Type | Description |
---|---|
Definition | actin alpha cardiac muscle 1 |
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 |
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
|
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Refseq |
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