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2019-03-25 14:30:01, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_003126               8017 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
            (SPTA1), mRNA.
ACCESSION   NM_003126
VERSION     NM_003126.2  GI:115298658
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8017)
  AUTHORS   van der Harst,P., Zhang,W., Mateo Leach,I., Rendon,A., Verweij,N.,
            Sehmi,J., Paul,D.S., Elling,U., Allayee,H., Li,X.,
            Radhakrishnan,A., Tan,S.T., Voss,K., Weichenberger,C.X.,
            Albers,C.A., Al-Hussani,A., Asselbergs,F.W., Ciullo,M., Danjou,F.,
            Dina,C., Esko,T., Evans,D.M., Franke,L., Gogele,M., Hartiala,J.,
            Hersch,M., Holm,H., Hottenga,J.J., Kanoni,S., Kleber,M.E.,
            Lagou,V., Langenberg,C., Lopez,L.M., Lyytikainen,L.P., Melander,O.,
            Murgia,F., Nolte,I.M., O'Reilly,P.F., Padmanabhan,S., Parsa,A.,
            Pirastu,N., Porcu,E., Portas,L., Prokopenko,I., Ried,J.S.,
            Shin,S.Y., Tang,C.S., Teumer,A., Traglia,M., Ulivi,S., Westra,H.J.,
            Yang,J., Zhao,J.H., Anni,F., Abdellaoui,A., Attwood,A., Balkau,B.,
            Bandinelli,S., Bastardot,F., Benyamin,B., Boehm,B.O., Cookson,W.O.,
            Das,D., de Bakker,P.I., de Boer,R.A., de Geus,E.J., de Moor,M.H.,
            Dimitriou,M., Domingues,F.S., Doring,A., Engstrom,G.,
            Eyjolfsson,G.I., Ferrucci,L., Fischer,K., Galanello,R.,
            Garner,S.F., Genser,B., Gibson,Q.D., Girotto,G., Gudbjartsson,D.F.,
            Harris,S.E., Hartikainen,A.L., Hastie,C.E., Hedblad,B., Illig,T.,
            Jolley,J., Kahonen,M., Kema,I.P., Kemp,J.P., Liang,L.,
            Lloyd-Jones,H., Loos,R.J., Meacham,S., Medland,S.E., Meisinger,C.,
            Memari,Y., Mihailov,E., Miller,K., Moffatt,M.F., Nauck,M.,
            Novatchkova,M., Nutile,T., Olafsson,I., Onundarson,P.T.,
            Parracciani,D., Penninx,B.W., Perseu,L., Piga,A., Pistis,G.,
            Pouta,A., Puc,U., Raitakari,O., Ring,S.M., Robino,A., Ruggiero,D.,
            Ruokonen,A., Saint-Pierre,A., Sala,C., Salumets,A., Sambrook,J.,
            Schepers,H., Schmidt,C.O., Sillje,H.H., Sladek,R., Smit,J.H.,
            Starr,J.M., Stephens,J., Sulem,P., Tanaka,T., Thorsteinsdottir,U.,
            Tragante,V., van Gilst,W.H., van Pelt,L.J., van Veldhuisen,D.J.,
            Volker,U., Whitfield,J.B., Willemsen,G., Winkelmann,B.R.,
            Wirnsberger,G., Algra,A., Cucca,F., d'Adamo,A.P., Danesh,J.,
            Deary,I.J., Dominiczak,A.F., Elliott,P., Fortina,P., Froguel,P.,
            Gasparini,P., Greinacher,A., Hazen,S.L., Jarvelin,M.R., Khaw,K.T.,
            Lehtimaki,T., Maerz,W., Martin,N.G., Metspalu,A., Mitchell,B.D.,
            Montgomery,G.W., Moore,C., Navis,G., Pirastu,M., Pramstaller,P.P.,
            Ramirez-Solis,R., Schadt,E., Scott,J., Shuldiner,A.R., Smith,G.D.,
            Smith,J.G., Snieder,H., Sorice,R., Spector,T.D., Stefansson,K.,
            Stumvoll,M., Tang,W.H., Toniolo,D., Tonjes,A., Visscher,P.M.,
            Vollenweider,P., Wareham,N.J., Wolffenbuttel,B.H., Boomsma,D.I.,
            Beckmann,J.S., Dedoussis,G.V., Deloukas,P., Ferreira,M.A.,
            Sanna,S., Uda,M., Hicks,A.A., Penninger,J.M., Gieger,C.,
            Kooner,J.S., Ouwehand,W.H., Soranzo,N. and Chambers,J.C.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   2  (bases 1 to 8017)
  AUTHORS   Shammas,S.L., Rogers,J.M., Hill,S.A. and Clarke,J.
