GGRNA | NM_001256308.1

LOCUS       NM_001256308            2328 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens dystrobrevin, beta (DTNB), transcript variant 8, mRNA.
ACCESSION   NM_001256308
VERSION     NM_001256308.1  GI:372626424
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 2328)
  AUTHORS   Broderick,P., Chubb,D., Johnson,D.C., Weinhold,N., Forsti,A.,
            Lloyd,A., Olver,B., Ma,Y.P., Dobbins,S.E., Walker,B.A.,
            Davies,F.E., Gregory,W.A., Child,J.A., Ross,F.M., Jackson,G.H.,
            Neben,K., Jauch,A., Hoffmann,P., Muhleisen,T.W., Nothen,M.M.,
            Moebus,S., Tomlinson,I.P., Goldschmidt,H., Hemminki,K., Morgan,G.J.
            and Houlston,R.S.
  TITLE     Common variation at 3p22.1 and 7p15.3 influences multiple myeloma
            risk
  JOURNAL   Nat. Genet. 44 (1), 58-61 (2012)
   PUBMED   22120009
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2328)
  AUTHORS   Artegiani,B., Labbaye,C., Sferra,A., Quaranta,M.T., Torreri,P.,
            Macchia,G., Ceccarini,M., Petrucci,T.C. and Macioce,P.
  TITLE     The interaction with HMG20a/b proteins suggests a potential role
            for beta-dystrobrevin in neuronal differentiation
  JOURNAL   J. Biol. Chem. 285 (32), 24740-24750 (2010)
   PUBMED   20530487
  REMARK    GeneRIF: beta-dystrobrevin interacts with the HMG20 proteins iBRAF
            and BRAF35
REFERENCE   3  (bases 1 to 2328)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat. Genet. 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   4  (bases 1 to 2328)
  AUTHORS   Nazarian,R., Starcevic,M., Spencer,M.J. and Dell'Angelica,E.C.
  TITLE     Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of
            lysosome-related organelles complex-1) as a dystrobrevin-binding
            protein
  JOURNAL   Biochem. J. 395 (3), 587-598 (2006)
   PUBMED   16448387
  REMARK    GeneRIF: results suggest that dysbindin assembled into BLOC-1 is
            not a physiological binding partner of the dystrobrevins, likely
            due to engagement of its dystrobrevin-binding region in
            interactions with other subunits
REFERENCE   5  (bases 1 to 2328)
  AUTHORS   Hillman,R.T., Green,R.E. and Brenner,S.E.
  TITLE     An unappreciated role for RNA surveillance
  JOURNAL   Genome Biol. 5 (2), R8 (2004)
   PUBMED   14759258
REFERENCE   6  (bases 1 to 2328)
  AUTHORS   Piluso,G., Mirabella,M., Ricci,E., Belsito,A., Abbondanza,C.,
            Servidei,S., Puca,A.A., Tonali,P., Puca,G.A. and Nigro,V.
  TITLE     Gamma1- and gamma2-syntrophins, two novel dystrophin-binding
            proteins localized in neuronal cells
  JOURNAL   J. Biol. Chem. 275 (21), 15851-15860 (2000)
   PUBMED   10747910
REFERENCE   7  (bases 1 to 2328)
  AUTHORS   Blake,D.J., Hawkes,R., Benson,M.A. and Beesley,P.W.
  TITLE     Different dystrophin-like complexes are expressed in neurons and
            glia
  JOURNAL   J. Cell Biol. 147 (3), 645-658 (1999)
   PUBMED   10545507
REFERENCE   8  (bases 1 to 2328)
  AUTHORS   Puca,A.A., Nigro,V., Piluso,G., Belsito,A., Sampaolo,S.,
            Quaderi,N., Rossi,E., Di Iorio,G., Ballabio,A. and Franco,B.
  TITLE     Identification and characterization of a novel member of the
            dystrobrevin gene family
  JOURNAL   FEBS Lett. 425 (1), 7-13 (1998)
   PUBMED   9540997
REFERENCE   9  (bases 1 to 2328)
  AUTHORS   Peters,M.F., O'Brien,K.F., Sadoulet-Puccio,H.M., Kunkel,L.M.,
            Adams,M.E. and Froehner,S.C.
  TITLE     beta-dystrobrevin, a new member of the dystrophin family.
            Identification, cloning, and protein associations
  JOURNAL   J. Biol. Chem. 272 (50), 31561-31569 (1997)
   PUBMED   9395493
REFERENCE   10 (bases 1 to 2328)
  AUTHORS   Straub,V. and Campbell,K.P.
  TITLE     Muscular dystrophies and the dystrophin-glycoprotein complex
  JOURNAL   Curr. Opin. Neurol. 10 (2), 168-175 (1997)
   PUBMED   9146999
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK301386.1 and BC016655.1.
            
