LOCUS       NM_001198941            4333 bp    mRNA    linear   PRI 21-OCT-2024
DEFINITION  Homo sapiens dystrobrevin alpha (DTNA), transcript variant 13,
            mRNA.
ACCESSION   NM_001198941
VERSION     NM_001198941.2
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 4333)
  AUTHORS   Nascimento,A., Bruels,C.C., Donkervoort,S., Foley,A.R., Codina,A.,
            Milisenda,J.C., Estrella,E.A., Li,C., Pijuan,J., Draper,I., Hu,Y.,
            Stafki,S.A., Pais,L.S., Ganesh,V.S., O'Donnell-Luria,A.,
            Syeda,S.B., Carrera-Garcia,L., Exposito-Escudero,J., Yubero,D.,
            Martorell,L., Pinal-Fernandez,I., Lidov,H.G.W., Mammen,A.L.,
            Grau-Junyent,J.M., Ortez,C., Palau,F., Ghosh,P.S., Darras,B.T.,
            Jou,C., Kunkel,L.M., Hoenicka,J., Bonnemann,C.G., Kang,P.B. and
            Natera-de Benito,D.
  TITLE     Variants in DTNA cause a mild, dominantly inherited muscular
            dystrophy
  JOURNAL   Acta Neuropathol 145 (4), 479-496 (2023)
   PUBMED   36799992
  REMARK    GeneRIF: Variants in DTNA cause a mild, dominantly inherited
            muscular dystrophy.
REFERENCE   2  (bases 1 to 4333)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 4333)
  AUTHORS   Malakootian,M., Jalilian,M., Kalayinia,S., Hosseini Moghadam,M.,
            Heidarali,M. and Haghjoo,M.
  TITLE     Whole-exome sequencing reveals a rare missense variant in DTNA in
            an Iranian pedigree with early-onset atrial fibrillation
  JOURNAL   BMC Cardiovasc Disord 22 (1), 37 (2022)
   PUBMED   35148685
  REMARK    GeneRIF: Whole-exome sequencing reveals a rare missense variant in
            DTNA in an Iranian pedigree with early-onset atrial fibrillation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4333)
  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   5  (bases 1 to 4333)
  AUTHORS   Fu,G., Pei,Z. and Song,N.
  TITLE     Oncogenic microRNA-301b regulates tumor repressor dystrobrevin
            alpha to facilitate cell growth, invasion and migration in
            esophageal cancer
  JOURNAL   Esophagus 18 (2), 315-325 (2021)
   PUBMED   32737801
  REMARK    GeneRIF: Oncogenic microRNA-301b regulates tumor repressor
            dystrobrevin alpha to facilitate cell growth, invasion and
            migration in esophageal cancer.
REFERENCE   6  (bases 1 to 4333)
  AUTHORS   Sadoulet-Puccio,H.M., Feener,C.A., Schaid,D.J., Thibodeau,S.N.,
            Michels,V.V. and Kunkel,L.M.
  TITLE     The genomic organization of human dystrobrevin
  JOURNAL   Neurogenetics 1 (1), 37-42 (1997)
   PUBMED   10735273
REFERENCE   7  (bases 1 to 4333)
  AUTHORS   Blake,D.J., Nawrotzki,R., Peters,M.F., Froehner,S.C. and
            Davies,K.E.
  TITLE     Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic
            protein
  JOURNAL   J Biol Chem 271 (13), 7802-7810 (1996)
   PUBMED   8631824
REFERENCE   8  (bases 1 to 4333)
  AUTHORS   Ahn,A.H., Freener,C.A., Gussoni,E., Yoshida,M., Ozawa,E. and
            Kunkel,L.M.
  TITLE     The three human syntrophin genes are expressed in diverse tissues,
            have distinct chromosomal locations, and each bind to dystrophin
            and its relatives
  JOURNAL   J Biol Chem 271 (5), 2724-2730 (1996)
   PUBMED   8576247
REFERENCE   9  (bases 1 to 4333)
  AUTHORS   Ahn,A.H. and Kunkel,L.M.
  TITLE     Syntrophin binds to an alternatively spliced exon of dystrophin
  JOURNAL   J Cell Biol 128 (3), 363-371 (1995)
   PUBMED   7844150
REFERENCE   10 (bases 1 to 4333)
  AUTHORS   Khurana,T.S., Engle,E.C., Bennett,R.R., Silverman,G.A., Selig,S.,
            Bruns,G.A. and Kunkel,L.M.
  TITLE     (CA) repeat polymorphism in the chromosome 18 encoded
            dystrophin-like protein
  JOURNAL   Hum Mol Genet 3 (5), 841 (1994)
   PUBMED   8081380
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291156.1 and AC068506.10.
            
            On Jun 2, 2019 this sequence version replaced NM_001198941.1.
