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 |
|---|---|---|---|---|---|
| actin, alpha, cardiac muscle 1 | MIM:102540 | Ensembl:ENSG00000159251 | HGNC:HGNC:143 | PA162375571 | 15q14 |
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 |
| BP | TAS | GO:0030049 | muscle filament sliding |
| BP | ISS | GO:0030240 | skeletal muscle thin filament assembly |
| BP | ISS | GO:0031032 | actomyosin structure organization |
| BP | IMP | GO:0033275 | actin-myosin filament sliding |
| BP | IEA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0045471 | response to ethanol |
| BP | ISS | GO:0055003 | cardiac myofibril assembly |
| BP | ISS | GO:0055008 | cardiac muscle tissue morphogenesis |
| BP | IMP | GO:0060047 | heart contraction |
| BP | IEA | GO:0060048 | cardiac muscle contraction |
| BP | ISS | GO:0090131 | mesenchyme migration |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005884 | actin filament |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0030017 | sarcomere |
| CC | ISS | GO:0030027 | lamellipodium |
| CC | ISS | GO:0030175 | filopodium |
| CC | ISS | GO:0031674 | I band |
| CC | IDA | GO:0042643 | actomyosin, actin portion |
| CC | ISS | GO:0044297 | cell body |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | HDA | GO:0072562 | blood microparticle |
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) |
| wikipathways | WP2406 | Cardiac Progenitor Differentiation |
| wikipathways | WP289 | Myometrial Relaxation and Contraction Pathways |
| wikipathways | WP383 | Striated Muscle Contraction |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACTC1
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