2024-03-29 16:49:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001198938 3941 bp mRNA linear PRI 01-MAY-2013 DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 10, mRNA. ACCESSION NM_001198938 VERSION NM_001198938.1 GI:312147254 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 3941) 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 DA197970.1, AK308410.1, BC005300.1, AB209102.1, CF457303.1, BC033969.1 and BX103860.1. Summary: The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (10) differs in the CDS and 3' UTR compared to variant 1. The resulting isoform (10) is shorter; it lacks two internal segments and has a longer and distinct C-terminus, 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 :: AK308410.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-21 DA197970.1 1-21 22-327 AK308410.1 1-306 328-1432 BC005300.1 288-1392 1433-2319 AK308410.1 1413-2299 2320-2381 AB209102.1 2273-2334 2382-2701 AK308410.1 2362-2681 2702-3227 CF457303.1 239-764 3228-3481 BC033969.1 441-694 3482-3941 BX103860.1 122-581 FEATURES Location/Qualifiers source 1..3941 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q12" gene 1..3941 /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..221 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 115 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:148813783" variation 126 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:143454310" variation 170 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:183120151" exon 222..346 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 222 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:116580692" variation 229 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:78178126" misc_feature 312..314 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="upstream in-frame stop codon" exon 347..414 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" CDS 348..2522 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="isoform 10 is encoded by transcript variant 10; dystrophin-related protein 3" /codon_start=1 /product="dystrobrevin alpha isoform 10" /protein_id="NP_001185867.1" /db_xref="GI:312147255" /db_xref="CCDS:CCDS59312.1" /db_xref="GeneID:1837" /db_xref="HGNC:3057" /db_xref="MIM:601239" /translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQLHVSTETRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF
" misc_feature 387..767 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF hand; Region: efhand_1; pfam09068" /db_xref="CDD:149945" misc_feature 777..1043 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF-hand; Region: efhand_2; pfam09069" /db_xref="CDD:149946" misc_feature 1068..1214 /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(1074..1076,1083..1085,1119..1121,1128..1130, 1146..1148,1155..1157,1185..1187,1197..1199) /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(1074..1076,1083..1085,1146..1148,1155..1157) /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(1077..1079,1110..1112,1116..1118,1134..1136, 1140..1142) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative charged binding surface; other site" /db_xref="CDD:30238" misc_feature order(1113..1115,1158..1160,1203..1205,1212..1214) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="putative hydrophobic binding surface; other site" /db_xref="CDD:30238" misc_feature order(1119..1121,1128..1130,1185..1187,1197..1199) /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="zinc cluster 2 [ion binding]; other site" /db_xref="CDD:30238" misc_feature <1593..1805 /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 354 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200021359" variation 398 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:368000651" exon 415..495 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 439 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202046233" variation 446 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200882383" variation 459 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200256996" variation 473 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376001633" variation 482 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:1071632" exon 496..709 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 521 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145335092" variation 553 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:148805060" variation 557 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:117571555" variation 573 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:113870126" variation 576 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147782267" variation 578 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147759402" variation 590 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:146923532" variation 639 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150961489" variation 642 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200736432" variation 663 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:140768365" variation 700 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:141141892" variation 709 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:104894654" exon 710..795 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 718 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150147476" variation 735 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:375175495" variation 770 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376651004" exon 796..950 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 818..819 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="t" /db_xref="dbSNP:11417127" variation 823 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:147115867" variation 826 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201550119" variation 829 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199960642" variation 844 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376007740" variation 853 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:201674479" variation 854 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:367763240" variation 884 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:11877640" variation 886 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:1048081" variation 899 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201461820" variation 900 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200306991" exon 951..1056 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 961 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:201071018" variation 1004 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:140446215" variation 1022 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376519672" exon 1057..1223 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1131 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:369043538" variation 1166 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199617326" variation 1171 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373047659" variation 1182 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:111611922" exon 1224..1348 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1251 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199983981" variation 1280 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:114170541" variation 1291 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:138085660" variation 1302 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:141981161" variation 1316 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201472116" variation 1325 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200830541" variation 1346 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:61737438" variation 1347 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:148123045" exon 1349..1432 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" STS 1368..1494 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="D6S1400E" /db_xref="UniSTS:147378" variation 1371 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374704854" variation 1377 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374347283" exon 1433..1520 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1441 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374916548" variation 1490 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144776465" variation 1510 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:147541731" variation 1517 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:202088347" exon 1521..1618 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1524 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:77320474" variation 1540 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:190619495" variation 