            
            Summary: The protein encoded by this gene belongs to the
            dystrobrevin subfamily of the dystrophin family. This protein is a
            component of the dystrophin-associated protein complex (DPC), which
            consists of dystrophin and several integral and peripheral membrane
            proteins, including dystroglycans, sarcoglycans, syntrophins and
            alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma
            and its disruption is associated with various forms of muscular
            dystrophy. Mutations in this gene are associated with left
            ventricular noncompaction with congenital heart defects. Multiple
            alternatively spliced transcript variants encoding different
            isoforms have been identified for this gene. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (13) differs in the CDS, lacks
            multiple exons from the 3' UTR and contains an alternate 3' exon
            compared to variant 1. The resulting isoform (13) lacks two
            internal segments and has a much shorter and distinct C-terminus,
            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 :: AK291156.1, SRR1803616.140642.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1868              AK291156.1         2-1869
            1869-4333           AC068506.10        71051-73515         c
FEATURES             Location/Qualifiers
     source          1..4333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4333
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="dystrobrevin alpha"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
     exon            1..148
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            149..216
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1682
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="isoform 13 is encoded by transcript variant 13;
                     dystrophin-related protein 3"
                     /codon_start=1
                     /product="dystrobrevin alpha isoform 13"
                     /protein_id="NP_001185870.1"
                     /db_xref="CCDS:CCDS59310.1"
                     /db_xref="GeneID:1837"
                     /db_xref="HGNC:HGNC:3057"
                     /db_xref="MIM:601239"
                     /translation="MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFV
                     QKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQI
                     HVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
                     VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPP
                     PQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHA
                     GGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIV
                     PPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQ
                     PPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
                     NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYC
                     RS"
     exon            217..297
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            298..511
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            512..597
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            598..752
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            753..858
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1025
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1150
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1234
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1322
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1420
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1534
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1631
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..4333
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2499
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="major polyA site"
     regulatory      2837..2842
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="hexamer: AATAAA"
     polyA_site      2859
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="major polyA site"
     regulatory      4307..4312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
                     /note="hexamer: AATAAA"
     polyA_site      4333
                     /gene="DTNA"
                     /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1; MMCKR2"
ORIGIN      
        1 aagaatgaac acagcttttt attgaagtta aaggttactt tggagtttgt ttggaaatgt
       61 gtaaggtcaa atactatagt tttcagcata tgtagtactt cagaggaaga attaaggggc
      121 atgttggtgc atttaactac aaaaccagaa tgattgaaga tagtgggaaa agaggaaata
      181 ccatggcaga aagaagacag ctgtttgcag agatgagggc tcaagatctg gatcgcatcc
      241 gactctccac ctacagaaca gcatgcaagc ttaggtttgt tcagaagaaa tgcaatttgc
      301 acctggtgga catatggaat gtcatagaag cattgcggga aaatgctctg aacaacctgg
      361 acccaaacac tgaactcaac gtgtcccgct tagaggctgt gctctccact attttttacc
