InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-5668

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

ENSMUSG00000068614

View Gene Order

ENSBTAG00000005714

Not yet available

Pathways

NETPATH

REACTOME

REACT_16969

Striated Muscle Contraction pathway

REACT_17044

Muscle contraction pathway

KEGG

hsa05410

Hypertrophic cardiomyopathy (HCM) pathway

hsa04260

Cardiac muscle contraction pathway

hsa05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Cross-References

SwissProt

P68032

TrEMBL

B3KPP5

UniProt Splice Variant

Entrez Gene

UniGene

Hs.118127

RefSeq

NM_005159

HUGO

HGNC:143

OMIM

102540

CCDS

CCDS10041

HPRD

IMGT

EMBL

AK056592 BC009978 CR541795 J00070 J00071 J00072 J00073

GenPept

AAB59619 AAH09978 BAG51757 CAG46594

RNA Seq Atlas