2024-03-28 22:43:07, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032980 5689 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 6, mRNA. ACCESSION NM_032980 VERSION NM_032980.3 GI:189571590 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 5689) 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 DC327958.1, U46746.1, AB209102.1, AL833285.1, BC033969.1 and BX103860.1. On Jun 10, 2008 this sequence version replaced gi:42718006. 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 (6), also known as epsilon transcript, lacks two in-frame coding exons and multiple exons from the 5' end, and contains an alternate 5' exon, compared to transcript variant 1. This results in an isoform (6) with a much shorter N-terminus and missing 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 :: U46746.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-53 DC327958.1 1-53 54-1004 U46746.1 4-954 1005-2972 AB209102.1 1793-3760 2973-4749 AL833285.1 3788-5564 4750-5229 BC033969.1 215-694 5230-5689 BX103860.1 122-581 FEATURES Location/Qualifiers source 1..5689 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q12" gene 1..5689 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="dystrobrevin, alpha" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="HPRD:03141" /db_xref="MIM:601239" exon 1..310 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 29 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:139673882" variation 150 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:116132890" variation 161 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:181193302" variation 174..175 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="c" /db_xref="dbSNP:34399788" misc_feature 263..265 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="upstream in-frame stop codon" variation 304 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:185407416" exon 311..435 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 338 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199983981" variation 367 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:114170541" variation 378 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138085660" CDS 389..1564 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="isoform 6 is encoded by transcript variant 6; dystrophin-related protein 3" /codon_start=1 /product="dystrobrevin alpha isoform 6" /protein_id="NP_116762.2" /db_xref="GI:42718007" /db_xref="CCDS:CCDS11909.1" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="HPRD:03141" /db_xref="MIM:601239" /translation="
MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSSPPKDSEVEQNKLLARAAPAFLKGKGMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG
" misc_feature 758..>970 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="seryl-tRNA synthetase; Provisional; Region: PRK05431" /db_xref="CDD:180077" variation 389 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141981161" variation 403 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201472116" variation 412 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200830541" variation 433 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:61737438" variation 434 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:148123045" exon 436..519 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" STS 455..659 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="D6S1400E" /db_xref="UniSTS:147378" variation 458 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374704854" variation 464 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374347283" exon 520..597 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 559 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:192673085" exon 598..685 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 606 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374916548" variation 655 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144776465" variation 675 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147541731" variation 682 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202088347" exon 686..783 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 689 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:77320474" variation 705 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:190619495" variation 730 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145061501" variation 731 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144880521" exon 784..897 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 817 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149071180" variation 843 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199828427" variation 887 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371363393" exon 898..994 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 903 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142108185" variation 971 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376207145" variation 980 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:370629863" exon 995..1154 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1015 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:151158035" variation 1017 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200246467" variation 1022 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199645550" variation 1027 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:113072494" variation 1072 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9959365" variation 1089 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145425478" variation 1098 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199556035" variation 1099 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373742103" variation 1100 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:75615735" variation 1117 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199774892" variation 1128 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200805008" variation 1137 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199596768" exon 1155..1244 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1169 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:372620035" variation 1187 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:191002814" variation 1215 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376597436" variation 1222 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:199855849" exon 1245..1413 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1290 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:138143719" variation 1314 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201829681" variation 1319 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376851710" variation 1345 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:369914309" variation 1359 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142009291" variation 1368 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150410546" variation 1373 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:138145650" variation 1403 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:368868084" variation 1404 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:111587625" exon 1414..1546 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1419 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200977103" variation 1420 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374444921" variation 1429 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:145486636" variation 1458 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:113556738" variation 1479 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:371303988" variation 1534 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:187028045" exon 1547..1595 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" exon 1596..5674 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1737 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:146475795" variation 1773 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:116400062" variation 1794 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:57165372" variation 1798 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:16966155" variation 1875 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111248054" variation 1893 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139929781" variation 1925 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:181083183" variation 1978 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:9950418" variation 2055 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:149598633" variation 2077 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:186132677" variation 2110 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:200940754" variation 2188 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:190607495" variation 2266 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:182840042" variation 2435 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:187385677" variation 2462 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:149726324" variation 2489 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201835977" variation 2513 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:111319152" variation 2565 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145238763" variation 2601 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:372818476" variation 2605 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373595039" variation 2959..2960 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:200402891" variation 2966..2967 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:35125248" STS 2969..3233 