  TITLE     Slow, reversible, coupled folding and binding of the spectrin
            tetramerization domain
  JOURNAL   Biophys. J. 103 (10), 2203-2214 (2012)
   PUBMED   23200054
  REMARK    GeneRIF: The unusually slow, two-state kinetics of spectrin
            assembly in solution, was investigated.
REFERENCE   3  (bases 1 to 8017)
  AUTHORS   Krobath,H., Estacio,S.G., Faisca,P.F. and Shakhnovich,E.I.
  TITLE     Identification of a conserved aggregation-prone intermediate state
            in the folding pathways of Spc-SH3 amyloidogenic variants
  JOURNAL   J. Mol. Biol. 422 (5), 705-722 (2012)
   PUBMED   22727745
  REMARK    GeneRIF: These data further suggest that residues 44 and 53, which
            are key players in the nucleation-condensation mechanism of
            folding, are also important triggers of the aggregation process.
REFERENCE   4  (bases 1 to 8017)
  AUTHORS   Ruetz,T.J., Lin,A.E. and Guttman,J.A.
  TITLE     Enterohaemorrhagic Escherichia coli requires the spectrin
            cytoskeleton for efficient attachment and pedestal formation on
            host cells
  JOURNAL   Microb. Pathog. 52 (3), 149-156 (2012)
   PUBMED   22197999
  REMARK    GeneRIF: Further studies involving siRNA-mediated knockdowns of
            spectrin, adducin, or p4.1 revealed that those proteins are needed
            for efficient docking of enterohaemorrhagic Escherichia coli to
            host cells.
REFERENCE   5  (bases 1 to 8017)
  AUTHORS   Wolny,M., Wroblewska,A.M., Machnicka,B. and Sikorski,A.F.
  TITLE     [Spectrin--variety of functions hidden in the structure]
  JOURNAL   Postepy Biochem. 58 (3), 245-254 (2012)
   PUBMED   23373410
  REMARK    GeneRIF: In this review, we summarize recent findings concerning
            structure and function of spectrin together with its possible role
            in pathology.
            Review article
REFERENCE   6  (bases 1 to 8017)
  AUTHORS   Kanzaki,A., Rabodonirina,M., Yawata,Y., Wilmotte,R., Wada,H.,
            Ata,K., Yamada,O., Akatsuka,J., Iyori,H., Horiguchi,M. et al.
  TITLE     A deletional frameshift mutation of the beta-spectrin gene
            associated with elliptocytosis in spectrin Tokyo (beta 220/216)
  JOURNAL   Blood 80 (8), 2115-2121 (1992)
   PUBMED   1391962
REFERENCE   7  (bases 1 to 8017)
  AUTHORS   Speicher,D.W., Weglarz,L. and DeSilva,T.M.
  TITLE     Properties of human red cell spectrin heterodimer (side-to-side)
            assembly and identification of an essential nucleation site
  JOURNAL   J. Biol. Chem. 267 (21), 14775-14782 (1992)
   PUBMED   1634521
REFERENCE   8  (bases 1 to 8017)
  AUTHORS   Hentati,A., Hu,P., Asgharzadeh,S. and Siddique,T.
  TITLE     Dinucleotide repeat polymorphism at the human erythroid alpha
            spectrin (SPTA1) locus
  JOURNAL   Hum. Mol. Genet. 1 (3), 218 (1992)
   PUBMED   1339473
REFERENCE   9  (bases 1 to 8017)
  AUTHORS   Gallagher,P.G., Tse,W.T., Coetzer,T., Lecomte,M.C., Garbarz,M.,
            Zarkowsky,H.S., Baruchel,A., Ballas,S.K., Dhermy,D., Palek,J. et
            al.
  TITLE     A common type of the spectrin alpha I 46-50a-kD peptide abnormality
            in hereditary elliptocytosis and pyropoikilocytosis is associated
            with a mutation distant from the proteolytic cleavage site.
            Evidence for the functional importance of the triple helical model
            of spectrin
  JOURNAL   J. Clin. Invest. 89 (3), 892-898 (1992)
   PUBMED   1541680
REFERENCE   10 (bases 1 to 8017)
  AUTHORS   Bennett,V. and Stenbuck,P.J.
  TITLE     The membrane attachment protein for spectrin is associated with
            band 3 in human erythrocyte membranes
  JOURNAL   Nature 280 (5722), 468-473 (1979)
   PUBMED   379653
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353894.14, M61877.1,
            CD616351.1 and BU665064.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 22, 2006 this sequence version replaced gi:4507188.
