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2024-04-26 04:30:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199954 2123 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.
ACCESSION NM_001199954
VERSION NM_001199954.1 GI:316659408
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 2123)
AUTHORS Baranwal,S., Naydenov,N.G., Harris,G., Dugina,V., Morgan,K.G.,
Chaponnier,C. and Ivanov,A.I.
TITLE Nonredundant roles of cytoplasmic beta- and gamma-actin isoforms in
regulation of epithelial apical junctions
JOURNAL Mol. Biol. Cell 23 (18), 3542-3553 (2012)
PUBMED 22855531
REMARK GeneRIF: Data indicate beta-cytoplasmic (beta-CYA) and
gamma-cytoplasmic (gamma-CYA) actins differential localization and
dynamics at epithelial junctions.
REFERENCE 2 (bases 1 to 2123)
AUTHORS Xiang,Y., Zheng,K., Ju,H., Wang,S., Pei,Y., Ding,W., Chen,Z.,
Wang,Q., Qiu,X., Zhong,M., Zeng,F., Ren,Z., Qian,C., Liu,G.,
Kitazato,K. and Wang,Y.
TITLE Cofilin 1-mediated biphasic F-actin dynamics of neuronal cells
affect herpes simplex virus 1 infection and replication
JOURNAL J. Virol. 86 (16), 8440-8451 (2012)
PUBMED 22623803
REMARK GeneRIF: These results showed the biphasic F-actin dynamics in
herpes simplex virus 1 neuronal infection and confirmed the
association of F-actin with the changes in the expression and
activity of cofilin 1.
REFERENCE 3 (bases 1 to 2123)
AUTHORS Riviere,J.B., van Bon,B.W., Hoischen,A., Kholmanskikh,S.S.,
O'Roak,B.J., Gilissen,C., Gijsen,S., Sullivan,C.T., Christian,S.L.,
Abdul-Rahman,O.A., Atkin,J.F., Chassaing,N., Drouin-Garraud,V.,
Fry,A.E., Fryns,J.P., Gripp,K.W., Kempers,M., Kleefstra,T.,
Mancini,G.M., Nowaczyk,M.J., van Ravenswaaij-Arts,C.M.,
Roscioli,T., Marble,M., Rosenfeld,J.A., Siu,V.M., de Vries,B.B.,
Shendure,J., Verloes,A., Veltman,J.A., Brunner,H.G., Ross,M.E.,
Pilz,D.T. and Dobyns,W.B.
TITLE De novo mutations in the actin genes ACTB and ACTG1 cause
Baraitser-Winter syndrome
JOURNAL Nat. Genet. 44 (4), 440-444 (2012)
PUBMED 22366783
REMARK GeneRIF: identified de novo missense changes in the cytoplasmic
actin-encoding genes ACTB and ACTG1 in one and two probands,
respectively; suggest that Baraitser-Winter syndrome is the
predominant phenotype associated with mutation of these two genes
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 2123)
AUTHORS Shum,M.S., Pasquier,E., Po'uha,S.T., O'Neill,G.M., Chaponnier,C.,
Gunning,P.W. and Kavallaris,M.
TITLE gamma-Actin regulates cell migration and modulates the ROCK
signaling pathway
JOURNAL FASEB J. 25 (12), 4423-4433 (2011)
PUBMED 21908715
REMARK GeneRIF: knockdown of gamma-actin significantly reduced speed of
motility and severely affected the cell's ability to explore, which
was, in part, due to a loss of cell polarity
REFERENCE 5 (bases 1 to 2123)
AUTHORS Kiuchi,T., Nagai,T., Ohashi,K. and Mizuno,K.
TITLE Measurements of spatiotemporal changes in G-actin concentration
reveal its effect on stimulus-induced actin assembly and
lamellipodium extension
JOURNAL J. Cell Biol. 193 (2), 365-380 (2011)
PUBMED 21502360
REMARK GeneRIF: Cytoplasmic G-actin concentration is a critical parameter
for determining the extent of stimulus-induced G-actin assembly and
cell extension.
REFERENCE 6 (bases 1 to 2123)
AUTHORS Rodriguez Del Castillo,A., Vitale,M.L. and Trifaro,J.M.
TITLE Ca2+ and pH determine the interaction of chromaffin cell scinderin
with phosphatidylserine and phosphatidylinositol 4,5,-biphosphate
and its cellular distribution during nicotinic-receptor stimulation
and protein kinase C activation
JOURNAL J. Cell Biol. 119 (4), 797-810 (1992)
PUBMED 1331119
REFERENCE 7 (bases 1 to 2123)
AUTHORS Dawson,S.J. and White,L.A.
