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2024-04-24 11:17:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032979 4553 bp mRNA linear PRI 01-MAY-2013
DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 5,
mRNA.
ACCESSION NM_032979
VERSION NM_032979.4 GI:190684685
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 4553)
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 DA073612.1, U26742.1, U26743.1,
AI670964.1, AC068506.10 and R45531.1.
On Jun 19, 2008 this sequence version replaced gi:189571588.
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 (5), also known as gamma
transcript, lacks two consecutive in-frame coding exons and
multiple exons from the 3' end, and contains an alternate 3' exon,
compared to transcript variant 1. This results in a shorter isoform
(5) with a distinct C-terminus and missing an internal segment,
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##
CDS exon combination :: U26744.1 [ECO:0000331]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-27 DA073612.1 1-27
28-1445 U26742.1 1-1418
1446-2712 U26743.1 467-1733
2713-3137 AI670964.1 93-517
3138-4349 AC068506.10 71246-72457 c
4350-4553 R45531.1 1-204 c
FEATURES Location/Qualifiers
source 1..4553
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q12"
gene 1..4553
/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..225
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 99
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374580996"
variation 200
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369004840"
exon 226..350
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 226
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:116580692"
variation 233
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78178126"
misc_feature 316..318
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="upstream in-frame stop codon"
exon 351..418
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
CDS 352..1893
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="isoform 5 is encoded by transcript variant 5;
dystrophin-related protein 3"
/codon_start=1
/product="dystrobrevin alpha isoform 5"
/protein_id="NP_116761.2"
/db_xref="GI:42717997"
/db_xref="CCDS:CCDS59309.1"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="HPRD:03141"
/db_xref="MIM:601239"
/translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS
"
misc_feature 391..771
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF hand; Region: efhand_1; pfam09068"
/db_xref="CDD:149945"
misc_feature 781..1047
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
misc_feature 1072..1218
/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(1078..1080,1087..1089,1123..1125,1132..1134,
1150..1152,1159..1161,1189..1191,1201..1203)
/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(1078..1080,1087..1089,1150..1152,1159..1161)
/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(1081..1083,1114..1116,1120..1122,1138..1140,
1144..1146)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative charged binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1117..1119,1162..1164,1207..1209,1216..1218)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative hydrophobic binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1123..1125,1132..1134,1189..1191,1201..1203)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="zinc cluster 2 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature <1606..1809
/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 358
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200021359"
variation 402
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368000651"
exon 419..499
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 443
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202046233"
variation 450
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200882383"
variation 463
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200256996"
variation 477
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376001633"
variation 486
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1071632"
exon 500..713
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 525
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145335092"
variation 557
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148805060"
variation 561
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117571555"
variation 577
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:113870126"
variation 580
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147782267"
variation 582
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147759402"
variation 594
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146923532"
variation 643
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150961489"
variation 646
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200736432"
variation 667
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:140768365"
variation 704
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141141892"
variation 713
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894654"
exon 714..799
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 722
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150147476"
variation 739
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375175495"
variation 774
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376651004"
exon 800..954
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 822..823
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:11417127"
variation 827
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147115867"
variation 830
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201550119"
variation 833
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199960642"
variation 848
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376007740"
variation 857
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201674479"
variation 858
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367763240"
variation 888
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:11877640"
variation 890
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1048081"
variation 903
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201461820"
variation 904
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200306991"
exon 955..1060
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 965
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201071018"
variation 1008
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140446215"
variation 1026
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376519672"
exon 1061..1227
/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="c"
/replace="t"
/db_xref="dbSNP:369043538"
variation 1170
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199617326"
variation 1175
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373047659"
variation 1186
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111611922"
exon 1228..1352
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1255
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199983981"
variation 1284
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114170541"
variation 1295
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138085660"
variation 1306
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141981161"
variation 1320
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201472116"
variation 1329
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200830541"
variation 1350
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61737438"
variation 1351
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148123045"
exon 1353..1361
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
exon 1362..1445
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
STS 1381..1507
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="D6S1400E"
/db_xref="UniSTS:147378"
variation 1384
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374704854"
variation 1390
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374347283"
exon 1446..1533
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1454
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374916548"
variation 1503
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144776465"
variation 1523
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147541731"
variation 1530
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202088347"
exon 1534..1631
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1537
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77320474"
variation 1553
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:190619495"
variation 1578