            
            Summary: Spectrin is an actin crosslinking and molecular scaffold
            protein that links the plasma membrane to the actin cytoskeleton,
            and functions in the determination of cell shape, arrangement of
            transmembrane proteins, and organization of organelles. It is a
            tetramer made up of alpha-beta dimers linked in a head-to-head
            arrangement. This gene is one member of a family of alpha-spectrin
            genes. The encoded protein is primarily composed of 22 spectrin
            repeats which are involved in dimer formation. It forms weaker
            tetramer interactions than non-erythrocytic alpha spectrin, which
            may increase the plasma membrane elasticity and deformability of
            red blood cells. Mutations in this gene result in a variety of
            hereditary red blood cell disorders, including elliptocytosis type
            2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided
            by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M61877.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025083 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL353894.14        103055-103072       c
            19-74               M61877.1           1-56
            75-159              M61877.1           58-142
            160-324             M61877.1           147-311
            325-325             AL353894.14        101602-101602       c
            326-507             M61877.1           313-494
            508-508             AL353894.14        99808-99808         c
            509-1113            M61877.1           496-1100
            1114-1141           AL353894.14        94061-94088         c
            1142-1875           M61877.1           1129-1862
            1876-1876           AL353894.14        86065-86065         c
            1877-3685           M61877.1           1864-3672
            3686-3686           AL353894.14        66294-66294         c
            3687-4426           M61877.1           3674-4413
            4427-4427           AL353894.14        60719-60719         c
            4428-4900           M61877.1           4415-4887
            4901-5257           CD616351.1         3-359               c
            5258-5871           M61877.1           5242-5855
            5872-5872           AL353894.14        43355-43355         c
            5873-7397           M61877.1           5857-7381
            7398-7555           BU665064.1         375-532
            7556-7769           AL353894.14        27310-27523         c
            7770-8017           M61877.1           7754-8001
FEATURES             Location/Qualifiers
     source          1..8017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21"
     gene            1..8017
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"
                     /db_xref="GeneID:6708"
                     /db_xref="HGNC:11272"
                     /db_xref="MIM:182860"
     exon            1..223
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    1
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="major transcription initiation site"
     misc_feature    47..49
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="upstream in-frame stop codon"
     variation       74
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201226811"
     variation       140
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200804863"
     CDS             200..7459
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="alpha-I spectrin; spectrin alpha chain,
                     erythrocyte; erythroid alpha-spectrin"
                     /codon_start=1
                     /product="spectrin alpha chain, erythrocytic 1"
                     /protein_id="NP_003117.2"
                     /db_xref="GI:115298659"
                     /db_xref="CCDS:CCDS41423.1"
                     /db_xref="GeneID:6708"
                     /db_xref="HGNC:11272"
                     /db_xref="MIM:182860"
                     /translation="
MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKRDADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKSRLMSELEKTREERFTMGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAIATSVELGEDWERTEVLHKKFEDFQVELVAKEGRVVEVNQYANECAEENHPDLPLIQSKQNEVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASEGLFHSHKGLERNLAVMSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALATSRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEIDSYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHLFYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAFTAQEEKIITVDKTATKLIGDDHYDSENIKAIRDGLLARRDALREKAATRRRLLKESLLLQKLYEDSDDLKNWINKKKKLADDEDYKDIQNLKSRVQKQQVFEKELAVNKTQLENIQKTGQEMIEGGHYASDNVTTRLSEVASLWEELLEATKQKGTQLHEANQQLQFENNAEDLQRWLEDVEWQVTSEDYGKGLAEVQNRLRKHGLLESAVAARQDQVDILTDLAAYFEEIGHPDSKDIRARQESLVCRFEALKEPLATRKKKLLDLLHLQLICRDTEDEEAWIQETEPSATSTYLGKDLIASKKLLNRHRVILENIASHEPRIQEITERGNKMVEEGHFAAEDVASRVKSLNQNMESLRARAARRQNDLEANVQFQQYLADLHEAETWIREKEPIVDNTNYGADEEAAGALLKKHEAFLLDLNSFGDSMKALRNQANACQQQQAAPVEGVAGEQRVMALYDFQARSPREVTMKKGDVLTLLSSINKDWWKVEAADHQGIVPAVYVRRLAHDEFPMLPQRRREEPGNITQRQEQIENQYRSLLDRAEERRRRLLQRYNEFLLAYEAGDMLEWIQEKKAENTGVELDDVWELQKKFDEFQKDLNTNEPRLRDINKVADDLLFEGLLTPEGAQIRQELNSRWGSLQRLADEQRQLLGSAHAVEVFHREADDTKEQIEKKCQALSAADPGSDLFSVQALQRRHEGFERDLVPLGDKVTILGETAERLSESHPDATEDLQRQKMELNEAWEDLQGRTKDRKESLNEAQKFYLFLSKARDLQNWISSIGGMVSSQELAEDLTGIEILLERHQEHRADMEAEAPTFQALEDFSAELIDSGHHASPEIEKKLQAVKLERDDLEKAWEKRKKILDQCLELQMFQGNCDQVESWMVARENSLRSDDKSSLDSLEALMKKRDDLDKAITAQEGKITDLEHFAESLIADEHYAKEEIATRLQRVLDRWKALKAQLIDERTKLGDYANLKQFYRDLEELEEWISEMLPTACDESYKDATNIQRKYLKHQTFAHEVDGRSEQVHGVINLGNSLIECSACDGNEEAMKEQLEQLKEHWDHLLERTNDKGKKLNEASRQQRFNTSIRDFEFWLSEAETLLAMKDQARDLASAGNLLKKHQLLEREMLAREDALKDLNTLAEDLLSSGTFNVDQIVKKKDNVNKRFLNVQELAAAHHEKLKEAYALFQFFQDLDDEESWIEEKLIRVSSQDYGRDLQGVQNLLKKHKRLEGELVAHEPAIQNVLDMAEKLKDKAAVGQEEIQLRLAQFVEHWEKLKELAKARGLKLEESLEYLQFMQNAEEEEAWINEKNALAVRGDCGDTLAATQSLLMKHEALENDFAVHETRVQNVCAQGEDILNKVLQEESQNKEISSKIEALNEKTPSLAKAIAAWKLQLEDDYAFQEFNWKADVVEAWIADKETSLKTNGNGADLGDFLTLLAKQDTLDASLQSFQQERLPEITDLKDKLISAQHNQSKAIEERYAALLKRWEQLLEASAVHRQKLLEKQLPLQKAEDLFVEFAHKASALNNWCEKMEENLSEPVHCVSLNEIRQLQKDHEDFLASLARAQADFKCLLELDQQIKALGVPSSPYTWLTVEVLERTWKHLSDIIEEREQELQKEEARQVKNFEMCQEFEQNASTFLQWILETRAYFLDGSLLKETGTLESQLEANKRKQKEIQAMKRQLTKIVDLGDNLEDALILDIKYSTIGLAQQWDQLYQLGLRMQHNLEQQIQAKDIKGVSEETLKEFSTIYKHFDENLTGRLTHKEFRSCLRGLNYYLPMVEEDEHEPKFEKFLDAVDPGRKGYVSLEDYTAFLIDKESENIKSSDEIENAFQALAEGKSYITKEDMKQALTPEQVSFCATHMQQYMDPRGRSHLSGYDYVGFTNSYFGN
"
     misc_feature    254..352
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 1"
     misc_feature    <260..595
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    353..370
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    356..667
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 2"
     misc_feature    671..985
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 3"
     misc_feature    674..1309
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    986..1003
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    989..1303
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 4"
     misc_feature    995..1627
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    1304..1321
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    1307..1621
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 5"
     misc_feature    1625..1939
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 6"
     misc_feature    1628..2260
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    1940..1957
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    1943..2254
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 7"
     misc_feature    1961..2554
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    2255..2272
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    2258..2572
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 8"
     misc_feature    2261..2890
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    2573..2590
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    2576..2890
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 9"
     misc_feature    2894..3103
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 10"
     misc_feature    2903..>3076
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats; Region: SPEC; smart00150"
                     /db_xref="CDD:197544"
     misc_feature    3143..3298
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Src Homology 3 domain superfamily; Region: SH3;
                     cl17036"
                     /db_xref="CDD:213143"
     misc_feature    order(3155..3157,3161..3163,3170..3172,3182..3184,
                     3236..3241,3278..3280,3284..3289)
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="peptide ligand binding site [polypeptide binding];
                     other site"
                     /db_xref="CDD:212690"
     misc_feature    3443..3742
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 11"
     misc_feature    3443..3736
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeat; Region: Spectrin; pfam00435"
                     /db_xref="CDD:201223"
     misc_feature    3746..4060
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 12"
     misc_feature    3755..4384
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    4061..4078
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    4064..4378
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 13"
     misc_feature    4382..4693
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 14"
     misc_feature    4385..5017
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    4694..4711
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    4697..5014
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 15"
     misc_feature    5018..5332