TITLE Treatment of Haemophilus aphrophilus endocarditis with
ciprofloxacin
JOURNAL J. Infect. 24 (3), 317-320 (1992)
PUBMED 1602151
REFERENCE 8 (bases 1 to 2123)
AUTHORS Erba,H.P., Eddy,R., Shows,T., Kedes,L. and Gunning,P.
TITLE Structure, chromosome location, and expression of the human
gamma-actin gene: differential evolution, location, and expression
of the cytoskeletal beta- and gamma-actin genes
JOURNAL Mol. Cell. Biol. 8 (4), 1775-1789 (1988)
PUBMED 2837653
REFERENCE 9 (bases 1 to 2123)
AUTHORS Vandekerckhove,J., Schering,B., Barmann,M. and Aktories,K.
TITLE Botulinum C2 toxin ADP-ribosylates cytoplasmic beta/gamma-actin in
arginine 177
JOURNAL J. Biol. Chem. 263 (2), 696-700 (1988)
PUBMED 3335520
REFERENCE 10 (bases 1 to 2123)
AUTHORS Chou,C.C., Davis,R.C., Fuller,M.L., Slovin,J.P., Wong,A.,
Wright,J., Kania,S., Shaked,R., Gatti,R.A. and Salser,W.A.
TITLE Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and
amino acid substitutions that may be cancer related
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (9), 2575-2579 (1987)
PUBMED 3472224
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB455954.1, AC139149.6 and
BC063495.1.
Summary: Actins are highly conserved proteins that are involved in
various types of cell motility, and maintenance of the
cytoskeleton. In vertebrates, three main groups of actin isoforms,
alpha, beta and gamma have been identified. The alpha actins are
found in muscle tissues and are a major constituent of the
contractile apparatus. The beta and gamma actins co-exist in most
cell types as components of the cytoskeleton, and as mediators of
internal cell motility. Actin, gamma 1, encoded by this gene, is a
cytoplasmic actin found in non-muscle cells. Mutations in this gene
are associated with DFNA20/26, a subtype of autosomal dominant
non-syndromic sensorineural progressive hearing loss. Alternative
splicing results in multiple transcript variants.[provided by
RefSeq, Jan 2011].
Transcript Variant: This variant (1) represents the longest
transcript. Variants 1 and 2 encode the same protein.
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 :: BC007442.2, BC000292.2 [ECO:0000331]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-86 DB455954.1 9-94
87-252 AC139149.6 18642-18807
253-381 AC139149.6 19062-19190
382-621 AC139149.6 19280-19519
622-1060 AC139149.6 19796-20234
1061-1242 AC139149.6 20314-20495
1243-2076 AC139149.6 20589-21422
2077-2123 BC063495.1 1810-1856
FEATURES Location/Qualifiers
source 1..2123
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25"
gene 1..2123
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/note="actin, gamma 1"
/db_xref="GeneID:71"
/db_xref="HGNC:144"
/db_xref="MIM:102560"
exon 1..252
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 85
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:7503278"
variation 101
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139403"
variation 109..110
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549207"
variation 113..114
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549240"
variation 117..118
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549198"
variation 223..224
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:17435367"
exon 253..381
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
CDS 259..1386
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/note="cytoskeletal gamma-actin"
/codon_start=1
/product="actin, cytoplasmic 2"
/protein_id="NP_001186883.1"
/db_xref="GI:316659409"
/db_xref="CCDS:CCDS11782.1"
/db_xref="GeneID:71"
/db_xref="HGNC:144"
/db_xref="MIM:102560"
/translation="
MEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
"
misc_feature 262..264
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylglutamate, in Actin, cytoplasmic 2,
N-terminally processed, partial; propagated from
UniProtKB/Swiss-Prot (P63261.1); acetylation site"
misc_feature 265..1383
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/note="Actin; Region: Actin; pfam00022"
/db_xref="CDD:200935"
misc_feature 280..801
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/note="Nucleotide-Binding Domain of the sugar
kinase/HSP70/actin superfamily; Region:
NBD_sugar-kinase_HSP70_actin; cd00012"
/db_xref="CDD:212657"
misc_feature order(289..300,304..306,310..312,667..669,718..729)
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/note="nucleotide binding site [chemical binding]; other
site"
/db_xref="CDD:212657"
misc_feature 475..477
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/experiment="experimental evidence, no additional details
recorded"
/note="Tele-methylhistidine; propagated from
UniProtKB/Swiss-Prot (P63261.1); methylation site"
variation 263
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549194"
STS 266..465
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC116333P1"
/db_xref="UniSTS:270310"
STS 291..443
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC97568P1"
/db_xref="UniSTS:273653"
variation 300
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549195"
variation 304
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549241"
variation 336
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549228"
variation 339
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549230"
variation 345
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549232"
STS 346..465
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC116333P2"
/db_xref="UniSTS:270311"
variation 346
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549243"
variation 353
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549231"
variation 357
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549238"
variation 363
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549193"
variation 371
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549244"
