ACTC1
Summary: Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:102540 Ensembl IDEnsembl:ENSG00000159251 HGNC IDHGNC:HGNC:143 PHARMGKB IDPA162375571 Map Location15q14 | |||||
Gene Categories:
DRUG RESISTANCEGO terms in ACTC1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0005524 | ATP binding |
| MF | IDA | GO:0016887 | ATPase activity |
| MF | IDA | GO:0017022 | myosin binding |
| MF | IPI | GO:0017022 | myosin binding |
| BP | ISS | GO:0010628 | positive regulation of gene expression |
| BP | IDA | GO:0030048 | actin filament-based movement |
Gene expression in normal tissue: ACTC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACTC1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-390522 | Striated Muscle Contraction |
| reactome | R-HSA-397014 | Muscle contraction |
| kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
| kegg | hsa05414 | Dilated cardiomyopathy (DCM) - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD284 | Palbociclib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACTC1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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