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 16"
     misc_feature    5021..5656
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    5327..5329
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="ubiquitination site; modified site"
     misc_feature    5333..5350
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    5336..5650
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 17"
     misc_feature    5342..5977
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    5651..5668
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    5654..5977
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 18"
     misc_feature    5981..6298
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 19"
     misc_feature    5981..6283
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeat; Region: Spectrin; pfam00435"
                     /db_xref="CDD:201223"
     misc_feature    6326..6640
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 20"
     misc_feature    6338..6979
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Spectrin repeats, found in several proteins
                     involved in cytoskeletal structure; family members include
                     spectrin, alpha-actinin and dystrophin; the spectrin
                     repeat forms a three helix bundle with the second helix
                     interrupted by proline in some sequences; Region: SPEC;
                     cd00176"
                     /db_xref="CDD:29138"
     misc_feature    6665..6682
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="linker region; other site"
                     /db_xref="CDD:29138"
     misc_feature    6668..6973
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P02549.5);
                     Region: Spectrin 21"
     misc_feature    7022..7228
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="EF-hand, calcium binding motif; A diverse
                     superfamily of calcium sensors and calcium signal
                     modulators; most examples in this alignment model have 2
                     active canonical EF hands. Ca2+ binding induces a
                     conformational change in the EF-hand motif, leading to...;
                     Region: EFh; cd00051"
                     /db_xref="CDD:28933"
     misc_feature    order(7049..7051,7055..7057,7061..7063,7082..7084,
                     7178..7180,7184..7186,7190..7192,7211..7213)
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Ca2+ binding site [ion binding]; other site"
                     /db_xref="CDD:28933"
     misc_feature    7247..7453
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /note="Ca2+ insensitive EF hand; Region: efhand_Ca_insen;
                     pfam08726"
                     /db_xref="CDD:149702"
     exon            224..463
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            464..589
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            590..730
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            731..877
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            878..1011
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       997
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36058424"
     exon            1012..1156
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            1157..1311
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       1277
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:34133563"
     exon            1312..1447
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            1448..1549
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            1550..1687
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            1688..1798
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       1732
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34446973"
     exon            1799..1876
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       1840
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35932551"
     exon            1877..2032
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       1930
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34211240"
     exon            2033..2237
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            2238..2419
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            2420..2663
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       2617
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35318623"
     exon            2664..2786
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       2671
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35856400"
     variation       2719
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:34577746"
     variation       2757
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:35121052"
     exon            2787..3004
