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2019-03-23 03:49:20, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001145158            7037 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant
            2, mRNA.
ACCESSION   NM_001145158
VERSION     NM_001145158.1  GI:223555962
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 7037)
  AUTHORS   Li,J., Glessner,J.T., Zhang,H., Hou,C., Wei,Z., Bradfield,J.P.,
            Mentch,F.D., Guo,Y., Kim,C., Xia,Q., Chiavacci,R.M., Thomas,K.A.,
            Qiu,H., Grant,S.F., Furth,S.L., Hakonarson,H. and Sleiman,P.M.
  TITLE     GWAS of blood cell traits identifies novel associated loci and
            epistatic interactions in Caucasian and African-American children
  JOURNAL   Hum. Mol. Genet. 22 (7), 1457-1464 (2013)
   PUBMED   23263863
REFERENCE   2  (bases 1 to 7037)
  AUTHORS   Menzel,S., Garner,C., Rooks,H., Spector,T.D. and Thein,S.L.
  TITLE     HbA2 levels in normal adults are influenced by two distinct genetic
            mechanisms
  JOURNAL   Br. J. Haematol. 160 (1), 101-105 (2013)
   PUBMED   23043469
REFERENCE   3  (bases 1 to 7037)
  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   4  (bases 1 to 7037)
  AUTHORS   Bae,H.T., Baldwin,C.T., Sebastiani,P., Telen,M.J., Ashley-Koch,A.,
            Garrett,M., Hooper,W.C., Bean,C.J., Debaun,M.R., Arking,D.E.,
            Bhatnagar,P., Casella,J.F., Keefer,J.R., Barron-Casella,E.,
            Gordeuk,V., Kato,G.J., Minniti,C., Taylor,J., Campbell,A.,
            Luchtman-Jones,L., Hoppe,C., Gladwin,M.T., Zhang,Y. and
            Steinberg,M.H.
  TITLE     Meta-analysis of 2040 sickle cell anemia patients: BCL11A and
            HBS1L-MYB are the major modifiers of HbF in African Americans
  JOURNAL   Blood 120 (9), 1961-1962 (2012)
   PUBMED   22936743
  REMARK    GeneRIF: Studies indicate that single nucleotide polymorphisms
            (SNPs) in regions of BCL11A and HBS1L-MYB intergenic polymorphism
            are the major modifiers of HbF in African Americans.
REFERENCE   5  (bases 1 to 7037)
  AUTHORS   Qayyum,R., Snively,B.M., Ziv,E., Nalls,M.A., Liu,Y., Tang,W.,
            Yanek,L.R., Lange,L., Evans,M.K., Ganesh,S., Austin,M.A.,
            Lettre,G., Becker,D.M., Zonderman,A.B., Singleton,A.B.,
            Harris,T.B., Mohler,E.R., Logsdon,B.A., Kooperberg,C., Folsom,A.R.,
            Wilson,J.G., Becker,L.C. and Reiner,A.P.
  TITLE     A meta-analysis and genome-wide association study of platelet count
            and mean platelet volume in african americans
  JOURNAL   PLoS Genet. 8 (3), E1002491 (2012)
   PUBMED   22423221
REFERENCE   6  (bases 1 to 7037)
  AUTHORS   Lettre,G., Sankaran,V.G., Bezerra,M.A., Araujo,A.S., Uda,M.,
            Sanna,S., Cao,A., Schlessinger,D., Costa,F.F., Hirschhorn,J.N. and
            Orkin,S.H.
  TITLE     DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci
            associate with fetal hemoglobin levels and pain crises in sickle
            cell disease
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 105 (33), 11869-11874 (2008)
   PUBMED   18667698
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 7037)
  AUTHORS   Menzel,S., Jiang,J., Silver,N., Gallagher,J., Cunningham,J.,
            Surdulescu,G., Lathrop,M., Farrall,M., Spector,T.D. and Thein,S.L.
  TITLE     The HBS1L-MYB intergenic region on chromosome 6q23.3 influences
            erythrocyte, platelet, and monocyte counts in humans
  JOURNAL   Blood 110 (10), 3624-3626 (2007)
   PUBMED   17712044
  REMARK    GeneRIF: The HBS1L-MYB intergenic region on chromosome 6q23.3
            influences erythrocyte, platelet, and monocyte counts.
