2025-05-09 17:31:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001198944 5741 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 16, mRNA. ACCESSION NM_001198944 VERSION NM_001198944.1 GI:312147281 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 5741) AUTHORS Navakauskiene,R., Treigyte,G., Borutinskaite,V.V., Matuzevicius,D., Navakauskas,D. and Magnusson,K.E. TITLE Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis JOURNAL J Proteomics 75 (11), 3291-3303 (2012) PUBMED 22507200 REMARK GeneRIF: apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure. REFERENCE 2 (bases 1 to 5741) AUTHORS Borutinskaite,V.V., Magnusson,K.E. and Navakauskiene,R. TITLE alpha-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation JOURNAL Mol. Biol. Rep. 38 (5), 3001-3011 (2011) PUBMED 20111909 REMARK GeneRIF: Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins. REFERENCE 3 (bases 1 to 5741) AUTHORS Lyssand,J.S., Whiting,J.L., Lee,K.S., Kastl,R., Wacker,J.L., Bruchas,M.R., Miyatake,M., Langeberg,L.K., Chavkin,C., Scott,J.D., Gardner,R.G., Adams,M.E. and Hague,C. TITLE Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (50), 21854-21859 (2010) PUBMED 21115837 REMARK GeneRIF: Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome. REFERENCE 4 (bases 1 to 5741) AUTHORS Lanciotti,A., Brignone,M.S., Camerini,S., Serafini,B., Macchia,G., Raggi,C., Molinari,P., Crescenzi,M., Musumeci,M., Sargiacomo,M., Aloisi,F., Petrucci,T.C. and Ambrosini,E. TITLE MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation JOURNAL Neurobiol. Dis. 37 (3), 581-595 (2010) PUBMED 19931615 REFERENCE 5 (bases 1 to 5741) AUTHORS Bohm,S.V., Constantinou,P., Tan,S., Jin,H. and Roberts,R.G. TITLE Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat JOURNAL BMC Biol. 7, 85 (2009) PUBMED 19961569 REMARK GeneRIF: Fundamental functional differences between the alpha-dystrobrevins of mice and humans raises questions about the use of the mouse as a model animal for Duchenne muscular dystrophy. Publication Status: Online-Only REFERENCE 6 (bases 1 to 5741) 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 5741) 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 5741) 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 5741) 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 5741) 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 DN991561.1, AK295789.1 and AC068506.10. 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 (16) lacks multiple exons from the 5' end, contains an alternate 5' exon, and differs in the CDS compared to variant 1. The resulting isoform (16) has a much shorter N-terminus and lacks two internal segments, 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 :: AK295789.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-109 DN991561.1 8-116 110-1735 AK295789.1 1-1626 1736-5741 AC068506.10 48019-52024 c FEATURES Location/Qualifiers source 1..5741 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q12" gene 1..5741 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="dystrobrevin, alpha" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="MIM:601239" exon 1..365 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 7 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111611922" variation 84 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:139673882" variation 205 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:116132890" variation 216 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:181193302" variation 229..230 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="c" /db_xref="dbSNP:34399788" misc_feature 318..320 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="upstream in-frame stop codon" variation 359 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:185407416" exon 366..490 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 393 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199983981" variation 422 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:114170541" variation 433 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138085660" CDS 444..1631 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="isoform 16 is encoded by transcript variant 16; dystrophin-related protein 3" /codon_start=1 /product="dystrobrevin alpha isoform 16" /protein_id="NP_001185873.1" /db_xref="GI:312147282" /db_xref="CCDS:CCDS56063.1" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="MIM:601239" /translation="
MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRLPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG
" misc_feature <825..1037 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Seryl-tRNA synthetase N-terminal domain; Region: Seryl_tRNA_N; pfam02403" /db_xref="CDD:202232" variation 444 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141981161" variation 458 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201472116" variation 467 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200830541" variation 488 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:61737438" variation 489 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:148123045" exon 491..574 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" STS 510..726 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="D6S1400E" /db_xref="UniSTS:147378" variation 513 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374704854" variation 519 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374347283" exon 575..664 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 663 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:80152252" exon 665..752 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 673 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374916548" variation 722 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144776465" variation 742 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147541731" variation 749 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202088347" exon 753..850 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 756 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:77320474" variation 772 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:190619495" variation 797 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145061501" variation 798 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144880521" exon 851..964 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 884 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149071180" variation 910 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199828427" variation 954 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371363393" exon 965..1061 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 970 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142108185" variation 1038 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376207145" variation 1047 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:370629863" exon 1062..1221 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1082 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:151158035" variation 1084 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200246467" variation 1089 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199645550" variation 1094 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:113072494" variation 1139 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9959365" variation 1156 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145425478" variation 1165 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199556035" variation 1166 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373742103" variation 1167 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:75615735" variation 1184 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199774892" variation 1195 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200805008" variation 1204 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199596768" exon 1222..1311 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1236 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:372620035" variation 1254 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:191002814" variation 1282 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376597436" variation 1289 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:199855849" exon 1312..1480 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1357 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:138143719" variation 1381 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201829681" variation 1386 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376851710" variation 1412 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:369914309" variation 1426 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142009291" variation 1435 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150410546" variation 1440 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:138145650" variation 1470 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:368868084" variation 1471 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:111587625" exon 1481..1613 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1486 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200977103" variation 1487 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374444921" variation 1496 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:145486636" variation 1525 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:113556738" variation 1546 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:371303988" variation 1601 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:187028045" exon 1614..1662 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" exon 1663..5741 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1804 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:146475795" variation 1840 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:116400062" variation 1861 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:57165372" variation 1865 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:16966155" variation 1942 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111248054" variation 1960 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139929781" variation 1992 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:181083183" variation 2045 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:9950418" variation 2122 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:149598633" variation 2144 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:186132677" variation 2177 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:200940754" variation 2255 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:190607495" variation 2333 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:182840042" variation 2502 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:187385677" variation 2529 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:149726324" variation 2556 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201835977" variation 2580 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:111319152" variation 