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       2871
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36057043"
     exon            3005..3097
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       3011
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:36109350"
     variation       3069
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34706737"
     exon            3098..3235
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            3236..3387
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       3307
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34886778"
     variation       3370
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35078963"
     exon            3388..3574
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            3575..3676
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       3597
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:35733059"
     exon            3677..3768
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            3769..3913
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       3892
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34773716"
     exon            3914..4095
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            4096..4195
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       4188
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34214405"
     exon            4196..4393
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            4394..4537
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            4538..4641
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            4642..4804
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       4652
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34973695"
     variation       4676
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35237700"
     exon            4805..4936
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            4937..5074
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5075..5179
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5180..5388
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5389..5509
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     variation       5491
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3738791"
     exon            5510..5631
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5632..5764
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5765..5863
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            5864..6032
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6033..6109
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6110..6319
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6320..6616
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6617..6729
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6730..6747
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6748..6799
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6800..6987
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            6988..7041
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            7042..7188
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            7189..7333
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     exon            7334..8017
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /inference="alignment:Splign:1.39.8"
     STS             7452..7663
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /standard_name="GDB:196442"
                     /db_xref="UniSTS:155850"
     STS             7524..7654
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /standard_name="GDB:191077"
                     /db_xref="UniSTS:155640"
     STS             7530..7716
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /standard_name="D1S3249"
                     /db_xref="UniSTS:46677"
     STS             7535..7651
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /standard_name="G15944"
                     /db_xref="UniSTS:75377"
     variation       7589..7590
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace=""
                     /replace="gt"
                     /db_xref="dbSNP:68118007"
     variation       7626
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3768535"
     variation       7754
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12601"
     polyA_signal    7993..7998
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
     polyA_site      8017
                     /gene="SPTA1"
                     /gene_synonym="EL2; HPP; HS3; SPH3; SPTA"
ORIGIN      
