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70 ACTC1

70

ACTC1

actin alpha cardiac muscle 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition actin alpha cardiac muscle 1

研究结论

Date Results Publications
2020-12-12 13:29:00 The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. 33049292
2020-10-10 13:00:00 Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR. 32424999
2020-07-25 11:32:00 A combined phenotype of atrial-septal defects and late-onset heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation. 31430208
2020-06-13 11:52:00 These data suggest that human ACTC1 p. Gly247Asp mutation negatively regulates serum response factor -signaling likely contributing to the late-onset dilated cardiomyopathy observed in mutation carrier patients. 31434612
2019-10-26 12:46:00 Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. 29440008

名称对应

Type IDs
Synonymous ACTC, ASD5, CMD1R, CMH11, LVNC4
Gene
UniProtKB-ID: ACTC_HUMAN, B3KPP5_HUMAN
UniprotKB: P68032, B3KPP5
UniParc: UPI0000003F15, UPI0000D467D4
EMBL: J00072, AK056592, J00070, J00073, J00071, CR541795, BC009978
Ensembl: ENSG00000159251
KO: hsa:70
Nucleutide sequences
EMBL-CDS: CAG46594.1, AAB59619.1, AAH09978.1, BAG51757.1
Ensembl_TRS: ENST00000290378
Protein sequencees
Ensembl_PRO: ENSP00000290378
RefSeq: NP_005150.1
Others
UniRef100: UniRef100_P68032
UniRef90: UniRef90_P68032
UniRef50: UniRef50_P68032
UniGene: Hs.118127
CCDS: CCDS10041.1

全选

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研究热度

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