2632 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145238763" variation 2668 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:372818476" variation 2672 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373595039" variation 3026..3027 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:200402891" variation 3033..3034 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:35125248" STS 3036..3300 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="WI-21186" /db_xref="UniSTS:13566" variation 3093 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:367771488" variation 3138 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:143236354" STS 3159..3361 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH81068" /db_xref="UniSTS:84148" variation 3182 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:151249058" variation 3193 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141815886" variation 3205 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:3133" variation 3222 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:192226645" variation 3271 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:76507055" variation 3299 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376804490" variation 3356 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:147118542" variation 3380 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:183137910" variation 3413..3414 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:34117234" variation 3431 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:187414791" variation 3510 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138455778" variation 3548 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:191833021" variation 3569 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:16966160" variation 3671 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:143972699" variation 3777 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:182528646" variation 3903 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:10502637" variation 3935 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:187877718" variation 3978 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:150254745" variation 4059 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:138447301" variation 4060 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:72962231" variation 4113 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:192501097" variation 4154 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:114631141" variation 4224 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9944927" variation 4392 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:7227051" variation 4500 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:184426501" variation 4526 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:190514847" variation 4617 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:112055845" STS 4697..4856 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="A006B16" /db_xref="UniSTS:3979" STS 4697..4856 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="G20674" /db_xref="UniSTS:3978" variation 4706 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149271384" STS 4809..4958 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="WI-14278" /db_xref="UniSTS:60009" variation 4872 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:73418686" variation 5008 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:192402506" variation 5055 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:996755" variation 5141 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:674338" variation 5164..5165 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="tg" /db_xref="dbSNP:34383224" variation 5165 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:201691364" variation 5175..5176 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:5823957" variation 5187..5188 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:3081492" variation 5188..5189 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /replace="gtgt" /db_xref="dbSNP:200330341" STS 5332..5460 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH98997" /db_xref="UniSTS:86943" variation 5349 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139109039" STS 5388..5672 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="SGC38125" /db_xref="UniSTS:53214" variation 5462 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:375929758" variation 5508 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:10153380" variation 5562 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376796429" variation 5573 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:142635681" polyA_signal 5723..5728 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" variation 5730 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:372697531" polyA_site 5741 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" ORIGIN
ggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatgggtaaggcaaggtccaggcaatacttggagttggatgtgtgagtgttgcccagagttaaagggaatatcaaggatggtggcagaattaaagggcaaacttaccttccatcccaggtctagtattcagtcccccttcctcccactctccaccctactgcgtgctcttacttattctgttggaacccagtgtagcttcctgagatttaaaatataggaagactcaaaactatgttacttcttggaatatagataattcagtactgatttaaataacaactgaatagcaaggaccttctggaacataatcttacattcacaaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggaggttacctgagggaataagtgcatccagccctgtggctgaagagcattccctcataaagctgtacgtaaatcagcttgatcacggtgcacgcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctctccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcgtcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagatgtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggctgcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttgggagtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgttccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtacattcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagatccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaatgagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagcttgcaaggttgaatgcaatatccttttatcacactcctctcaagcaagctatagtcagacagatgatgaaagtaacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcagcctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccccacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgtagtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttatcagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctgaaaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcacatgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagtttgatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttcacagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttcctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgtagttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattctttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccatagaatttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaaattatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgttttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacggactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagcatgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcagctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatgttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaaggagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaaaagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctctttagagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctacttgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaattagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaacaatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtcttcgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgggtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgagaactactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataagcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacccacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccctctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttggctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtgagaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgacaaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttctttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttccactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcctcatactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatcatagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgactggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagatttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactccatcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgccaatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcactgagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttggggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctgttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttgcgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgatagcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatggaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtcaggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaatgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaactgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgcatgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctttgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacctttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactccactgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaagtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttgacaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattgtaaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtgtgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaactatttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaaaaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgtggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattgatggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatggtttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgctatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaacatatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattctttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttgttgaattactgaataaatgaattagtggtg
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1837 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:1837 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:1837 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:1837 -> Biological process: GO:0006941 [striated muscle contraction] evidence: TAS GeneID:1837 -> Biological process: GO:0007165 [signal transduction] evidence: TAS GeneID:1837 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS GeneID:1837 -> Biological process: GO:0007274 [neuromuscular synaptic transmission] evidence: TAS GeneID:1837 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA GeneID:1837 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA GeneID:1837 -> Cellular component: GO:0030054 [cell junction] evidence: IEA GeneID:1837 -> Cellular component: GO:0043234 [protein complex] evidence: IDA GeneID:1837 -> Cellular component: GO:0045202 [synapse] evidence: IEA
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