tatgtcttctaaagataatgtcgattgtgtatggctgatgggattctaggaccaagcaagaggtttttttttttcccccacatacttaacgtttctatatttctatttgaattcgactggacagttccatttgaattatttctctctctctctctctctgacacattttatcttgccaggttctaaacctttaggaaaaatggagcaatttccaaaggaaaccgttgtggagagcagtgggccaaaggttttggaaacagcagaagagatccaggagaggcgtcaggaagtgttgactcggtatcaaagtttcaaggagcgggtcgctgagaggggtcagaagcttgaggattcctatcacttacaagttttcaagcgagatgcagatgatctggggaagtggatcatggagaaagtcaatatcttaaccgataagagctatgaagacccaactaatatacaggggaaatatcagaagcatcaatcccttgaagcagaggtgcaaacaaaatcaagactcatgtctgaactggaaaaaacaagggaagaacgatttaccatgggtcattctgcccacgaagaaacgaaggcccatatagaggagctacgccacctgtgggacctgctgttagagctgaccctggagaagggtgaccagttgctgcgggccctgaagttccagcagtatgtacaggagtgtgctgacatcttagagtggattggagacaaggaggctatagcgacatcagtggagctaggtgaagactgggagcgcaccgaagttctgcataagaaatttgaagacttccaagtggagctggtagctaaagaagggagagttgttgaagtgaaccaatatgccaatgagtgtgccgaggaaaaccatcctgacctacccttaattcagtctaagcaaaatgaggtgaatgctgcctgggagcgccttcgtggtttggctctccagagacagaaagctctgtccaatgctgcaaacttacaacgattcaaaagggatgtgactgaagccatccagtggatcaaggagaaggaacctgtactcacctctgaggactatggcaaagaccttgttgcctctgaaggactgtttcacagtcacaagggacttgagagaaatcttgctgtcatgagtgacaaggtgaaggagttatgtgctaaagcagagaagctgacactttcccatccttcagatgcacctcagatccaggagatgaaagaagatctggtctccagctgggagcatattcgtgccctggccaccagcagatatgaaaaactgcaggctacttattggtaccatcgattttcatctgactttgatgaactctcaggctggatgaacgagaagactgctgcgatcaatgctgatgagctgccaacagatgtggctggtggagaagttctgctggacaggcatcagcagcataagcatgagattgactcttacgatgaccgatttcaatctgctgatgagactggtcaagacctcgtgaatgccaatcatgaagcctctgatgaagttcgggaaaagatggaaatacttgacaacaactggactgccctgctggaactgtgggacgagcgtcatcgtcagtatgagcagtgcttggactttcatctcttctacagagacagtgagcaagtggacagttggatgagtagacaagaggccttcctggaaaacgaggatctgggaaactcactgggcagtgcagaagcccttcttcagaagcatgaagactttgaggaagcctttactgcccaggaagagaagatcataactgtagacaagactgcaaccaaattgattggtgatgaccattatgattcagagaacatcaaggctatccgtgacgggctgttagcccggcgggatgccctacgtgaaaaggctgccactagacgtagattgctgaaggagtcattgcttctgcaaaaactgtatgaggactcagatgacctaaagaactggatcaacaagaagaaaaagttggcagatgatgaagattacaaggacatacagaacttgaagagcagggttcaaaagcagcaagtctttgaaaaggagttggcagttaataagacccagctggaaaacatacagaaaactggccaagagatgattgagggtggtcactatgcctctgacaatgtgaccactcgtctgagtgaagttgccagcctctgggaggagttgctggaggctacaaaacagaaagggacccagttgcatgaggccaaccagcagctgcaatttgaaaataatgcagaagatttgcagcgctggctggaggatgttgagtggcaagtcacctctgaggattatgggaaaggcctggccgaggtacagaatcgactcaggaaacacggcctcctggagtcggctgtggctgctcgtcaggatcaggtggatatccttacagacctggctgcatattttgaagaaataggccatcctgattctaaggatataagggcaaggcaagagtccttggtatgccgatttgaagctctgaaagagccactggccacccgaaagaagaagctcttagaccttctccatctgcagctgatttgtagagacacagaggatgaggaggcctggatccaagagactgaaccctcagctacttccacctaccttggaaaggacctgattgcttccaaaaagcttctgaataggcatagagtcatcctggagaacattgccagccatgaaccacgcattcaagagataacagaaaggggaaacaaaatggtagaggaaggacactttgctgcagaagatgtggcctctagggtcaagagtttgaaccagaatatggagtctctccgtgctcgagctgctaggcgacaaaatgatcttgaagccaatgtccagttccagcagtacctggctgacctgcatgaagcagaaacatggatcagagagaaggaacctattgtagataatactaactatggtgctgatgaagaagcagctggggctcttctaaagaagcatgaggcctttctattagatctcaattcatttggagacagtatgaaagctctgcggaatcaggcaaacgcctgccagcaacaacaggctgcaccagtggagggagttgctggagaacaaagggtcatggctttatatgacttccaggcccgcagcccccgagaagtcaccatgaagaaaggtgatgtcttaacgctgctcagttccatcaataaggactggtggaaggtggaagctgctgatcatcagggcattgtcccagctgtctatgtcagaagactggcccacgatgagttcccgatgctcccacagcggcgacgagaagagccaggaaacatcacccagcgccaggagcagattgagaaccaataccgctccctcttggatcgggcagaagaacgcagacgtcgtctattgcaacgttataatgaatttttattggcctatgaggcaggagacatgctggaatggattcaagagaaaaaggcagaaaacactggagtggaactagatgatgtttgggagctgcagaaaaagtttgatgagttccaaaaggatttgaataccaatgagcctcggctaagggatatcaacaaggtagctgatgatctactatttgaaggacttctaacaccagaaggagctcaaatccggcaggaattgaattcccgctggggttctttgcagaggcttgcagatgaacagcggcagctgctgggcagtgcccatgctgttgaagtgtttcacagagaagcagatgacacgaaggagcagattgagaagaaatgccaggccctcagtgctgcagaccctggctcagatctgttcagtgttcaggctcttcagcgacggcatgagggctttgaaagggacctcgtacccctgggagataaggtgaccatactgggggagacagcagagcggctcagtgagtcccatccagatgccactgaggacctgcagagacagaaaatggagctgaatgaggcctgggaagacctgcaggggcgtacaaaggatcgtaaggagagcctaaatgaggcccagaaattctacctgttcctcagcaaggccagggatctgcagaactggatcagtagcattggtggcatggtatcatcacaggagctggccgaagacttaactggcatagagatcttgctggagagacatcaggagcaccgtgctgacatggaggcagaggctcccaccttccaggccttagaggacttcagtgcagaacttatcgacagtgggcaccatgctagccctgaaattgaaaaaaagcttcaagctgtcaagctagagagagatgatttggagaaggcttgggaaaaacgcaagaagatcctagaccagtgcctggagttgcagatgttccaggggaactgtgatcaagttgagagctggatggtggcacgtgagaattccctgaggtcagatgacaaaagttccttagacagtctggaggctttgatgaagaaacgggacgatttggacaaagcaatcactgcccaggaagggaagatcactgacctagaacattttgctgagagcctcattgctgatgaacactatgccaaagaagagattgctacgcggctccaacgtgtactagacaggtggaaggctctcaaagcacaactgattgatgagcggacaaagcttggagactatgccaacctaaaacaattctaccgagaccttgaggagctggaagaatggatcagtgagatgctgcccacagcctgtgatgaatcctacaaagacgccactaacattcagaggaaatacctgaaacaccagacctttgcacatgaagtcgatggccgatctgagcaggtgcatggcgtcatcaacctggggaactccctgattgagtgtagcgcttgtgatggcaatgaagaggccatgaaggagcaactggaacagctgaaggaacattgggatcatctgcttgagagaacaaatgacaaagggaagaagctcaatgaggccagtcgtcaacagaggttcaacacaagcatccgggactttgagttctggctctcagaggcagagacattgctggccatgaaagatcaggccagggacttggcttcagcaggaaacctactcaagaagcatcagctattggagagagagatgttggctcgagaggatgcactcaaggacctgaatacattggctgaagatttgctctccagcgggactttcaacgttgatcagattgtgaagaaaaaagataatgtcaacaagcgtttcctgaatgtccaagaattggcagctgcacaccacgaaaaattgaaagaggcctatgccttgttccagttcttccaggatctagatgatgaggaatcctggatagaggagaagttgatacgagtgagctcccaggactatgggagagatcttcagggggttcagaacttgctgaagaagcacaaacgcctagagggggagctggtggcccatgagcctgccatccagaatgtgctggatatggcagagaagctgaaagacaaggctgctgtggggcaagaggagatccagttgcggctggctcagtttgttgaacactgggagaagctcaaagagttggccaaggcccgaggacttaagttggaagaatccctagaatacttgcaattcatgcagaatgctgaggaagaggaagcttggatcaatgaaaagaatgctttggctgtccgaggagattgtggagatacattagctgctactcagagcttgctaatgaagcatgaagctttggaaaatgactttgctgtccatgagacccgagtacaaaatgtgtgtgcacaaggagaagacatcctaaataaggtgttgcaggaggaaagtcagaacaaagagatttcttccaagatagaggctctgaatgaaaagaccccttctctggctaaggcaatagctgcttggaagttgcaattggaagacgattatgcctttcaggaattcaactggaaggctgatgtggtagaggcttggatagctgataaggaaacaagcctaaagaccaatggcaatggtgcagaccttggtgacttcctcactcttctggcaaaacaggacactctggatgccagtctgcagagtttccagcaagagagacttcccgagatcactgacctgaaggacaaactgatttctgctcaacacaaccagtctaaagccattgaagagcgttatgccgctctgctgaagcgctgggaacagttgctggaagcctcggcagtccacagacagaaattgctggagaaacagctgcctctacagaaggctgaggacctgttcgtggaatttgcacataaggcttcagctttgaacaactggtgtgaaaagatggaagaaaacttgtcagagcctgtgcactgtgtctccctgaatgaaattcggcagctgcagaaagaccatgaggacttcttggcctccctggctagggctcaagcagactttaaatgtttgctggagctagaccagcagattaaggccttaggtgtgccttccagcccttatacctggttaacagtggaggtgctggaaaggacctggaagcacctatctgacatcattgaggaacgggagcaggagctgcaaaaggaagaggcaagacaggtcaagaactttgagatgtgtcaggagtttgaacagaatgccagtaccttccttcaatggatcctggaaaccagggcttactttctggatggatcattgctcaaagaaacaggaactctggaatctcagctggaagcaaataaaagaaaacagaaggagatccaggcgatgaagcgtcaactaaccaagattgtggacctgggggacaacttggaagacgctctgatccttgatatcaaatacagcaccattggattggctcagcagtgggaccagctctaccagcttgggttgcggatgcaacacaacctggagcaacagatccaggccaaggacatcaaaggtgtgagtgaagagactctaaaggaatttagcacaatctataaacactttgatgagaatttgacagggcgcctgactcacaaagagttccggtcctgcctgagaggactcaattactacttgcccatggtggaggaggatgaacatgagcccaagtttgagaagttcctggatgctgtggatccagggaggaagggctatgtctcactggaggactatactgctttcctgattgacaaggagtcagaaaacatcaagtccagtgatgaaatagagaatgccttccaagccctggcagagggcaagtcatatattaccaaagaagacatgaagcaggcccttaccccagagcaagtgtcattctgtgccacacatatgcagcaatatatggacccacggggtcgaagccatctctctggctatgactacgttggcttcaccaattcctactttggcaactaataagcagctcctcgtggatcgtagaaaatcttagtgtcgtgggaaatttactggggggcaaagagtacaggcaaatgtggaagataaagatggcctcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgcttgtgtttgtgtgcatattacatttattgtaggatcttaaaaaatctcaagggtgggagatagaaaggttaatagagttggaggagtggaagctattttgtatgcaactagtcactgctgaggggtgtcaaagtttctatttttatttgttctgttttgcacgtctttatcattttgctttattccgattatagaataaagtaattctttttaaaaatattttttggggcaaagttaagtaaaatgttgagcttctatatttctgggaactgtactcatataagagtgggcagctaattttactgtaaagaagggccatggtatagtagataaataaaatccaaggcaattttcaaacaatttttttaaactttggaatgtgtttaaatttaaatttgaaaataaagatatttgattttctgggg
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:6708 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
            GeneID:6708 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
            GeneID:6708 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:6708 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
            GeneID:6708 -> Molecular function: GO:0051015 [actin filament binding] evidence: TAS
            GeneID:6708 -> Biological process: GO:0002260 [lymphocyte homeostasis] evidence: IEA
            GeneID:6708 -> Biological process: GO:0006779 [porphyrin-containing compound biosynthetic process] evidence: IEA
            GeneID:6708 -> Biological process: GO:0007009 [plasma membrane organization] evidence: IEA
            GeneID:6708 -> Biological process: GO:0007015 [actin filament organization] evidence: TAS
            GeneID:6708 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
            GeneID:6708 -> Biological process: GO:0008360 [regulation of cell shape] evidence: IEA
            GeneID:6708 -> Biological process: GO:0030097 [hemopoiesis] evidence: IEA
            GeneID:6708 -> Biological process: GO:0032092 [positive regulation of protein binding] evidence: IEA
            GeneID:6708 -> Biological process: GO:0042102 [positive regulation of T cell proliferation] evidence: IEA
            GeneID:6708 -> Biological process: GO:0051693 [actin filament capping] evidence: IEA
            GeneID:6708 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:6708 -> Cellular component: GO:0008091 [spectrin] evidence: IEA
            GeneID:6708 -> Cellular component: GO:0014731 [spectrin-associated cytoskeleton] evidence: IDA
            GeneID:6708 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: TAS
            GeneID:6708 -> Cellular component: GO:0031235 [intrinsic to internal side of plasma membrane] evidence: TAS
            GeneID:6708 -> Cellular component: GO:0032437 [cuticular plate] evidence: IEA

by @meso_cacase at DBCLS
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