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061501"
variation 1579
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144880521"
exon 1632..1745
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1665
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149071180"
variation 1691
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199828427"
variation 1735
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371363393"
exon 1746..1842
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1751
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142108185"
variation 1819
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376207145"
variation 1828
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370629863"
exon 1843..4544
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1900
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201502860"
variation 1914
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201973957"
variation 1915
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374013340"
variation 1918
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200632760"
variation 1922
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187308097"
variation 1943
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:370551009"
variation 1968
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191713661"
variation 2065
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:507645"
variation 2066
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112639757"
variation 2067
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:582352"
variation 2107
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:184443681"
variation 2203
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:506619"
variation 2359
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140811874"
variation 2405
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:114527015"
variation 2410
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188534215"
variation 2430
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1048106"
variation 2431
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048107"
variation 2455
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:16966107"
STS 2479..2603
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH12493"
/db_xref="UniSTS:89864"
variation 2674
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144656869"
variation 2675
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374561605"
STS 2702..2876
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH78470"
/db_xref="UniSTS:75515"
variation 2712
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200490886"
variation 2713
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:11287036"
variation 2723
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201233097"
variation 2798
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:189321935"
STS 2883..3022
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="HSC03H042"
/db_xref="UniSTS:10976"
variation 2893
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377416046"
variation 2899
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193107858"
variation 2991
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:185505712"
polyA_signal 3048..3053
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
polyA_site 3070
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
variation 3133
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190377237"
variation 3156
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:181666942"
variation 3510
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142960774"
variation 3585
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185801837"
variation 3612
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188656537"
variation 3613
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74443670"
variation 3619
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151110663"
variation 3649
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7236860"
variation 3670
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141463558"
variation 3775
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:71363471"
variation 3888
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34776092"
variation 3913
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143789015"
variation 3946
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:181092486"
variation 4019
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:611603"
variation 4024
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117671748"
variation 4119
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146862556"
variation 4241
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140264339"
variation 4272
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367960043"
STS 4290..4446
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH66177"
/db_xref="UniSTS:53884"
variation 4306
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371645269"
STS 4334..4497
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH26327"
/db_xref="UniSTS:86395"
variation 4342
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186007310"
variation 4368
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112386664"
polyA_signal 4518..4523
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
polyA_site 4544
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
ORIGIN
aggatgagatcatagtttcaggatcctcaggaaaccctggtactggcagcagccagcctctgctgtgcccacatgacccacaactctggcagcggacccggcacttccaacattattaaataataagaaagcggctcctactccaggctcaaacctccctgcagaccaatggacaccttctaagagtttggcgagtcagtgactgaagcgcccgtccattccaagataaataggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgccatttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgttgatacttggcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaaggaagaagaactgaagcagggagtaagttatgtcccctactgcaggtcttaactaacagtggaggggcctgccgacctgcggttttctcattgcttttgctctaatgtatgttcatgcttcagtttggaaagagaaaaaagtcatactaatttgcttctttttcaatgtagtgcttgaattgagatatataaatttagcattttttataactatcactactatccacatcaaaagaagaactatgacatcttttagaaaagggaacgaattgtcatttattggaaacattttagatccccagaggtataagtttcaaaccagtcttagcttttcaagttgttgatcagacccttctcttaacagagagataccacagtcactagagataccctgaggttcatgtcatcccaaaacccacagcactcagaagctaacctctacacccactcacactgtgagtattcagttcggtttcattttactgaaaacctgtgaaacctctttttataaaaatcaggcaattaaatcccttttcatcacacaattattgagccttgttccccatggctcaccaaaatgtgctcaattttgtgagagaaagactgtactccataactgactattcacgtcccatctttttggctcttccccaaagcagaatccttactgttggttgacagtaatctctttttaaaaagtaactctcagctttttccttagcaccagagcctttcggctccgggagacgagagggtcattacatacttttttttttttctggaaataggggcattgtgactttatagcctaaactggagctgtctgaacctgtggtcaggctcaagagccagcagggggagcagcaaactcaaaaaaaaaaacaaattaaattaaattaaattaaattaaatagaagcaaaataaaagcagctttaatttcaagtgcatgtaccacgctatgtatgacaatatatcccactcactagcattatttaaaagtttcacattatttccatggatcaattagaaccacaacctgtccaatttcaacgtatctttcatttcttctgtatgctcttttctattattcattatgtgtgtttgtgtgtaacaaagaatgtttggaaaatgctggacacatttttacccttcattcccatggtctgtaaaaaaggaaagtgtaaaatcaatctgtaatgtcagacaataaagataatgtattacattattttgtattttgtgaaaaaaattactttactaaattaaagtcaaattttaacagaagacagtccccctgggtgaaggacacataacacatacagcctgtataattgcccatgaatgcatacatggggtattgctattgtatttccaatacacttagatcatggtaaagaaaaatgccttcttcatgatacttctctgcaaatggcttctttcctctcctgtctcttatttagcatgtgcatagaaaaaggaaataaggttcaattataacctccctcctcctagcagagagagagggcaatcatcctgtcgtcatcagccttgctttagccatttcccttggggatactttccaggccatttcccaggcagcaggatcttgaaaggctcctatggaccaggaagttcgtaaacagatggatgcacagagccaaactgtggcagtgcccccaaggtggcgccactgccccctcaccttccagctcctctccaccaagcccctcagcagcttctgcatctcagggggccaacagcgggtactgcggtgtcggtacccaaggaccagggcccacgtcacccagatgtcagcaatacatcgtctgggtagtggcagagtttgcctatttcacttatttatcttttttgcttttatacacaagcctcttttcaaaaaggacctgaggcagcttacaacaaaagatataaacagtgacttcataaaattgaaatagaaaaatcaaaaactaaagaaaataaaatgtgaatatgctaatcttaagggacaaggatgttactctgcatgttctggcaatgaagcaaaaaaaaaaaaaaaaggaaaattatcggtggttttatcagtacagaaataccacttctcaggggaacaaaatttctgttggcataaaatatgaaagaaagtcttcactgggagctttataggagtactggacgatagaaaaggaaaaaaagcagtcatagatttcatgtggctgtttcttatactgacctcagtcaaaattaaaagcagaaccttatcaatcccagccctatagaggcggttctgcaaggaaataaacaaatgctgtccaaatatagacttctcatggtaaaacatgatctaaggagagaatttagaggttttagactggcatctgcttctaaattctgtttttatttatgagtgtttctcccctttggggacattgtctttgtaaaaccaaacttagaacacccccacacaacaaattgtgctggatttaataacctctacttgctttatcataagtctgtgtggttcaatgtagtgttttattatactggcatatataatttctacttacattgtttcttgttagaggtaatgcatgaatttatccctctcgaggagagaacatgaattaaaaaaaatagtgcctgtaatataatgtgatgattatgatatcacaagcaataaatttttttttacaaaacttgaaaaaaaaaaa
//
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
by
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DBCLS
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