2025-05-09 17:11:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001391 4374 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 3, mRNA. ACCESSION NM_001391 VERSION NM_001391.5 GI:190684687 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 4374) 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 BC005300.1, U26742.1, U46745.1, U26743.1, AI670964.1, AC068506.10 and R45531.1. On Jun 19, 2008 this sequence version replaced gi:189571585. 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 (3), also known as DTN2, lacks multiple exons from the 3' end and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (3) with a distinct C-terminus compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by 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## 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 1-1002 BC005300.1 307-1308 1003-1095 U26742.1 1326-1418 1096-1729 U46745.1 1357-1990 1730-2533 U26743.1 930-1733 2534-2958 AI670964.1 93-517 2959-4170 AC068506.10 71246-72457 c 4171-4374 R45531.1 1-204 c FEATURES Location/Qualifiers source 1..4374 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q12" gene 1..4374 /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..68 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" CDS 2..1714 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="isoform 3 is encoded by transcript variant 3; dystrophin-related protein 3" /codon_start=1 /product="dystrobrevin alpha isoform 3" /protein_id="NP_001382.2" /db_xref="GI:42718003" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="HPRD:03141" /db_xref="MIM:601239" /translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRSSPPKDSEVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS
" misc_feature 2..865 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y4J8.2); Region: Interaction with MAGEE1 (By similarity)" misc_feature 41..421 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF hand; Region: efhand_1; pfam09068" /db_xref="CDD:149945" misc_feature 431..697 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF-hand; Region: efhand_2; pfam09069" /db_xref="CDD:149946" misc_feature 722..868 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane...; Region: ZZ_dystrophin; cd02334" /db_xref="CDD:30238" misc_feature order(728..730,737..739,773..775,782..784,800..802, 809..811,839..841,851..853) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="Zinc-binding sites [ion binding]; other site" /db_xref="CDD:30238" misc_feature order(728..730,737..739,800..802,809..811) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="zinc cluster 1 [ion binding]; other site" /db_xref="CDD:30238" misc_feature order(731..733,764..766,770..772,788..790,794..796) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative charged binding surface; other site" /db_xref="CDD:30238" misc_feature order(767..769,812..814,857..859,866..868) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative hydrophobic binding surface; other site" /db_xref="CDD:30238" misc_feature order(773..775,782..784,839..841,851..853) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="zinc cluster 2 [ion binding]; other site" /db_xref="CDD:30238" misc_feature 1199..1351 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y4J8.2); Region: Syntrophin-binding region" misc_feature <1427..1630 /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 8 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200021359" variation 52 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:368000651" exon 69..149 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 93 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202046233" variation 100 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200882383" variation 113 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200256996" variation 127 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376001633" variation 136 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:1071632" exon 150..363 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 175 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145335092" variation 207 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:148805060" variation 211 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:117571555" variation 227 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:113870126" variation 230 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147782267" variation 232 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147759402" variation 244 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:146923532" variation 293 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150961489" variation 296 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200736432" variation 317 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:140768365" variation 354 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:141141892" variation 363 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:104894654" exon 364..449 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 372 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150147476" variation 389 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:375175495" variation 424 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376651004" exon 450..604 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 472..473 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:11417127" variation 477 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147115867" variation 480 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201550119" variation 483 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199960642" variation 498 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376007740" variation 507 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201674479" variation 508 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:367763240" variation 538 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:11877640" variation 540 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:1048081" variation 553 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201461820" variation 554 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200306991" exon 605..710 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 615 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201071018" variation 658 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:140446215" variation 676 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376519672" exon 711..877 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 785 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:369043538" variation 820 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199617326" variation 825 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373047659" variation 836 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111611922" exon 878..1002 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 905 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199983981" variation 934 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:114170541" variation 945 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138085660" variation 956 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141981161" variation 970 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201472116" variation 979 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200830541" variation 1000 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:61737438" variation 1001 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:148123045" exon 1003..1011 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" exon 1012..1095 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" STS 1031..1328 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="D6S1400E" /db_xref="UniSTS:147378" variation 1034 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374704854" variation 1040 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374347283" exon 1096..1173 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1135 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:192673085" exon 1174..1266 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1190 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150679265" variation 1209 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:375890182" variation 1217 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139872140" variation 1228 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:368913791" variation 1229 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373427602" variation 1236 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:186573363" variation 1250 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199867593" variation 1262..1263 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="g" /db_xref="dbSNP:34056668" variation 1265 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:377526715" exon 1267..1354 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1275 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374916548" variation 1324 