REFERENCE   8  (bases 1 to 7037)
  AUTHORS   Thein,S.L., Menzel,S., Peng,X., Best,S., Jiang,J., Close,J.,
            Silver,N., Gerovasilli,A., Ping,C., Yamaguchi,M., Wahlberg,K.,
            Ulug,P., Spector,T.D., Garner,C., Matsuda,F., Farrall,M. and
            Lathrop,M.
  TITLE     Intergenic variants of HBS1L-MYB are responsible for a major
            quantitative trait locus on chromosome 6q23 influencing fetal
            hemoglobin levels in adults
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 104 (27), 11346-11351 (2007)
   PUBMED   17592125
  REMARK    GeneRIF: HBS1L-related genetic variants play a key role in control
            of fetal hemoglobin levels.
REFERENCE   9  (bases 1 to 7037)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 7037)
  AUTHORS   Wallrapp,C., Verrier,S.B., Zhouravleva,G., Philippe,H.,
            Philippe,M., Gress,T.M. and Jean-Jean,O.
  TITLE     The product of the mammalian orthologue of the Saccharomyces
            cerevisiae HBS1 gene is phylogenetically related to eukaryotic
            release factor 3 (eRF3) but does not carry eRF3-like activity
  JOURNAL   FEBS Lett. 440 (3), 387-392 (1998)
   PUBMED   9872408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB051030.1, AK295545.1,
            BC040849.1, AB028961.1, AL445190.9 and AJ459826.1.
            
            Summary: This gene encodes a member of the GTP-binding elongation
            factor family. It is expressed in multiple tissues with the highest
            expression in heart and skeletal muscle. The intergenic region of
            this gene and the MYB gene has been identified to be a quantitative
            trait locus (QTL) controlling fetal hemoglobin level, and this
            region influnces erythrocyte, platelet, and monocyte counts as well
            as erythrocyte volume and hemoglobin content. DNA polymorphisms at
            this region associate with fetal hemoglobin levels and pain crises
            in sickle cell disease. A single nucleotide polymorphism in exon 1
            of this gene is significantly associated with severity in
            beta-thalassemia/Hemoglobin E. Multiple alternatively spliced
            transcript variants encoding different protein isoforms have been
            found for this gene. [provided by RefSeq, May 2009].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            coding region, compared to variant 1. This results in a shorter
            protein (isoform 2) compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK295545.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                DB051030.1         1-79
            80-2591             AK295545.1         1-2512
            2592-2786           BC040849.1         2622-2816
            2787-6305           AB028961.1         2144-5662
            6306-6758           AL445190.9         21349-21801         c
            6759-7037           AJ459826.1         6874-7152
FEATURES             Location/Qualifiers
     source          1..7037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..7037
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="HBS1-like (S. cerevisiae)"
                     /db_xref="GeneID:10767"
                     /db_xref="HGNC:4834"
                     /db_xref="MIM:612450"
     exon            1..250
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    175..177
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="upstream in-frame stop codon"
     variation       177
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:112374595"
     variation       188
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113123443"
     CDS             208..2136
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="isoform 2 is encoded by transcript variant 2; Hsp70
                     subfamily B suppressor 1-like protein; HBS1-like protein;
                     ERF3-similar protein"
                     /codon_start=1
                     /product="HBS1-like protein isoform 2"
                     /protein_id="NP_001138630.1"
                     /db_xref="GI:223555963"
                     /db_xref="CCDS:CCDS47479.1"
                     /db_xref="GeneID:10767"
                     /db_xref="HGNC:4834"
