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2025-05-09 18:43:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_037688 1855 bp RNA linear PRI 16-JUL-2013
DEFINITION Homo sapiens actin, gamma 1 (ACTG1), transcript variant 3,
non-coding RNA.
ACCESSION NR_037688
VERSION NR_037688.1 GI:316659410
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 1855)
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 (3) includes an alternate splice
site in the 3' UTR, compared to variant 1, which makes the
transcript a candidate for nonsense-mediated mRNA decay (NMD).
Transcripts subjected to NMD are degraded prior to protein
translation. The transcript is sufficiently abundant to represent
as a RefSeq record though a predicted protein is not represented.
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.
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-75 DB455954.1 9-83
76-133 AC139149.6 18631-18688
134-262 AC139149.6 19062-19190
263-502 AC139149.6 19280-19519
503-941 AC139149.6 19796-20234
942-1123 AC139149.6 20314-20495
1124-1478 AC139149.6 20589-20943
1479-1795 AC139149.6 21093-21409
1796-1855 BC063495.1 1797-1856
FEATURES Location/Qualifiers
source 1..1855
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25"
gene 1..1855
/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"
misc_RNA 1..1855
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/product="actin, gamma 1, transcript variant 3"
/db_xref="GeneID:71"
/db_xref="HGNC:144"
/db_xref="MIM:102560"
exon 1..133
/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"
exon 134..262
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
misc_feature 140..1267
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="COORDINATES:
alignment:Blast2seq::RefSeq|NM_001199954.1"
/note="primary ORF has stop codon >50 nucleotides from the
terminal splice site; nonsense-mediated decay (NMD)
candidate"
variation 144
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549194"
variation 181
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549195"
variation 185
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549241"
variation 217
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549228"
variation 220
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549230"
variation 226
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549232"
variation 227
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549243"
variation 234
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549231"
variation 238
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549238"
variation 244
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549193"
variation 252
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549244"
variation 258
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549236"
variation 259
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549174"
exon 263..502
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 265
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549197"
variation 280
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549215"
variation 281
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549214"
variation 300
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549216"
variation 315
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="t"
/db_xref="dbSNP:11549199"
variation 316
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549220"
variation 328
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549245"
variation 338
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549224"
variation 341
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="t"
/db_xref="dbSNP:11549233"
variation 360
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549185"
variation 409
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549209"
variation 437
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549188"
variation 439
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549239"
variation 443
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/db_xref="dbSNP:11549229"
variation 444
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549172"
variation 462
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549181"
variation 474
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549176"
exon 503..941
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 517
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549201"
variation 532
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11150794"
variation 538
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230158"
variation 552
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549180"
variation 562
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549226"
variation 569
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549196"
variation 588
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549175"
variation 595
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549208"
variation 604
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549227"
variation 610
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549222"
variation 618
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549206"
variation 652..653
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549192"
variation 654
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549177"
variation 750
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549225"
variation 755..756
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549212"
variation 799
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549205"
variation 829
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11549213"
variation 840
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549179"
variation 853
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549173"
variation 861..862
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549235"
variation 868
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230159"
variation 875
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549178"
variation 891
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549202"
variation 912
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549191"
exon 942..1123
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 1015
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549211"
variation 1038
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549204"
variation 1057
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139405"
variation 1069
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1135989"
variation 1093
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3211110"
variation 1108
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549187"
exon 1124..1478
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 1130
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="g"
/db_xref="dbSNP:11549200"
variation 1153
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139807"
variation 1165
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139406"
variation 1179
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549186"
variation 1267
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549223"
exon 1479..1837
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/inference="alignment:Splign:1.39.8"
variation 1488
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139408"
variation 1513
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549221"
variation 1600
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1140383"
variation 1643
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139409"
variation 1644
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="c"
/replace="t"
/db_xref="dbSNP:1139410"
variation 1673
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11549203"
variation 1718
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:7502276"
variation 1735
/gene="ACTG1"
/gene_synonym="ACT; ACTG; BRWS2; DFNA20; DFNA26"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139414"
ORIGIN
gcgcgccgccgggccgcgcgggcgcgccgcttccgcttaaataacggcgggggaggccgcggtcggtctcagtcgccgctgccagctctcgcactctgttcttccgccgctccgccgtcgcgtttctctgccggtcgcaatggaagaagagatcgccgcgctggtcattgacaatggctccggcatgtgcaaagctggttttgctggggacgacgctccccgagccgtgtttccttccatcgtcgggcgccccagacaccagggcgtcatggtgggcatgggccagaaggactcctacgtgggcgacgaggcccagagcaagcgtggcatcctgaccctgaagtaccccattgagcatggcatcgtcaccaactgggacgacatggagaagatctggcaccacaccttctacaacgagctgcgcgtggccccggaggagcacccagtgctgctgaccgaggcccccctgaaccccaaggccaacagagagaagatgactcagattatgtttgagaccttcaacaccccggccatgtacgtggccatccaggccgtgctgtccctctacgcctctgggcgcaccactggcattgtcatggactctggagacggggtcacccacacggtgcccatctacgagggctacgccctcccccacgccatcctgcgtctggacctggctggccgggacctgaccgactacctcatgaagatcctcactgagcgaggctacagcttcaccaccacggccgagcgggaaatcgtgcgcgacatcaaggagaagctgtgctacgtcgccctggacttcgagcaggagatggccaccgccgcatcctcctcttctctggagaagagctacgagctgcccgatggccaggtcatcaccattggcaatgagcggttccggtgtccggaggcgctgttccagccttccttcctgggtatggaatcttgcggcatccacgagaccaccttcaactccatcatgaagtgtgacgtggacatccgcaaagacctgtacgccaacacggtgctgtcgggcggcaccaccatgtacccgggcattgccgacaggatgcagaaggagatcaccgccctggcgcccagcaccatgaagatcaagatcatcgcacccccagagcgcaagtactcggtgtggatcggtggctccatcctggcctcactgtccaccttccagcagatgtggattagcaagcaggagtacgacgagtcgggcccctccatcgtccaccgcaaatgcttctaaacggactcagcagatgcgtagcatttgctgcatgggttaattgagaatagaaatttgcccctggcaaatgcacacacctcatgctagcctcacgaaactggaataagccttcgaaaagaaattgtccttgaagcttgtatctgatatcagcactggattgtagaacttgttgctgattttgaccttgtattgaagttaactgttccccttgggtattaacgtgtcagggctgagtgttctgggatttctctagaggctggcaagaaccagttgttttgtcttgcgggtctgtcagggttggaaagtccaagccgtaggacccagtttcctttcttagctgatgtctttggccagaacaccgtgggctgttacttgctttgagttggaagcggtttgcatttacgcctgtaaatgtattcattcttaatttatgtaaggttttttttgtacgcaattctcgattctttgaagagatgacaacaaattttggttttctactgttatgtgagaacattaggccccagcaacacgtcattgtgtaaggaaaaataaaagtgctgccgtaaccaaaaaaaaaaaaaaaaaaaa
//
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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