Homo sapiens Gene: ACTC1
Summary
InnateDB Gene IDBG-5666.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTC1
Gene Name actin, alpha, cardiac muscle 1
Synonyms ACTC; ASD5; CMD1R; CMH11; LVNC4;
Species Homo sapiens
Ensembl Gene ENSG00000159251
Encoded Proteins
actin, alpha, cardiac muscle 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:34788096-34796139
Strand Reverse strand
Band q14
Transcripts
ENST00000290378 ENSP00000290378
ENST00000557860
ENST00000560563
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Muscle contraction pathway
Striated Muscle Contraction pathway
KEGG
Cardiac muscle contraction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P68032
TrEMBL B3KPP5
UniProt Splice Variant
Entrez Gene 70
UniGene Hs.118127
RefSeq NM_005159
HUGO HGNC:143
OMIM 102540
CCDS CCDS10041
HPRD 00015
IMGT
EMBL AK056592 BC009978 CR541795 J00070 J00071 J00072 J00073
GenPept AAB59619 AAH09978 BAG51757 CAG46594
RNA Seq Atlas 70