            Summary: This gene encodes dystrobrevin beta, a component of the
            dystrophin-associated protein complex (DPC). The DPC consists of
            dystrophin and several integral and peripheral membrane proteins,
            including dystroglycans, sarcoglycans, syntrophins and dystrobrevin
            alpha and beta. The DPC localizes to the sarcolemma and its
            disruption is associated with various forms of muscular dystrophy.
            Dystrobrevin beta is thought to interact with syntrophin and the
            DP71 short form of dystrophin. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (8) differs in the 5' UTR, lacks a
            portion of the 5' coding region, initiates translation at a
            downstream AUG start codon, and lacks two in-frame exons in the 3'
            coding region, compared to variant 1. The resulting isoform (8) has
            a shorter N-terminus and lacks two internal segments, compared to
            isoform 1.
            
            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 :: AK301386.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-438               AK301386.1         3-440
            439-1213            BC016655.1         461-1235
            1214-2328           AK301386.1         1216-2330
FEATURES             Location/Qualifiers
     source          1..2328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24"
     gene            1..2328
                     /gene="DTNB"
                     /note="dystrobrevin, beta"
                     /db_xref="GeneID:1838"
                     /db_xref="HGNC:3058"
                     /db_xref="MIM:602415"
     exon            1..201
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    177..179
                     /gene="DTNB"
                     /note="upstream in-frame stop codon"
     exon            202..282
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            283..496
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     CDS             306..1943
                     /gene="DTNB"
                     /note="isoform 8 is encoded by transcript variant 8;
                     DTN-B; beta-dystrobrevin"
                     /codon_start=1
                     /product="dystrobrevin beta isoform 8"
                     /protein_id="NP_001243237.1"
                     /db_xref="GI:372626425"
                     /db_xref="CCDS:CCDS58702.1"
                     /db_xref="GeneID:1838"
                     /db_xref="HGNC:3058"
                     /db_xref="MIM:602415"
                     /translation="

MIEAFRDNGLNTLDHTTEISVSRLETVISSIYYQLNKRLPSTHQISVEQSISLLLNFMIAAYDSEGRGKLTVFSVKAMLATMCGGKMLDKLRYVFSQMSDSNGLMIFSKFDQFLKEVLKLPTAVFEGPSFGYTEHSVRTCFPQQRKIMLNMFLDTMMADPPPQCLVWLPLMHRLAHVENVFHPVECSYCRCESMMGFRYRCQQCHNYQLCQNCFWRGHAGGPHSNQHQMKEHSSWKSPAKKLSHAISKSLGCVPTREPPHPVFPEQPEKPLDLAHIVPPRPLTNMNDTMVSHMSSGVPTPTKRLQYSQDIPSHLADEHALIASYVARLQHCARVLDSPSRLDEEHRLIARYAARLAAEAGNVTRPPTDLSFNFDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEELMKLLKAQATGSPHTSPTHGGGRPMPMPVRSTSAGSTPTHCPQDSLSGVGGDVQEAFAQGTRRNLRNDLLVAADSITNTMSSLVKELHSG

"
     misc_feature    <306..554
                     /gene="DTNB"
                     /note="EF hand; Region: efhand_1; pfam09068"
                     /db_xref="CDD:149945"
     misc_feature    564..830
                     /gene="DTNB"
                     /note="EF-hand; Region: efhand_2; pfam09069"
                     /db_xref="CDD:149946"
     misc_feature    855..1001
                     /gene="DTNB"
                     /note="Zinc finger, ZZ type. Zinc finger present in
                     dystrophin and dystrobrevin. The ZZ motif coordinates two
                     zinc ions and most likely participates in ligand binding
                     or molecular scaffolding. Dystrophin attaches actin
                     filaments to an integral membrane...; Region:
                     ZZ_dystrophin; cd02334"
                     /db_xref="CDD:30238"
     misc_feature    order(861..863,870..872,906..908,915..917,933..935,
                     942..944,972..974,984..986)
                     /gene="DTNB"
                     /note="Zinc-binding sites [ion binding]; other site"
                     /db_xref="CDD:30238"
     misc_feature    order(861..863,870..872,933..935,942..944)
                     /gene="DTNB"
                     /note="zinc cluster 1 [ion binding]; other site"
                     /db_xref="CDD:30238"
     misc_feature    order(864..866,897..899,903..905,921..923,927..929)
                     /gene="DTNB"
                     /note="putative charged binding surface; other site"
                     /db_xref="CDD:30238"
     misc_feature    order(900..902,945..947,990..992,999..1001)
                     /gene="DTNB"
                     /note="putative hydrophobic binding surface; other site"
                     /db_xref="CDD:30238"
     misc_feature    order(906..908,915..917,972..974,984..986)
                     /gene="DTNB"
                     /note="zinc cluster 2 [ion binding]; other site"
                     /db_xref="CDD:30238"
     misc_feature    <1452..1676
                     /gene="DTNB"
                     /note="Seryl-tRNA synthetase N-terminal domain; Region:
                     Seryl_tRNA_N; pfam02403"
                     /db_xref="CDD:202232"
     exon            497..582
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            583..737
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            738..843
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            844..1010
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1011..1135
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1136..1213
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1214..1303
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1304..1391
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     variation       1387
                     /gene="DTNB"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:34836260"
     exon            1392..1477
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1478..1591
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1592..1688
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1689..1848
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1849..1938
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1939..1972
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1973..2328
                     /gene="DTNB"
                     /inference="alignment:Splign:1.39.8"
     STS             2040..2276
                     /gene="DTNB"
                     /standard_name="RH80433"
                     /db_xref="UniSTS:93073"
     polyA_site      2283
                     /gene="DTNB"
ORIGIN