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="WI-21186" /db_xref="UniSTS:13566" variation 3026 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:367771488" variation 3071 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:143236354" STS 3092..3294 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH81068" /db_xref="UniSTS:84148" variation 3115 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:151249058" variation 3126 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141815886" variation 3138 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:3133" variation 3155 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:192226645" variation 3204 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:76507055" variation 3232 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376804490" variation 3289 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:147118542" variation 3313 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:183137910" variation 3346..3347 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:34117234" variation 3364 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:187414791" variation 3443 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138455778" variation 3481 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:191833021" variation 3502 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:16966160" variation 3604 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:143972699" variation 3710 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:182528646" variation 3836 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:10502637" variation 3868 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:187877718" variation 3911 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:150254745" variation 3992 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:138447301" variation 3993 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:72962231" variation 4046 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:192501097" variation 4087 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:114631141" variation 4157 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9944927" variation 4325 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:7227051" variation 4433 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:184426501" variation 4459 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:190514847" variation 4550 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:112055845" STS 4630..4789 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="A006B16" /db_xref="UniSTS:3979" STS 4630..4789 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="G20674" /db_xref="UniSTS:3978" variation 4639 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149271384" STS 4742..4891 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="WI-14278" /db_xref="UniSTS:60009" variation 4805 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:73418686" variation 4941 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:192402506" variation 4988 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:996755" variation 5074 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:674338" variation 5097..5098 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="tg" /db_xref="dbSNP:34383224" variation 5098 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:201691364" variation 5108..5109 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:5823957" variation 5120..5121 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:3081492" variation 5121..5122 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /replace="gtgt" /db_xref="dbSNP:200330341" STS 5265..5393 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH98997" /db_xref="UniSTS:86943" variation 5282 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139109039" STS 5321..5605 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="SGC38125" /db_xref="UniSTS:53214" variation 5395 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:375929758" variation 5441 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:10153380" variation 5495 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376796429" variation 5506 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:142635681" polyA_signal 5656..5661 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" variation 5663 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:372697531" polyA_site 5674 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" ORIGIN
aaggtccaggcaatacttggagttggatgtgtgagtgttgcccagagttaaagggaatatcaaggatggtggcagaattaaagggcaaacttaccttccatcccaggtctagtattcagtcccccttcctcccactctccaccctactgcgtgctcttacttattctgttggaacccagtgtagcttcctgagatttaaaatataggaagactcaaaactatgttacttcttggaatatagataattcagtactgatttaaataacaactgaatagcaaggaccttctggaacataatcttacattcacaaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagctctcctcccaaggacagtgaagtagagcagaacaaactgctggctagggctgctccagcttttctgaagggcaaaggcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctctccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcgtcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagatgtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggctgcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttgggagtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgttccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtacattcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagatccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaatgagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagcttgcaaggttgaatgcaatatccttttatcacactcctctcaagcaagctatagtcagacagatgatgaaagtaacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcagcctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccccacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgtagtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttatcagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctgaaaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcacatgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagtttgatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttcacagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttcctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgtagttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattctttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccatagaatttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaaattatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgttttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacggactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagcatgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcagctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatgttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaaggagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaaaagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctctttagagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctacttgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaattagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaacaatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtcttcgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgggtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgagaactactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataagcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacccacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccctctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttggctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtgagaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgacaaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttctttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttccactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcctcatactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatcatagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgactggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagatttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactccatcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgccaatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcactgagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttggggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctgttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttgcgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgatagcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatggaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtcaggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaatgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaactgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgcatgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctttgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacctttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactccactgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaagtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttgacaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattgtaaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtgtgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaactatttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaaaaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgtggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattgatggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatggtttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgctatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaacatatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattctttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttgttgaattactgaataaatgaattagtggtgaaaaaaaaaaaaaaa
//
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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