Home |
Help |
Advanced search
2024-04-19 13:58:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032981 3627 bp mRNA linear PRI 01-MAY-2013
DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 8,
mRNA.
ACCESSION NM_032981
VERSION NM_032981.4 GI:190684688
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
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 3627)
AUTHORS Khurana,T.S., Engle,E.C., Bennett,R.R., Silverman,G.A., Selig,S.,
Bruns,G.A. and Kunkel,L.M.
TITLE (CA) repeat polymorphism in the chromosome 18 encoded
dystrophin-like protein
JOURNAL Hum. Mol. Genet. 3 (5), 841 (1994)
PUBMED 8081380
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC327958.1, U26743.1,
AI670964.1, AC068506.10 and R45531.1.
On Jun 19, 2008 this sequence version replaced gi:189571592.
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 (8), also known as zeta
transcript, lacks multiple exons from the 5' and 3' ends as well as
few internal exons, and contains alternate 5' and 3' exons,
compared to transcript variant 1. This results in a shorter isoform
(8) with distinct N- and C-termini and lacking two internal
segments, 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##
Transcript exon combination :: U26743.1, BX419293.2 [ECO:0000332]
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
1-54 DC327958.1 1-54
55-1786 U26743.1 2-1733
1787-2211 AI670964.1 93-517
2212-3423 AC068506.10 71246-72457 c
3424-3627 R45531.1 1-204 c
FEATURES Location/Qualifiers
source 1..3627
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q12"
gene 1..3627
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="dystrobrevin, alpha"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="HPRD:03141"
/db_xref="MIM:601239"
exon 1..310
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 29
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:139673882"
variation 150
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:116132890"
variation 161
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:181193302"
variation 174..175
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="c"
/db_xref="dbSNP:34399788"
misc_feature 263..265
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="upstream in-frame stop codon"
variation 304
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:185407416"
exon 311..435
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 338
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199983981"
variation 367
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114170541"
variation 378
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138085660"
CDS 389..967
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="isoform 8 is encoded by transcript variant 8;
dystrophin-related protein 3"
/codon_start=1
/product="dystrobrevin alpha isoform 8"
/protein_id="NP_116763.1"
/db_xref="GI:14916515"
/db_xref="CCDS:CCDS59314.1"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="HPRD:03141"
/db_xref="MIM:601239"
/translation="
MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS
"
misc_feature 680..>883
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="seryl-tRNA synthetase; Provisional; Region:
PRK05431"
/db_xref="CDD:180077"
variation 389
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141981161"
variation 403
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201472116"
variation 412
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200830541"
variation 433
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61737438"
variation 434
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148123045"
exon 436..519
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
STS 455..581
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="D6S1400E"
/db_xref="UniSTS:147378"
variation 458
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374704854"
variation 464
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374347283"
exon 520..607
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 528
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374916548"
variation 577
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144776465"
variation 597
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147541731"
variation 604
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202088347"
exon 608..705
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 611
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77320474"
variation 627
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:190619495"
variation 652
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061501"
variation 653
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144880521"
exon 706..819
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 739
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149071180"
variation 765
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199828427"
variation 809
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371363393"
exon 820..916
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 825
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142108185"
variation 893
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376207145"
variation 902
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370629863"
exon 917..3618
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 974
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201502860"
variation 988
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201973957"
variation 989
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374013340"
variation 992
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200632760"
variation 996
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187308097"
variation 1017
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:370551009"
variation 1042
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191713661"
variation 1139
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:507645"
variation 1140
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112639757"
variation 1141
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:582352"
variation 1181
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:184443681"
variation 1277
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:506619"
variation 1433
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140811874"
variation 1479
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:114527015"
variation 1484
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188534215"
variation 1504
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1048106"