variation 377
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549236"
variation 378
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549174"
exon 382..621
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 384
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549197"
STS 397..1067
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="Acat1"
/db_xref="UniSTS:546573"
STS 397..896
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC85795P4"
/db_xref="UniSTS:273493"
variation 399
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549215"
variation 400
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549214"
variation 419
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549216"
STS 421..1329
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC108612P1"
/db_xref="UniSTS:270141"
STS 424..801
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC201106P1"
/db_xref="UniSTS:271883"
variation 434
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="t"
/db_xref="dbSNP:11549199"
variation 435
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549220"
variation 447
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549245"
variation 457
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549224"
variation 460
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="t"
/db_xref="dbSNP:11549233"
variation 479
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549185"
STS 484..943
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC137757P2"
/db_xref="UniSTS:270854"
STS 487..840
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC23952P1"
/db_xref="UniSTS:272216"
STS 496..859
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC129447P1"
/db_xref="UniSTS:270591"
STS 505..942
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC109653P1"
/db_xref="UniSTS:270174"
variation 528
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549209"
variation 556
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549188"
variation 558
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549239"
variation 562
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549229"
variation 563
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549172"
variation 581
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549181"
variation 593
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549176"
exon 622..1060
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
STS 624..941
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC115141P1"
/db_xref="UniSTS:270285"
STS 625..1119
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC224995P1"
/db_xref="UniSTS:272113"
STS 627..944
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC99880P2"
/db_xref="UniSTS:273691"
STS 627..893
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC152551P1"
/db_xref="UniSTS:271229"
STS 629..985
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC85361P1"
/db_xref="UniSTS:273471"
variation 636
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549201"
STS 640..893
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC275467P1"
/db_xref="UniSTS:272382"
variation 651
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11150794"
variation 657
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230158"
variation 671
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549180"
variation 681
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549226"
variation 688
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549196"
variation 707
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549175"
variation 714
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549208"
variation 723
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549227"
variation 729
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549222"
variation 737
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549206"
STS 740..1204
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC117780P1"
/db_xref="UniSTS:270340"
variation 771..772
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549192"
variation 773
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549177"
STS 776..1381
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC109669P1"
/db_xref="UniSTS:270176"
STS 782..940
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC133768P1"
/db_xref="UniSTS:270660"
STS 847..1342
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC138261P1"
/db_xref="UniSTS:270864"
variation 869
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549225"
variation 874..875
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549212"
STS 886..1252
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="Acta1"
/db_xref="UniSTS:478947"
variation 918
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549205"
variation 948
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549213"
variation 959
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549179"
STS 964..1202
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC101699P1"
/db_xref="UniSTS:270062"
variation 972
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549173"
variation 980..981
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549235"
variation 987
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230159"
variation 994
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549178"
variation 1010
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549202"
variation 1031
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549191"
exon 1061..1242
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
STS 1108..1329
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC20960P1"
/db_xref="UniSTS:272003"
variation 1134
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549211"
variation 1157
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549204"
variation 1176