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144776465" variation 1344 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147541731" variation 1351 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202088347" exon 1355..1452 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1358 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:77320474" variation 1374 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:190619495" variation 1399 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145061501" variation 1400 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144880521" exon 1453..1566 /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="a" /replace="g" /db_xref="dbSNP:149071180" variation 1512 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199828427" variation 1556 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371363393" exon 1567..1663 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1572 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142108185" variation 1640 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376207145" variation 1649 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:370629863" exon 1664..4365 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1721 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201502860" variation 1735 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201973957" variation 1736 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374013340" variation 1739 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200632760" variation 1743 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:187308097" variation 1764 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:370551009" variation 1789 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:191713661" variation 1886 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:507645" variation 1887 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:112639757" variation 1888 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:582352" variation 1928 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:184443681" variation 2024 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:506619" variation 2180 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:140811874" variation 2226 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:114527015" variation 2231 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:188534215" variation 2251 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:1048106" variation 2252 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:1048107" variation 2276 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:16966107" STS 2300..2424 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH12493" /db_xref="UniSTS:89864" variation 2495 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:144656869" variation 2496 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:374561605" STS 2523..2697 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH78470" /db_xref="UniSTS:75515" variation 2533 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200490886" variation 2534 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:11287036" variation 2544 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:201233097" variation 2619 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:189321935" STS 2704..2843 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="HSC03H042" /db_xref="UniSTS:10976" variation 2714 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:377416046" variation 2720 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:193107858" variation 2812 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:185505712" polyA_signal 2869..2874 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" polyA_site 2891 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" variation 2954 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:190377237" variation 2977 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:181666942" variation 3331 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142960774" variation 3406 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:185801837" variation 3433 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:188656537" variation 3434 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:74443670" variation 3440 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:151110663" variation 3470 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:7236860" variation 3491 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:141463558" variation 3596 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:71363471" variation 3709 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="a" /db_xref="dbSNP:34776092" variation 3734 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:143789015" variation 3767 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:181092486" variation 3840 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:611603" variation 3845 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:117671748" variation 3940 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:146862556" variation 4062 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:140264339" variation 4093 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:367960043" STS 4111..4267 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH66177" /db_xref="UniSTS:53884" variation 4127 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371645269" STS 4155..4318 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH26327" /db_xref="UniSTS:86395" variation 4163 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:186007310" variation 4189 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:112386664" polyA_signal 4339..4344 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" polyA_site 4365 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" ORIGIN
aatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgttgatacttggcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagctctcctcccaaggacagtgaagtagagcagaacaaactgctggctagggctgctccagcttttctgaagggcaaagggatacagtacagcctgaatgtggcagacaggctagctgatgaacatgttctcatcgggttgtatgtcaacatgctccggaacaacccctcatgcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaaggaagaagaactgaagcagggagtaagttatgtcccctactgcaggtcttaactaacagtggaggggcctgccgacctgcggttttctcattgcttttgctctaatgtatgttcatgcttcagtttggaaagagaaaaaagtcatactaatttgcttctttttcaatgtagtgcttgaattgagatatataaatttagcattttttataactatcactactatccacatcaaaagaagaactatgacatcttttagaaaagggaacgaattgtcatttattggaaacattttagatccccagaggtataagtttcaaaccagtcttagcttttcaagttgttgatcagacccttctcttaacagagagataccacagtcactagagataccctgaggttcatgtcatcccaaaacccacagcactcagaagctaacctctacacccactcacactgtgagtattcagttcggtttcattttactgaaaacctgtgaaacctctttttataaaaatcaggcaattaaatcccttttcatcacacaattattgagccttgttccccatggctcaccaaaatgtgctcaattttgtgagagaaagactgtactccataactgactattcacgtcccatctttttggctcttccccaaagcagaatccttactgttggttgacagtaatctctttttaaaaagtaactctcagctttttccttagcaccagagcctttcggctccgggagacgagagggtcattacatacttttttttttttctggaaataggggcattgtgactttatagcctaaactggagctgtctgaacctgtggtcaggctcaagagccagcagggggagcagcaaactcaaaaaaaaaaacaaattaaattaaattaaattaaattaaatagaagcaaaataaaagcagctttaatttcaagtgcatgtaccacgctatgtatgacaatatatcccactcactagcattatttaaaagtttcacattatttccatggatcaattagaaccacaacctgtccaatttcaacgtatctttcatttcttctgtatgctcttttctattattcattatgtgtgtttgtgtgtaacaaagaatgtttggaaaatgctggacacatttttacccttcattcccatggtctgtaaaaaaggaaagtgtaaaatcaatctgtaatgtcagacaataaagataatgtattacattattttgtattttgtgaaaaaaattactttactaaattaaagtcaaattttaacagaagacagtccccctgggtgaaggacacataacacatacagcctgtataattgcccatgaatgcatacatggggtattgctattgtatttccaatacacttagatcatggtaaagaaaaatgccttcttcatgatacttctctgcaaatggcttctttcctctcctgtctcttatttagcatgtgcatagaaaaaggaaataaggttcaattataacctccctcctcctagcagagagagagggcaatcatcctgtcgtcatcagccttgctttagccatttcccttggggatactttccaggccatttcccaggcagcaggatcttgaaaggctcctatggaccaggaagttcgtaaacagatggatgcacagagccaaactgtggcagtgcccccaaggtggcgccactgccccctcaccttccagctcctctccaccaagcccctcagcagcttctgcatctcagggggccaacagcgggtactgcggtgtcggtacccaaggaccagggcccacgtcacccagatgtcagcaatacatcgtctgggtagtggcagagtttgcctatttcacttatttatcttttttgcttttatacacaagcctcttttcaaaaaggacctgaggcagcttacaacaaaagatataaacagtgacttcataaaattgaaatagaaaaatcaaaaactaaagaaaataaaatgtgaatatgctaatcttaagggacaaggatgttactctgcatgttctggcaatgaagcaaaaaaaaaaaaaaaaggaaaattatcggtggttttatcagtacagaaataccacttctcaggggaacaaaatttctgttggcataaaatatgaaagaaagtcttcactgggagctttataggagtactggacgatagaaaaggaaaaaaagcagtcatagatttcatgtggctgtttcttatactgacctcagtcaaaattaaaagcagaaccttatcaatcccagccctatagaggcggttctgcaaggaaataaacaaatgctgtccaaatatagacttctcatggtaaaacatgatctaaggagagaatttagaggttttagactggcatctgcttctaaattctgtttttatttatgagtgtttctcccctttggggacattgtctttgtaaaaccaaacttagaacacccccacacaacaaattgtgctggatttaataacctctacttgctttatcataagtctgtgtggttcaatgtagtgttttattatactggcatatataatttctacttacattgtttcttgttagaggtaatgcatgaatttatccctctcgaggagagaacatgaattaaaaaaaatagtgcctgtaatataatgtgatgattatgatatcacaagcaataaatttttttttacaaaacttgaaaaaaaaaaa
//
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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