variation 1505
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048107"
variation 1529
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:16966107"
STS 1553..1677
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH12493"
/db_xref="UniSTS:89864"
variation 1748
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144656869"
variation 1749
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374561605"
STS 1776..1950
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH78470"
/db_xref="UniSTS:75515"
variation 1786
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200490886"
variation 1787
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:11287036"
variation 1797
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201233097"
variation 1872
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:189321935"
STS 1957..2096
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="HSC03H042"
/db_xref="UniSTS:10976"
variation 1967
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377416046"
variation 1973
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193107858"
variation 2065
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:185505712"
polyA_signal 2122..2127
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
polyA_site 2144
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
variation 2207
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190377237"
variation 2230
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:181666942"
variation 2584
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142960774"
variation 2659
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185801837"
variation 2686
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188656537"
variation 2687
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74443670"
variation 2693
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151110663"
variation 2723
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7236860"
variation 2744
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141463558"
variation 2849
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:71363471"
variation 2962
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34776092"
variation 2987
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143789015"
variation 3020
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:181092486"
variation 3093
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:611603"
variation 3098
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117671748"
variation 3193
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146862556"
variation 3315
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140264339"
variation 3346
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367960043"
STS 3364..3520
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH66177"
/db_xref="UniSTS:53884"
variation 3380
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371645269"
STS 3408..3571
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH26327"
/db_xref="UniSTS:86395"
variation 3416
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186007310"
variation 3442
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112386664"
polyA_signal 3592..3597
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
polyA_site 3618
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
ORIGIN
aaggtccaggcaatacttggagttggatgtgtgagtgttgcccagagttaaagggaatatcaaggatggtggcagaattaaagggcaaacttaccttccatcccaggtctagtattcagtcccccttcctcccactctccaccctactgcgtgctcttacttattctgttggaacccagtgtagcttcctgagatttaaaatataggaagactcaaaactatgttacttcttggaatatagataattcagtactgatttaaataacaactgaatagcaaggaccttctggaacataatcttacattcacaaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaaggaagaagaactgaagcagggagtaagttatgtcccctactgcaggtcttaactaacagtggaggggcctgccgacctgcggttttctcattgcttttgctctaatgtatgttcatgcttcagtttggaaagagaaaaaagtcatactaatttgcttctttttcaatgtagtgcttgaattgagatatataaatttagcattttttataactatcactactatccacatcaaaagaagaactatgacatcttttagaaaagggaacgaattgtcatttattggaaacattttagatccccagaggtataagtttcaaaccagtcttagcttttcaagttgttgatcagacccttctcttaacagagagataccacagtcactagagataccctgaggttcatgtcatcccaaaacccacagcactcagaagctaacctctacacccactcacactgtgagtattcagttcggtttcattttactgaaaacctgtgaaacctctttttataaaaatcaggcaattaaatcccttttcatcacacaattattgagccttgttccccatggctcaccaaaatgtgctcaattttgtgagagaaagactgtactccataactgactattcacgtcccatctttttggctcttccccaaagcagaatccttactgttggttgacagtaatctctttttaaaaagtaactctcagctttttccttagcaccagagcctttcggctccgggagacgagagggtcattacatacttttttttttttctggaaataggggcattgtgactttatagcctaaactggagctgtctgaacctgtggtcaggctcaagagccagcagggggagcagcaaactcaaaaaaaaaaacaaattaaattaaattaaattaaattaaatagaagcaaaataaaagcagctttaatttcaagtgcatgtaccacgctatgtatgacaatatatcccactcactagcattatttaaaagtttcacattatttccatggatcaattagaaccacaacctgtccaatttcaacgtatctttcatttcttctgtatgctcttttctattattcattatgtgtgtttgtgtgtaacaaagaatgtttggaaaatgctggacacatttttacccttcattcccatggtctgtaaaaaaggaaagtgtaaaatcaatctgtaatgtcagacaataaagataatgtattacattattttgtattttgtgaaaaaaattactttactaaattaaagtcaaattttaacagaagacagtccccctgggtgaaggacacataacacatacagcctgtataattgcccatgaatgcatacatggggtattgctattgtatttccaatacacttagatcatggtaaagaaaaatgccttcttcatgatacttctctgcaaatggcttctttcctctcctgtctcttatttagcatgtgcatagaaaaaggaaataaggttcaattataacctccctcctcctagcagagagagagggcaatcatcctgtcgtcatcagccttgctttagccatttcccttggggatactttccaggccatttcccaggcagcaggatcttgaaaggctcctatggaccaggaagttcgtaaacagatggatgcacagagccaaactgtggcagtgcccccaaggtggcgccactgccccctcaccttccagctcctctccaccaagcccctcagcagcttctgcatctcagggggccaacagcgggtactgcggtgtcggtacccaaggaccagggcccacgtcacccagatgtcagcaatacatcgtctgggtagtggcagagtttgcctatttcacttatttatcttttttgcttttatacacaagcctcttttcaaaaaggacctgaggcagcttacaacaaaagatataaacagtgacttcataaaattgaaatagaaaaatcaaaaactaaagaaaataaaatgtgaatatgctaatcttaagggacaaggatgttactctgcatgttctggcaatgaagcaaaaaaaaaaaaaaaaggaaaattatcggtggttttatcagtacagaaataccacttctcaggggaacaaaatttctgttggcataaaatatgaaagaaagtcttcactgggagctttataggagtactggacgatagaaaaggaaaaaaagcagtcatagatttcatgtggctgtttcttatactgacctcagtcaaaattaaaagcagaaccttatcaatcccagccctatagaggcggttctgcaaggaaataaacaaatgctgtccaaatatagacttctcatggtaaaacatgatctaaggagagaatttagaggttttagactggcatctgcttctaaattctgtttttatttatgagtgtttctcccctttggggacattgtctttgtaaaaccaaacttagaacacccccacacaacaaattgtgctggatttaataacctctacttgctttatcataagtctgtgtggttcaatgtagtgttttattatactggcatatataatttctacttacattgtttcttgttagaggtaatgcatgaatttatccctctcgaggagagaacatgaattaaaaaaaatagtgcctgtaatataatgtgatgattatgatatcacaagcaataaatttttttttacaaaacttgaaaaaaaaaaa
//
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
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.