aaacacagtaattcctgatactaagaagaggctggggtgccttaagtaatacgcatgcaggcgttgatggggtagagatctgaagtagtcctgccaagaactgggtttacttctttgtgaatgttactactcttacacagaaacctcatatgaattatcatcctctgacttaaggataacagtcagtctgggagacgtttggtgctcagaattttgatgtcatacgactatcaacttacagaacagcctgcaaattacgatttgtacaaaaacgatgcaaccttcatcttgttgatatctggaacatgattgaagccttccgagacaatggccttaatacactggaccataccaccgagatcagtgtgtcccgcctcgaaactgtcatctcctccatctactatcagttgaacaagcgccttccttctactcaccaaattagtgtggaacaatctatcagcctcctcctcaactttatgattgctgcatatgacagtgagggccgaggcaagttgacggtattttcagttaaagctatgttagcaaccatgtgtggtggaaaaatgctggacaaattgagatatgttttctcccagatgtcagattccaatggcttaatgatatttagcaagtttgaccagtttctgaaggaagttctgaagctcccaacagctgtctttgaagggccatcttttggttacacagagcactcagtccgcacctgttttccacagcagagaaagataatgctaaatatgtttttagacacaatgatggctgaccctcctccccagtgccttgtctggctacctctcatgcacaggcttgcccatgttgagaatgtcttccatcccgtggagtgctcctactgccgatgtgagagtatgatgggtttccggtaccgatgccagcagtgccacaactatcagctctgccagaattgcttttggcgtggccatgccggcggccctcacagcaaccagcaccagatgaaggagcattcctcttggaaatctcctgcaaagaagctgagccatgcaattagtaaatctttggggtgtgtacccacgagagaacccccgcatcctgtttttcctgagcaaccagagaaaccacttgaccttgcacatatagttcctcctcgccctctgactaatatgaatgacaccatggttagccacatgtcctctggagtgcccactcccaccaagaggttacagtatagccaggatatacccagtcacttggccgatgagcatgcgctgatagcctcctatgtggcccgtctgcagcactgtgcacgtgttctggacagtcctagccgactggatgaggaacaccgtcttatagctcgctatgctgcccggctggctgcagaagcaggaaacgtgactcgtcctcccactgacttgagctttaactttgatgccaacaaacaacaaagacagcttattgcagaactggaaaacaaaaacagagagatcctgcaggagattcagcgtctccgcctggaacacgagcaggcctcccagcccacccctgagaaggcacagcagaaccccacgctgctggcagagctgcggctgctgaggcaaaggaaggatgaactggagcagaggatgtcggccctgcaggagagcaggcgggagctgatggtccagctggaagagctgatgaagttgctgaaggctcaggccacagggtcaccacatacatcgcccacccatggaggcggccggccaatgcccatgccagtgcgctccacgtctgccggctccacccccacccactgtccgcaggactcgctgagcggagtcgggggagacgtgcaggaggccttcgcacaaggtacgaggagaaacctccgcaatgacctgctggtggcagctgactccatcaccaacaccatgtcatccctggtgaaggagctccattcaggttagcagaggagccggacacagaggaagctcaggcacagaggacgaggagcaagctggcgccgacatggcgaaggcaaggtcttcccccagaggcacattcctctccatctttccaccgcacacctggaccaggcttgcaggctgccagacgtcactccacccgccagggagaggggagccagagccggtgggaagcggggaggggctgcgtggcacagctagtgggcctccccctgcacagccctgcatgtactagcaccttcatcactcccctcagggcatggtctcatctccgcatcaggaattcacctggaggttgaaaagagaaaagaaaaagcaccaagctcttgtgtgtttgtgacctgatgaaacacttcctggcgtctgg

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