Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 70
MIM: 102540
HGNC: 143
Ensembl: ENSG00000159251
Variants:
dbSNP: 70
ClinVar: 70
TCGA: ENSG00000159251
COSMIC: ACTC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000159251 | ENST00000290378 | P68032 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA231 | LMNA | Gene | DataAnnotation | associated | |||
| PA28707 | GLA | Gene | DataAnnotation | associated | |||
| PA31351 | MYBPC3 | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA31381 | MYL3 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36638 | TNNT2 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36960733 | 2023 | Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene. | 1 |
| 37252999 | 2023 | Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. | 4 |
| 37457373 | 2023 | Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. | 2 |
| 36960733 | 2023 | Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene. | 1 |
| 37252999 | 2023 | Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. | 4 |
| 37457373 | 2023 | Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. | 2 |
| 36011517 | 2022 | Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. | 1 |
| 36011517 | 2022 | Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. | 1 |
| 32359161 | 2020 | Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast. | 22 |
| 32424999 | 2020 | 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. | 6 |
| 33049292 | 2020 | The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. | 1 |
| 32359161 | 2020 | Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast. | 22 |
| 32424999 | 2020 | 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. | 6 |
| 33049292 | 2020 | The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. | 1 |
| 31430208 | 2019 | Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. | 18 |
Citation
Dessen P
ACTC1 (actin alpha cardiac muscle 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-03-01
Online version: http://atlasgeneticsoncology.org/gene/51388/actc1