                     /db_xref="MIM:612450"
                     /translation="
MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPVDSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELEKRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMITGAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELTKWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCIFCGPKVPIKACTRFRARILIFNIEIPITKGFPVLLHYQTVSEPAVIKRLISVLNKSTGEVTKKKPKFLTKGQNALVELQTQRPIALELYKDFKELGRFMLRYGGSTIAAGVVTEIKE
"
     misc_feature    208..495
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="Domain of unknown function (DUF1916); Region:
                     DUF1916; pfam08938"
                     /db_xref="CDD:149872"
     misc_feature    847..2133
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="Translation elongation factor EF-1alpha (GTPase)
                     [Translation, ribosomal structure and biogenesis]; Region:
                     TEF1; COG5256"
                     /db_xref="CDD:34853"
     misc_feature    865..1524
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="Elongation Factor 1-alpha (EF1-alpha) protein
                     family; Region: EF1_alpha; cd01883"
                     /db_xref="CDD:206670"
     misc_feature    880..903
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="G1 box; other site"
                     /db_xref="CDD:206670"
     misc_feature    order(883..885,889..891,901..906,913..915,922..927,
                     1066..1071,1123..1128,1195..1200,1339..1341,1351..1353)
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="putative GEF interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:206670"
     misc_feature    order(889..891,895..906,1297..1302,1306..1308,1414..1422)
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="GTP/Mg2+ binding site [chemical binding]; other
                     site"
                     /db_xref="CDD:206670"
     misc_feature    order(901..903,1030..1032,1039..1044,1048..1050,
                     1054..1056,1060..1068,1072..1074,1105..1107,1111..1113,
                     1117..1125,1129..1131,1138..1140)
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="EF1Balpha binding site [polypeptide binding]; other
                     site"
                     /db_xref="CDD:206670"
     misc_feature    1036..1068
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="Switch I region; other site"
                     /db_xref="CDD:206670"
     misc_feature    1054..1056
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="G2 box; other site"
                     /db_xref="CDD:206670"
     misc_feature    1111..1122
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="G3 box; other site"
                     /db_xref="CDD:206670"
     misc_feature    1117..1173
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="Switch II region; other site"
                     /db_xref="CDD:206670"
     misc_feature    1297..1308
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="G4 box; other site"
                     /db_xref="CDD:206670"
     misc_feature    1414..1422
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="G5 box; other site"
                     /db_xref="CDD:206670"
     misc_feature    1540..1788
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="eRF3_II_like: domain similar to domain II of the
                     eukaryotic class II release factor (eRF3). In eukaryotes,
                     translation termination is mediated by two interacting
                     release factors, eRF1 and eRF3, which act as class I and
                     II factors, respectively. eRF1...; Region: eRF3_II_like;
                     cd03698"
                     /db_xref="CDD:58089"
     misc_feature    1807..2127
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /note="HBS1_C: this family represents the C-terminal
                     domain of Hsp70 subfamily B suppressor 1 (HBS1) which is
                     homologous to the domain III of EF-1alpha. This group
                     contains proteins similar to yeast Hbs1, a G protein known
                     to be important for efficient growth...; Region: HBS1_C;
                     cd04093"
