LOCUS       NM_021907               2417 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens dystrobrevin beta (DTNB), transcript variant 1, mRNA.
ACCESSION   NM_021907
VERSION     NM_021907.5
KEYWORDS    RefSeq; MANE Select.
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 2417)
  AUTHORS   Prokopenko,D., Lee,S., Hecker,J., Mullin,K., Morgan,S.,
            Katsumata,Y., Weiner,M.W., Fardo,D.W., Laird,N., Bertram,L.,
            Hide,W., Lange,C. and Tanzi,R.E.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     Region-based analysis of rare genomic variants in whole-genome
            sequencing datasets reveal two novel Alzheimer's disease-associated
            genes: DTNB and DLG2
  JOURNAL   Mol Psychiatry 27 (4), 1963-1969 (2022)
   PUBMED   35246634
  REMARK    GeneRIF: Region-based analysis of rare genomic variants in
            whole-genome sequencing datasets reveal two novel Alzheimer's
            disease-associated genes: DTNB and DLG2.
REFERENCE   2  (bases 1 to 2417)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2417)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2417)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2417)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 2417)
  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 2417)
  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 2417)
  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 2417)
  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 2417)
  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 DB460644.1 and AF022728.1.
            
            On Aug 13, 2020 this sequence version replaced NM_021907.4.
            
            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. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AF022728.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000406818.8/ ENSP00000384084.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DB460644.1         71-102
            33-2417             AF022728.1         1-2385
FEATURES             Location/Qualifiers
     source          1..2417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2417
                     /gene="DTNB"
                     /note="dystrobrevin beta"
                     /db_xref="GeneID:1838"
                     /db_xref="HGNC:HGNC:3058"
                     /db_xref="MIM:602415"
     exon            1..192
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            193..260
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..2077
                     /gene="DTNB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     DTN-B; beta-dystrobrevin"
                     /codon_start=1
                     /product="dystrobrevin beta isoform 1"
                     /protein_id="NP_068707.1"
                     /db_xref="CCDS:CCDS46237.1"
                     /db_xref="GeneID:1838"
                     /db_xref="HGNC:HGNC:3058"
                     /db_xref="MIM:602415"
                     /translation="MIEESGNKRKTMAEKRQLFIEMRAQNFDVIRLSTYRTACKLRFV
                     QKRCNLHLVDIWNMIEAFRDNGLNTLDHTTEISVSRLETVISSIYYQLNKRLPSTHQI
                     SVEQSISLLLNFMIAAYDSEGRGKLTVFSVKAMLATMCGGKMLDKLRYVFSQMSDSNG
                     LMIFSKFDQFLKEVLKLPTAVFEGPSFGYTEHSVRTCFPQQRKIMLNMFLDTMMADPP
                     PQCLVWLPLMHRLAHVENVFHPVECSYCRCESMMGFRYRCQQCHNYQLCQNCFWRGHA
                     GGPHSNQHQMKEHSSWKSPAKKLSHAISKSLGCVPTREPPHPVFPEQPEKPLDLAHIV
                     PPRPLTNMNDTMVSHMSSGVPTPTKRLQYSQDIPSHLADEHALIASYVARLQHCARVL
                     DSPSRLDEEHRLIARYAARLAAEAGNVTRPPTDLSFNFDANKQQRQLIAELENKNREI
                     LQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMV
                     QLEELMKLLKEEEQKQAAQATGSPHTSPTHGGGRPMPMPVRSTSAGSTPTHCPQDSLS
                     GVGGDVQEAFAQGTRRNLRNDLLVAADSITNTMSSLVKELHSAEEGAEEEEEKMQNGK
                     DRG"
     exon            261..341
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            342..555
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            556..641
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            642..796
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            797..902