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139405"
STS 1181..1339
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="PMC305873P2"
/db_xref="UniSTS:272568"
variation 1188
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1135989"
STS 1196..1325
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="fb23d02.x1"
/db_xref="UniSTS:190320"
variation 1212
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3211110"
variation 1227
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549187"
exon 1243..2105
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 1249
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549200"
variation 1272
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139807"
variation 1284
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139406"
variation 1298
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549186"
variation 1386
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549223"
STS 1519..1868
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="G06574"
/db_xref="UniSTS:50845"
variation 1636
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:3369"
variation 1700
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549182"
variation 1723
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:1063817"
variation 1725
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549183"
variation 1746
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1140892"
variation 1756
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139408"
variation 1781
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549221"
variation 1868
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1140383"
STS 1903..2097
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="SHGC-8015"
/db_xref="UniSTS:52694"
variation 1911
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139409"
variation 1912
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139410"
variation 1941
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549203"
STS 1984..2051
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/standard_name="D17S1646E"
/db_xref="UniSTS:147512"
variation 1986
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:7502276"
variation 2003
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139414"
ORIGIN
gcgcgccgccgggccgcgcgggcgcgccgcttccgcttaaataacggcgggggaggccgcggtcggtctcagtcgccgctgccagctctcgcactctgttcttccgccgctccgccgtcgcgtttctctgccggtgagcgccccgccccggggcctgagctggacgtcgcaggcctgcgccccccgaccccggctggccccgcttccagctgccgaggcctcgtcgcgccttccccgggaacaaaaggcggggtcgcaatggaagaagagatcgccgcgctggtcattgacaatggctccggcatgtgcaaagctggttttgctggggacgacgctccccgagccgtgtttccttccatcgtcgggcgccccagacaccagggcgtcatggtgggcatgggccagaaggactcctacgtgggcgacgaggcccagagcaagcgtggcatcctgaccctgaagtaccccattgagcatggcatcgtcaccaactgggacgacatggagaagatctggcaccacaccttctacaacgagctgcgcgtggccccggaggagcacccagtgctgctgaccgaggcccccctgaaccccaaggccaacagagagaagatgactcagattatgtttgagaccttcaacaccccggccatgtacgtggccatccaggccgtgctgtccctctacgcctctgggcgcaccactggcattgtcatggactctggagacggggtcacccacacggtgcccatctacgagggctacgccctcccccacgccatcctgcgtctggacctggctggccgggacctgaccgactacctcatgaagatcctcactgagcgaggctacagcttcaccaccacggccgagcgggaaatcgtgcgcgacatcaaggagaagctgtgctacgtcgccctggacttcgagcaggagatggccaccgccgcatcctcctcttctctggagaagagctacgagctgcccgatggccaggtcatcaccattggcaatgagcggttccggtgtccggaggcgctgttccagccttccttcctgggtatggaatcttgcggcatccacgagaccaccttcaactccatcatgaagtgtgacgtggacatccgcaaagacctgtacgccaacacggtgctgtcgggcggcaccaccatgtacccgggcattgccgacaggatgcagaaggagatcaccgccctggcgcccagcaccatgaagatcaagatcatcgcacccccagagcgcaagtactcggtgtggatcggtggctccatcctggcctcactgtccaccttccagcagatgtggattagcaagcaggagtacgacgagtcgggcccctccatcgtccaccgcaaatgcttctaaacggactcagcagatgcgtagcatttgctgcatgggttaattgagaatagaaatttgcccctggcaaatgcacacacctcatgctagcctcacgaaactggaataagccttcgaaaagaaattgtccttgaagcttgtatctgatatcagcactggattgtagaacttgttgctgattttgaccttgtattgaagttaactgttccccttggtatttgtttaataccctgtacatatctttgagttcaacctttagtacgtgtggcttggtcacttcgtggctaaggtaagaacgtgcttgtggaagacaagtctgtggcttggtgagtctgtgtggccagcagcctctgatctgtgcagggtattaacgtgtcagggctgagtgttctgggatttctctagaggctggcaagaaccagttgttttgtcttgcgggtctgtcagggttggaaagtccaagccgtaggacccagtttcctttcttagctgatgtctttggccagaacaccgtgggctgttacttgctttgagttggaagcggtttgcatttacgcctgtaaatgtattcattcttaatttatgtaaggttttttttgtacgcaattctcgattctttgaagagatgacaacaaattttggttttctactgttatgtgagaacattaggccccagcaacacgtcattgtgtaaggaaaaataaaagtgctgccgtaaccaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:71 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: IC
GeneID:71 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:71 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:71 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:71 -> Biological process: GO:0006928 [cellular component movement] evidence: TAS
GeneID:71 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:71 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:71 -> Biological process: GO:0034329 [cell junction assembly] evidence: TAS
GeneID:71 -> Biological process: GO:0034332 [adherens junction organization] evidence: TAS
GeneID:71 -> Biological process: GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis] evidence: TAS
GeneID:71 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:71 -> Biological process: GO:0045214 [sarcomere organization] evidence: IEA
GeneID:71 -> Biological process: GO:0045216 [cell-cell junction organization] evidence: TAS
GeneID:71 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:71 -> Cellular component: GO:0005856 [cytoskeleton] evidence: TAS
GeneID:71 -> Cellular component: GO:0030016 [myofibril] evidence: IEA
GeneID:71 -> Cellular component: GO:0031941 [filamentous actin] evidence: IEA
GeneID:71 -> Cellular component: GO:0070062 [extracellular vesicular exosome] evidence: IDA
by
@meso_cacase at
DBCLS
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