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2025-05-09 17:31:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001198945 3974 bp mRNA linear PRI 01-MAY-2013
DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 17,
mRNA.
ACCESSION NM_001198945
VERSION NM_001198945.1 GI:312147285
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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 3974)
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, AK294746.1,
AC068506.10 and R45531.1.
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 (17) lacks multiple exons in the
middle region and from the 3' end, and contains an alternate 3'
exon compared to variant 1. The resulting isoform (17) lacks a
large internal segment and has a shorter and distinct C-terminus,
as compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on 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 :: AK294746.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025083 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-14 DA073612.1 1-14
15-1522 AK294746.1 1-1508
1523-3770 AC068506.10 71246-73493 c
3771-3974 R45531.1 1-204 c
FEATURES Location/Qualifiers
source 1..3974
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q12"
gene 1..3974
/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..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..1314
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="isoform 17 is encoded by transcript variant 17;
dystrophin-related protein 3"
/codon_start=1
/product="dystrobrevin alpha isoform 17"
/protein_id="NP_001185874.1"
/db_xref="GI:312147286"
/db_xref="CCDS:CCDS59313.1"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="MIM:601239"
/translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS
"
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..>948
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
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..1052
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 958
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77320474"
variation 974
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:190619495"
variation 999
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061501"
variation 1000
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144880521"
exon 1053..1166
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1086
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149071180"
variation 1112
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199828427"
variation 1156
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371363393"
exon 1167..1263
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1172
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142108185"
variation 1240
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376207145"
variation 1249
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370629863"
exon 1264..3965
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1321
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201502860"
variation 1335
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201973957"
variation 1336
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374013340"
variation 1339
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200632760"
variation 1343
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187308097"
variation 1364
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:370551009"
variation 1389
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191713661"
variation 1486
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:507645"
variation 1487
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112639757"
variation 1488
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:582352"
variation 1528
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:184443681"
variation 1624
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:506619"
variation 1780
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140811874"
variation 1826
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:114527015"
variation 1831
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188534215"
variation 1851
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1048106"
variation 1852
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048107"
variation 1876
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:16966107"
STS 1900..2024
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH12493"
/db_xref="UniSTS:89864"
variation 2095
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144656869"
variation 2096
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374561605"
STS 2123..2297
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH78470"
/db_xref="UniSTS:75515"
variation 2133
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200490886"
variation 2134
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:11287036"
variation 2144
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201233097"
variation 2219
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:189321935"
STS 2304..2443
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="HSC03H042"
/db_xref="UniSTS:10976"
variation 2314
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377416046"
variation 2320
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193107858"