                     /db_xref="CDD:58075"
     variation       246
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:112424574"
     exon            251..316
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       309
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:35916433"
     exon            317..511
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     STS             331..459
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /standard_name="PMC140821P3"
                     /db_xref="UniSTS:270977"
     variation       487
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113745241"
     exon            512..620
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       520
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111758776"
     variation       531
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:35697718"
     variation       619
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34860737"
     exon            621..880
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            881..1046
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1047..1164
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1165..1311
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       1262
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111422826"
     exon            1312..1386
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     STS             1337..1429
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /standard_name="HBS1L"
                     /db_xref="UniSTS:504542"
     exon            1387..1504
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1505..1573
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1574..1678
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1679..1769
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1770..1878
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     exon            1879..1979
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       1912
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:36025561"
     exon            1980..2124
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       1986
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113089804"
     STS             1993..2124
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /standard_name="PMC140821P2"
                     /db_xref="UniSTS:270976"
     variation       2034
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1139174"
     variation       2096
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113801496"
     exon            2125..7037
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /inference="alignment:Splign:1.39.8"
     variation       2236
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112748112"
     variation       2372
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113902835"
     STS             2547..2730
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /standard_name="RH46724"
                     /db_xref="UniSTS:73570"
     STS             2582..2782
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /standard_name="HSC20G062"
                     /db_xref="UniSTS:19610"
     polyA_signal    2759..2764
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
     variation       2773
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:111504247"
     polyA_site      2790
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
     variation       2892
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112465963"
     variation       3347
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112290620"
     variation       3633
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111768274"
     variation       4081
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112529964"
     variation       4226
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112911622"
     variation       4467
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:111639058"
     variation       4539
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112518126"
     variation       5679
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112112993"
     variation       5747
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112795442"
     variation       6416
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111288345"
     variation       6561
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112150644"
     variation       6620
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111520283"
     variation       6758
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1135205"
     variation       6841
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113666687"
     variation       6879
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1135206"
     variation       6906
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113255530"
     variation       6948..6949
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:112383774"
     polyA_site      7037
                     /gene="HBS1L"
                     /gene_synonym="EF-1a; ERFS; HBS1; HSPC276"
ORIGIN      
agggaggcggacagtgaccctgaggcattgccgtcgcgcggtgcacagctaagacgtcgcgcttgcgcaggcgctcggcgcagaggcctgcgggaagccaagatggcgcataggggttctccaggctgcagttggcgccttatcagtatctaagcggagtgttttggaaggagttaaggggctgtggcaaacgccctctccgccgtcatggcccggcatcggaatgttcgaggctataactacgatgaagattttgaagatgatgatctctacggccagtctgtagaggatgattattgtatttcgccgtcaacagctcgtctttattcatgccttgatcacatgagagaggtacttggagatgctgtgccagatgaaatattaattgaagcagttctgaagaacaagtttgatgtgcagaaggctttgtcaggggttctggaacaagatagagtgcagagtttgaaggacaagaatgaggcaacagtatctacaggaaagatagcaaaaggaaaaccagtagattcccagacatcgcgaagtgaatctgaaattgtgccaaaagttgctaaaatgactgtatctggaaagaagcaaactatgggatttgaagtgcctggagtatcttctgaagaaaatggtcatagtttccacacacctcaaaaaggaccgcccattgaagatgccattgcttcttccgatgttcttgagactgcttctaaatctgctaatccaccccacacgattcaagcatcagaagagcagagttcaaccccagcaccggtgaaaaagtctggcaagctgaggcagcaaatagatgtgaaggcggaactggagaagcggcaaggagggaagcagctactcaacttagtggtcattggtcatgttgatgctgggaaaagtactctgatgggccatatgctttatcttctgggtaatataaacaaaagaactatgcataagtatgaacaggagtctaaaaaggctggcaaagcttcgtttgcatatgcatgggtcttggatgaaactggcgaagaaagggaaaggggagtaaccatggatgttggtatgacaaagtttgaaaccacaaccaaagttattacattaatggatgctccaggccataaggacttcattccaaatatgattacaggagcagcccaggcggatgtagctgttttagttgtagatgccagcaggggagagtttgaagctggatttgagactggaggacaaacacgagagcatggactcttggtccgttctctgggagtgacgcagcttgcagttgcagttaataaaatggatcaggttaattggcaacaagaaaggtttcaagagattactggaaaacttgggcactttcttaagcaagcaggttttaaggagagtgatgtaggttttattcctacaagtggtctcagtggtgaaaatctaatcacaagatctcagtcaagtgaactcacaaaatggtataaaggactatgtttattagaacaaattgattcctttaagcctccccagcgatctattgacaaaccttttagattatgtgtgtccgatgttttcaaagatcaaggatctggattttgcataactggtaaaatagaagctggttatatccaaactggtgaccgactactggcaatgcctcctaatgaaacttgtaccgtgaaaggaatcactctgcatgatgaacctgtcgactgggcggcagcaggcgatcatgttagtcttactttggttgggatggatatcatcaaaatcaatgttggctgcatattttgtggccccaaagtacccattaaagcttgcactcgtttcagagcccgaatcctcatctttaatattgaaattcctatcactaaaggatttcctgtgctgttacactaccaaactgtcagtgaacccgccgttattaaacgattgattagtgtcttaaacaaaagcacgggtgaagtcacaaagaaaaagcctaagtttttgactaaaggccagaatgcattggtagagctacagacacaaagaccaatagctcttgagctatataaagactttaaagagctggggaggttcatgctacgttacggtggttctacaatagctgctggtgttgtcactgagataaaagaatgatgggtcagaatttctaccacgtttctggatacagtgaaatagctaacctctgtttcaagaatgcagttattaagtcaaaggaacaatgtgcaattgatatgtttttagatgagagagaaaaattaaagctaaaattagctgcaaagaagtattaataatcacctctgcaaaaattctaagttgccaactggcaaagaaagtctaatgttaaaaacaactttgcctttgaaacgttaataaatggatttactttgctaagatttatggcaagtgtcaaaaatagtatctgaagatactgaatcatcatgaaatgaactctacttctggccaaagcacaatgtatttgcagttttctcttttgattcaattatactgcacatgttttaaggaaaagtaacttaattgggtttttcaggcagttgatatttgacctaagctttttttttttttttttttccagttaatgctaagaaaagatttggggaaggttataataaaagtattttgtggtgaccataagaatgtccctccccaaacaagtaaacttgtgaaagtttaatttggaattagtggaagctgttcctttgaaagccaagatattatttaagttgtaaagccagctaataaaatgccttagtttgagcataatacaaactgtgttttgttctttagacatttatgagattctctgccactaacagtaaatatgatttaggggttttgtgggatctttttcacctaagagtttcctagctctgtcacatgaattcttttttatcctaatggcagatccaatttcatctcattcatttttttaaccataacttgcttttcccattctcacttttagaattatacctatgatggccctttctttatcttgcttaccttatagattataagtcccctgtgagtaagtaagagtcatgtttttctttaaagtttcaacaacaaaccccaaggtttatttatttaacaacaggtattcgttgaggtgccttctgggtgcaaggagctttagagtagattttgacctcagctgaacctggaactctgatctgatagactgtttatgataagcttttttttttattagcagcgtgatttgtatatcgatggcttaacatatacaacagcatttcttctccctgcaccttttcgtgaacctgacattttgaacataagcaataacatctgtatggtaaagtaggcagattatacatgtgttgcttagtgaatgattaccaagtgaacacacttggtatattgctttaccaaaatacatgtgtagttgtcacttcagattcactgagttaagaaagttttatttaaatattaatattaatcaagaatttaacagatatatgtgacagaaatctaacttcaagtgactgaagcagaaagaaaaatttttgaatgacataactgagaaaattagaggtagctctagctttgattccatttagatcgagcagctcacacaatgttagcaaggactcatctccactctgccttccctggtgctggttttgctctcaaactctatatagaactctcggccgggcgcggtggctcacacctgtaatcaaaacactttgggaggctgagtcgggaggatagcgtgagcccaggagtttgagaccagctaaggcaatatagtgagaccatgtctctacagaaaaaatttaaaaacagatcagctgggtgtggtgccacatgcctgtagtcccagcttctcaggaggctggggtgggaagatcacttgagcccaggaggtcgaggctgcagtgagccatgatcacatcactgcagtccagcctgggtgacagagcaagacctgtcaccctgccacccataaaaaacctcttctgtaatgccaggttcttgacaagatgtgataattccacacttacatcctcagatctcccatccagggcaaggacagactaaaagagcatatcttctccagaagtcctagaaacatctcatcattgactatgattgaattttatttattaatacttccctaggatatcctgtgtttgagtgtgaagttaatatcacacaaagcatgtagctaacagttgtgtgagggttggaaattcagggtgctgttaggaaggggaaatggattggggtttaaggtagggggagtaaaaacaagaaaccatccactctgtatattatataagactgtgatcgaattaagaattttagtttacagtttagcataaacaaatagtagtagaaatgaatgcatttattcattccttccttctccaatagtgtttaagtacaatctttttatttgcattttattgatgattgattgtggttgaaaggagtggtgatattatttcgaggatccactgtgtaagaagactgttggcagtggaaggctcgagttgattaagtgacaaagaggtaaagcagacatgcccaagcttggttatgctctgatttcctaccctgttactttcatccataatttatagtacatccattttgtgtcattttgcttcaggtatttcttgtcctgactgtcttcttttttatgattttactgtttcttcacactaatggctttgtcctctgactttgactctttgtgagattcttctgagcagttaacctctaggataatgtggcttgaacacattacagaactatgttttgacttgttagtattattcacacattcatgacaattgagcctctctactgtgagaaatgttttagaggccagtttctaggcatagctgtttttctcccatgagtatgcaaatcaatagttttaaccattgttaaaatgcaatcatagtgacttcagaaaatttggaaaatacagaaaatatagggaagaataaaattaacccacagttctgtcacctaaaggtaactgctgccaatgttttcatgtatttcttttctgtctctccaatgcatttttttacatagttgtgagcgttagccaagttattttcatgttgttatgtaatcaatatttttcaatagaagtattagaggttttttttattgatataaaaataacaattacagatcctgatatatagaagttattcaaaattatacagttttcaaaaaatcaagacaagtaggcccaatacaaactactgaatcatcttctaatttccctctaaaatatttatagaaatatgtaagtagaaaaacattcatcctttcctcgtctaattatgatcctgccatattccaggcacaagagaaagctctggggcttgagtcttaatagggctgatagtccaaccaggggacagggtatcataaagagataattcaaaactttaagattggagggtaggtgatggtagaaaattctgcggcaaacatttgttgatgctcatcatttgttgatgtcatcaaagatcaccagggcataattataatcaaaattagttttattgatgcttgctgcagcaagagagactgcacaccactggggtctatgggtgcttctcagtgggaaggtgtaaggaggggcttgctaagaatttgagcacatgtagctaattttaaggagggctcaagtgagcaagggtttcttctggattgagtgctgtcagaaagtggattgagtgctgtcagaaagtgggagtgattttgcaactgggtatcttaatttttatgttgtgggtgggaggaaaggaaagaagcaacagtcacccatgttagccacaagaagaggttggctgtttatggtttgcacagtgactttgtttttatctgtgctcaggcatgattacagtatctcattttatccggattacagtgacctcatctgatgttagagatttgagaattgttaaatgttcagcaggagaacgccaccgcctagtgtgaatgctaggtcagaagctgctttttcacactgaaaccatttaagtatgtacaaataagttaatagtgtaaatgtaggtgtaaaatacaatgcaaaacaaaataatgaagtaagtgaattaaattattgcaccaaatatggggatatgaaatagggaaagaaaagcattaagttacttatagtccataaagggactacattattttgttactctgataatcccataaaacaaagttttaagaatgtttacagtaaccatgaatggaattagtgaaactattcatatcaatgcaaaaaaaaaaaaaaaaaaagcaaagaaactaagtctgtacagcaaaagatggaaaggaaacaagaaaattaaatgaagacaaaggttgtgattattacagtaaatgaaaataggtttttatctttaaaatgtagactcaaactgcaaagctaatgatatgctatctgcaaaatattcctattttgtaaataaataaaaccatagatttaaagaagaaagggcacagatgtactggggagacaaaaataactgatccgttgggtgtataccatgtgccaagcaattttcatatactcatttaacatgacatatctataattatatgaggcagatattattaacctcagtctatagatgagaagactaaagctcagagggattgctaaaaactagtaaataaattatggaaccatgatttgaatttagatttaagtctgactgaggcatgttcagagacactacactgcctctccagaaatcaggagtagcaatattaacactggacaaagaatttaaagcaagtaaaaaaaaattaagagaatttcatattaataacaagtataatgcacaataaaactgtaccaaatgacataaaaatgcataatgaaatttattagaaattaaaaattaaagggcatagttacaattattgaggaattctcatagctctgccttatagatcatgtaaacaaacaaggtcatagaggacttaaatagcaaagcagaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:10767 -> Molecular function: GO:0003746 [translation elongation factor activity] evidence: IEA
            GeneID:10767 -> Molecular function: GO:0003924 [GTPase activity] evidence: IEA
            GeneID:10767 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA
            GeneID:10767 -> Biological process: GO:0006412 [translation] evidence: TAS
            GeneID:10767 -> Biological process: GO:0007165 [signal transduction] evidence: TAS

by @meso_cacase at DBCLS
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