      421 agctcaacaa acggatgcca accactcacc aaatccatgt ggagcagtcc atcagcctcc
      481 tccttaactt cctgcttgca gcgtttgatc cggaaggcca tggtaaaatt tcagtatttg
      541 ctgtcaaaat ggctttagcc acattgtgtg gagggaagat catggacaaa ttaagatata
      601 ttttctcaat gatttctgac tccagtgggg tgatggttta tggacgatat gaccaattcc
      661 ttcgggaagt tctcaaacta cccacggcag tttttgaagg tccttcattt ggttacacag
      721 aacagtcagc cagatcctgt ttctcccaac agaaaaaagt cacgttaaat ggtttcttgg
      781 acacgcttat gtcagatcct cccccgcagt gtctggtctg gttgcctctt ctgcatcgac
      841 tagcaaatgt ggaaaatgtc ttccatccgg ttgagtgttc ctactgccac agtgagagta
      901 tgatgggatt tcgctaccga tgccaacagt gtcacaatta ccagctctgt caggactgct
      961 tctggagggg acatgccggt ggttctcata gcaaccagca ccaaatgaaa gagtacacgt
     1021 catggaaatc acctgctaag aagctgacta atgcattaag caagtccctg agctgtgctt
     1081 ccagccgtga acctttgcac cccatgttcc cagatcagcc tgagaagcca ctcaacttgg
     1141 ctcacatcgt gcctcccaga cctgtaacca gcatgaacga caccctgttc tcccactctg
     1201 ttccctcctc aggaagtcct tttattacca ggagcatgct tgagagttca aaccggcttg
     1261 atgaagaaca caggctaatt gccaggtatg cggcaaggct ggcagcagag tcctcttcgt
     1321 ctcagccacc tcagcagaga agtgctcctg acatctcttt caccatcgat gcgaataagc
     1381 agcaaaggca gctgattgct gagctagaaa acaagaacag agaaatctta caggagatcc
     1441 agagacttcg gctagagcat gaacaagctt ctcagcccac gccagagaag gcacagcaaa
     1501 accccaccct gctggcagaa ctccggctcc tcagacagcg caaagatgag ctggaacaga
     1561 gaatgtctgc tctccaggag agccggagag agctaatggt ccagttggag ggtctcatga
     1621 agctactaaa ggaagaagaa ctgaagcagg gagtaagtta tgtcccctac tgcaggtctt
     1681 aactaacagt ggaggggcct gccgacctgc ggttttctca ttgcttttgc tctaatgtat
     1741 gttcatgctt cagtttggaa agagaaaaaa gtcatactaa tttgcttctt tttcaatgta
     1801 gtgcttgaat tgagatatat aaatttagca ttttttataa ctatcactac tatccacatc
     1861 aaaagaagaa ctatgacatc ttttagaaaa gggaacgaat tgtcatttat tggaaacatt
     1921 ttagatcccc agaggtataa gtttcaaacc agtcttagct tttcaagttg ttgatcagac
     1981 ccttctctta acagagagat accacagtca ctagagatac cctgaggttc atgtcatccc
     2041 aaaacccaca gcactcagaa gctaacctct acacccactc acactgtgag tattcagttc
     2101 ggtttcattt tactgaaaac ctgtgaaacc tctttttata aaaatcaggc aattaaatcc
     2161 cttttcatca cacaattatt gagccttgtt ccccatggct caccaaaatg tgctcaattt
     2221 tgtgagagaa agactgtact ccataactga ctattcacgt cccatctttt tggctcttcc
     2281 ccaaagcaga atccttactg ttggttgaca gtaatctctt tttaaaaagt aactctcagc
     2341 tttttcctta gcaccagagc ctttcggctc cgggagacga gagggtcatt acatactttt
     2401 ttttttttct ggaaataggg gcattgtgac tttatagcct aaactggagc tgtctgaacc
     2461 tgtggtcagg ctcaagagcc agcaggggga gcagcaaact caaaaaaaaa aacaaattaa
     2521 attaaattaa attaaattaa atagaagcaa aataaaagca gctttaattt caagtgcatg
     2581 taccacgcta tgtatgacaa tatatcccac tcactagcat tatttaaaag tttcacatta
     2641 tttccatgga tcaattagaa ccacaacctg tccaatttca acgtatcttt catttcttct
     2701 gtatgctctt ttctattatt cattatgtgt gtttgtgtgt aacaaagaat gtttggaaaa
     2761 tgctggacac atttttaccc ttcattccca tggtctgtaa aaaaggaaag tgtaaaatca
     2821 atctgtaatg tcagacaata aagataatgt attacattat tttgtatttt gtgaaaaaaa
     2881 ttactttact aaattaaagt caaattttaa cagaagacag tccccctggg tgaaggacac
     2941 ataacacata cagcctgtat aattgcccat gaatgcatac atggggtatt gctattgtat
     3001 ttccaataca cttagatcat ggtaaagaaa aatgccttct tcatgatact tctctgcaaa
     3061 tggcttcttt cctctcctgt ctcttattta gcatgtgcat agaaaaagga aataaggttc
     3121 aattataacc tccctcctcc tagcagagag agagggcaat catcctgtcg tcatcagcct
     3181 tgctttagcc atttcccttg gggatacttt ccaggccatt tcccaggcag caggatcttg
     3241 aaaggctcct atggaccagg aagttcgtaa acagatggat gcacagagcc aaactgtggc
     3301 agtgccccca aggtggcgcc actgccccct caccttccag ctcctctcca ccaagcccct
     3361 cagcagcttc tgcatctcag ggggccaaca gcgggtactg cggtgtcggt acccaaggac
     3421 cagggcccac gtcacccaga tgtcagcaat acatcgtctg ggtagtggca gagtttgcct
     3481 atttcactta tttatctttt ttgcttttat acacaagcct cttttcaaaa aggacctgag
     3541 gcagcttaca acaaaagata taaacagtga cttcataaaa ttgaaataga aaaatcaaaa
     3601 actaaagaaa ataaaatgtg aatatgctaa tcttaaggga caaggatgtt actctgcatg
     3661 ttctggcaat gaagcaaaaa aaaaaaaaaa aggaaaatta tcggtggttt tatcagtaca
     3721 gaaataccac ttctcagggg aacaaaattt ctgttggcat aaaatatgaa agaaagtctt
     3781 cactgggagc tttataggag tactggacga tagaaaagga aaaaaagcag tcatagattt
     3841 catgtggctg tttcttatac tgacctcagt caaaattaaa agcagaacct tatcaatccc
     3901 agccctatag aggcggttct gcaaggaaat aaacaaatgc tgtccaaata tagacttctc
     3961 atggtaaaac atgatctaag gagagaattt agaggtttta gactggcatc tgcttctaaa
     4021 ttctgttttt atttatgagt gtttctcccc tttggggaca ttgtctttgt aaaaccaaac
     4081 ttagaacacc cccacacaac aaattgtgct ggatttaata acctctactt gctttatcat
     4141 aagtctgtgt ggttcaatgt agtgttttat tatactggca tatataattt ctacttacat
     4201 tgtttcttgt tagaggtaat gcatgaattt atccctctcg aggagagaac atgaattaaa
     4261 aaaaatagtg cctgtaatat aatgtgatga ttatgatatc acaagcaata aatttttttt
     4321 tacaaaactt gaa
//