variation 2412
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:185505712"
variation 2554
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190377237"
variation 2577
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:181666942"
variation 2931
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142960774"
variation 3006
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185801837"
variation 3033
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188656537"
variation 3034
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74443670"
variation 3040
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151110663"
variation 3070
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7236860"
variation 3091
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141463558"
variation 3196
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:71363471"
variation 3309
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34776092"
variation 3334
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143789015"
variation 3367
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:181092486"
variation 3440
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:611603"
variation 3445
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117671748"
variation 3540
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146862556"
variation 3662
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140264339"
variation 3693
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367960043"
STS 3711..3867
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH66177"
/db_xref="UniSTS:53884"
variation 3727
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371645269"
STS 3755..3918
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH26327"
/db_xref="UniSTS:86395"
variation 3763
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186007310"
variation 3789
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112386664"
polyA_signal 3939..3944
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
polyA_site 3965
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
ORIGIN
aggatgagatcatagtttcaggatcctcaggaaaccctggtactggcagcagccagcctctgctgtgcccacatgacccacaactctggcagcggacccggcacttccaacattattaaataataagaaagcggctcctactccaggctcaaacctccctgcagaccaatggacaccttctaagagtttggcgagtcagtgactgaagcgcccgtccattccaagataaataggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgccatttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaaggaagaagaactgaagcagggagtaagttatgtcccctactgcaggtcttaactaacagtggaggggcctgccgacctgcggttttctcattgcttttgctctaatgtatgttcatgcttcagtttggaaagagaaaaaagtcatactaatttgcttctttttcaatgtagtgcttgaattgagatatataaatttagcattttttataactatcactactatccacatcaaaagaagaactatgacatcttttagaaaagggaacgaattgtcatttattggaaacattttagatccccagaggtataagtttcaaaccagtcttagcttttcaagttgttgatcagacccttctcttaacagagagataccacagtcactagagataccctgaggttcatgtcatcccaaaacccacagcactcagaagctaacctctacacccactcacactgtgagtattcagttcggtttcattttactgaaaacctgtgaaacctctttttataaaaatcaggcaattaaatcccttttcatcacacaattattgagccttgttccccatggctcaccaaaatgtgctcaattttgtgagagaaagactgtactccataactgactattcacgtcccatctttttggctcttccccaaagcagaatccttactgttggttgacagtaatctctttttaaaaagtaactctcagctttttccttagcaccagagcctttcggctccgggagacgagagggtcattacatacttttttttttttctggaaataggggcattgtgactttatagcctaaactggagctgtctgaacctgtggtcaggctcaagagccagcagggggagcagcaaactcaaaaaaaaaaacaaattaaattaaattaaattaaattaaatagaagcaaaataaaagcagctttaatttcaagtgcatgtaccacgctatgtatgacaatatatcccactcactagcattatttaaaagtttcacattatttccatggatcaattagaaccacaacctgtccaatttcaacgtatctttcatttcttctgtatgctcttttctattattcattatgtgtgtttgtgtgtaacaaagaatgtttggaaaatgctggacacatttttacccttcattcccatggtctgtaaaaaaggaaagtgtaaaatcaatctgtaatgtcagacaataaagataatgtattacattattttgtattttgtgaaaaaaattactttactaaattaaagtcaaattttaacagaagacagtccccctgggtgaaggacacataacacatacagcctgtataattgcccatgaatgcatacatggggtattgctattgtatttccaatacacttagatcatggtaaagaaaaatgccttcttcatgatacttctctgcaaatggcttctttcctctcctgtctcttatttagcatgtgcatagaaaaaggaaataaggttcaattataacctccctcctcctagcagagagagagggcaatcatcctgtcgtcatcagccttgctttagccatttcccttggggatactttccaggccatttcccaggcagcaggatcttgaaaggctcctatggaccaggaagttcgtaaacagatggatgcacagagccaaactgtggcagtgcccccaaggtggcgccactgccccctcaccttccagctcctctccaccaagcccctcagcagcttctgcatctcagggggccaacagcgggtactgcggtgtcggtacccaaggaccagggcccacgtcacccagatgtcagcaatacatcgtctgggtagtggcagagtttgcctatttcacttatttatcttttttgcttttatacacaagcctcttttcaaaaaggacctgaggcagcttacaacaaaagatataaacagtgacttcataaaattgaaatagaaaaatcaaaaactaaagaaaataaaatgtgaatatgctaatcttaagggacaaggatgttactctgcatgttctggcaatgaagcaaaaaaaaaaaaaaaaggaaaattatcggtggttttatcagtacagaaataccacttctcaggggaacaaaatttctgttggcataaaatatgaaagaaagtcttcactgggagctttataggagtactggacgatagaaaaggaaaaaaagcagtcatagatttcatgtggctgtttcttatactgacctcagtcaaaattaaaagcagaaccttatcaatcccagccctatagaggcggttctgcaaggaaataaacaaatgctgtccaaatatagacttctcatggtaaaacatgatctaaggagagaatttagaggttttagactggcatctgcttctaaattctgtttttatttatgagtgtttctcccctttggggacattgtctttgtaaaaccaaacttagaacacccccacacaacaaattgtgctggatttaataacctctacttgctttatcataagtctgtgtggttcaatgtagtgttttattatactggcatatataatttctacttacattgtttcttgttagaggtaatgcatgaatttatccctctcgaggagagaacatgaattaaaaaaaatagtgcctgtaatataatgtgatgattatgatatcacaagcaataaatttttttttacaaaacttgaaaaaaaaaaa
//
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
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