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1069
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1194
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1272
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1362
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1450
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1536
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1650
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1747
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1748..1768
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1928
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2018
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            2019..2072
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2106
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2417
                     /gene="DTNB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2403..2408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTNB"
                     /note="hexamer: AAGAAA"
     polyA_site      2417
                     /gene="DTNB"
                     /note="major polyA site"
ORIGIN      
        1 gcgggcgctg cgcgtgccgg gcggagaagc ggcgcgagcc gggcgctgcg aacgttcgcc
       61 gcgggggtgg ctccggggcc tgagtaggcg ctgccgctgc ctcagccgag ggggctgggc
      121 cggagcgtgc ggaggagtga ggccgcagga gaccttcccg acgacccctg ctccggcggg
      181 gaagtgagca aggatgattg aggaaagtgg gaacaagcgg aagaccatgg cagagaagag
      241 gcagctgttc atagaaatgc gtgctcagaa ttttgatgtc atacgactat caacttacag
      301 aacagcctgc aaattacgat ttgtacaaaa acgatgcaac cttcatcttg ttgatatctg
      361 gaacatgatt gaagccttcc gagacaatgg ccttaataca ctggaccata ccaccgagat
      421 cagtgtgtcc cgcctcgaaa ctgtcatctc ctccatctac tatcagttga acaagcgcct
      481 tccttctact caccaaatta gtgtggaaca atctatcagc ctcctcctca actttatgat
      541 tgctgcatat gacagtgagg gccgaggcaa gttgacggta ttttcagtta aagctatgtt
      601 agcaaccatg tgtggtggaa aaatgctgga caaattgaga tatgttttct cccagatgtc
      661 agattccaat ggcttaatga tatttagcaa gtttgaccag tttctgaagg aagttctgaa
      721 gctcccaaca gctgtctttg aagggccatc ttttggttac acagagcact cagtccgcac
      781 ctgttttcca cagcagagaa agataatgct aaatatgttt ttagacacaa tgatggctga
      841 ccctcctccc cagtgccttg tctggctacc tctcatgcac aggcttgccc atgttgagaa
      901 tgtcttccat cccgtggagt gctcctactg ccgatgtgag agtatgatgg gtttccggta
      961 ccgatgccag cagtgccaca actatcagct ctgccagaat tgcttttggc gtggccatgc
     1021 cggcggccct cacagcaacc agcaccagat gaaggagcat tcctcttgga aatctcctgc
     1081 aaagaagctg agccatgcaa ttagtaaatc tttggggtgt gtacccacga gagaaccccc
     1141 gcatcctgtt tttcctgagc aaccagagaa accacttgac cttgcacata tagttcctcc
     1201 tcgccctctg actaatatga atgacaccat ggttagccac atgtcctctg gagtgcccac
     1261 tcccaccaag aggttacagt atagccagga tatacccagt cacttggccg atgagcatgc
     1321 gctgatagcc tcctatgtgg cccgtctgca gcactgtgca cgtgttctgg acagtcctag
     1381 ccgactggat gaggaacacc gtcttatagc tcgctatgct gcccggctgg ctgcagaagc
     1441 aggaaacgtg actcgtcctc ccactgactt gagctttaac tttgatgcca acaaacaaca
     1501 aagacagctt attgcagaac tggaaaacaa aaacagagag atcctgcagg agattcagcg
     1561 tctccgcctg gaacacgagc aggcctccca gcccacccct gagaaggcac agcagaaccc
     1621 cacgctgctg gcagagctgc ggctgctgag gcaaaggaag gatgaactgg agcagaggat
     1681 gtcggccctg caggagagca ggcgggagct gatggtccag ctggaagagc tgatgaagtt
     1741 gctgaaggag gaagagcaaa agcaggcagc tcaggccaca gggtcaccac atacatcgcc
     1801 cacccatgga ggcggccggc caatgcccat gccagtgcgc tccacgtctg ccggctccac
     1861 ccccacccac tgtccgcagg actcgctgag cggagtcggg ggagacgtgc aggaggcctt
     1921 cgcacaaggt acgaggagaa acctccgcaa tgacctgctg gtggcagctg actccatcac
     1981 caacaccatg tcatccctgg tgaaggagct ccattcagca gaggaaggtg cagaggaaga
     2041 agaagagaag atgcagaatg ggaaagacag aggttagcag aggagccgga cacagaggaa
     2101 gctcaggcac agaggacgag gagcaagctg gcgccgacat ggcgaaggca aggtcttccc
     2161 ccagaggcac attcctctcc atctttccac cgcacacctg gaccaggctt gcaggctgcc
     2221 agacgtcact ccacccgcca gggagagggg agccagagcc ggtgggaagc ggggaggggc
     2281 tgcgtggcac agctagtggg cctccccctg cacagccctg catgtactag caccttcatc
     2341 actcccctca gggcatggtc tcatctccgc atcaggaatt cacctggagg ttgaaaagag
     2401 aaaagaaaaa gcaccaa
//