1565 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145061501" variation 1566 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:144880521" exon 1619..1732 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1652 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149071180" variation 1678 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199828427" variation 1722 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:371363393" exon 1733..1829 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1738 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142108185" variation 1806 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:376207145" variation 1815 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:370629863" exon 1830..1989 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 1850 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:151158035" variation 1852 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200246467" variation 1857 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199645550" variation 1862 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:113072494" variation 1907 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9959365" variation 1924 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:145425478" variation 1933 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:199556035" variation 1934 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:373742103" variation 1935 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:75615735" variation 1952 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199774892" variation 1963 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:200805008" variation 1972 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:199596768" exon 1990..2079 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 2004 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:372620035" variation 2022 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:191002814" variation 2050 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376597436" variation 2057 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:199855849" exon 2080..2248 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 2125 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:138143719" variation 2149 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:201829681" variation 2154 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376851710" variation 2180 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:369914309" variation 2194 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:142009291" variation 2203 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:150410546" variation 2208 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:138145650" variation 2238 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:368868084" variation 2239 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:111587625" exon 2249..2381 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 2254 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:200977103" variation 2255 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:374444921" variation 2264 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="c" /db_xref="dbSNP:145486636" variation 2293 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:113556738" variation 2314 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:371303988" variation 2369 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:187028045" exon 2382..3926 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /inference="alignment:Splign:1.39.8" variation 2409 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:9944927" variation 2577 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:7227051" variation 2685 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:184426501" variation 2711 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:190514847" variation 2802 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:112055845" STS 2882..3041 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="A006B16" /db_xref="UniSTS:3979" STS 2882..3041 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="G20674" /db_xref="UniSTS:3978" variation 2891 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:149271384" STS 2994..3143 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="WI-14278" /db_xref="UniSTS:60009" variation 3057 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:73418686" variation 3193 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:192402506" variation 3240 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="g" /db_xref="dbSNP:996755" variation 3326 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:674338" variation 3349..3350 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="tg" /db_xref="dbSNP:34383224" variation 3350 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:201691364" variation 3360..3361 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:5823957" variation 3372..3373 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /db_xref="dbSNP:3081492" variation 3373..3374 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="" /replace="gt" /replace="gtgt" /db_xref="dbSNP:200330341" STS 3517..3645 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="RH98997" /db_xref="UniSTS:86943" variation 3534 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:139109039" STS 3573..3857 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /standard_name="SGC38125" /db_xref="UniSTS:53214" variation 3647 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="g" /db_xref="dbSNP:375929758" variation 3693 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:10153380" variation 3747 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="c" /replace="t" /db_xref="dbSNP:376796429" variation 3758 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="a" /replace="t" /db_xref="dbSNP:142635681" polyA_signal 3908..3913 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" variation 3915 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="g" /replace="t" /db_xref="dbSNP:372697531" polyA_site 3926 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" ORIGIN
attttcaagttaaagatagacacagtacacaccaggatctagaggctggatttcatactcatagctctccctagaatttcagagagttctgttatgatctctgttgtaattaccaatttggttcaagtttgttctttaaatgaatatgcttagaattcacatatgttctggatgtactggaattaaaaggatttaagagatcatggtgtgcatgttctaggataaataggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgccatttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctctccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcgtcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagatgtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggctgcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttgggagtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgttccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtacattcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagatccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaatgagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcagctccacgtcagcactgagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttggggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctgttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttgcgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgatagcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatggaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtcaggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaatgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaactgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgcatgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctttgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacctttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactccactgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaagtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttgacaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattgtaaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtgtgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaactatttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaaaaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgtggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattgatggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatggtttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgctatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaacatatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattctttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttgttgaattactgaataaatgaattagtggtgaaaaaaaaaaaaaaa
//
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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