InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTC1

Summary

InnateDB Protein

IDBP-5668.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTC1

Protein Name

actin, alpha, cardiac muscle 1

Synonyms

ACTC; ASD5; CMD1R; CMH11; LVNC4;

Species

Homo sapiens

Ensembl Protein

ENSP00000290378

InnateDB Gene

IDBG-5666 (ACTC1)

Protein Structure

UniProt Annotation

Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:9563954}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:10330430, ECO:0000269PubMed:10966831, ECO:0000269PubMed:14729850, ECO:0000269PubMed:18403758}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269PubMed:17947298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	36 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0017022	myosin binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006915	apoptotic process
GO:0030048	actin filament-based movement
GO:0030049	muscle filament sliding
GO:0030240	skeletal muscle thin filament assembly
GO:0031032	actomyosin structure organization
GO:0033275	actin-myosin filament sliding
GO:0042493	response to drug
GO:0043066	negative regulation of apoptotic process
GO:0045471	response to ethanol
GO:0055003	cardiac myofibril assembly
GO:0055008	cardiac muscle tissue morphogenesis
GO:0060047	heart contraction
GO:0060048	cardiac muscle contraction
GO:0070252	actin-mediated cell contraction

Cellular Component

GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005884	actin filament
GO:0016020	membrane
GO:0030017	sarcomere
GO:0031674	I band
GO:0042643	actomyosin, actin part
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle