InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ACTA1

Summary

InnateDB Gene

IDBG-107311.6

Last Modified

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

Gene Symbol

ACTA1

Gene Name

actin, alpha 1, skeletal muscle

Synonyms

ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3

Species

Homo sapiens

Ensembl Gene

ENSG00000143632

Encoded Proteins

IDBP-107313

actin, alpha 1, skeletal muscle

IDBP-107317

actin, alpha 1, skeletal muscle

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:229431245-229434098

Strand

Reverse strand

Band

q42.13

Transcripts

ENST00000366684	ENSP00000355645
ENST00000366683	ENSP00000355644

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 108 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	108 [view]
Protein-Protein	108 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0017022	myosin binding
GO:0043531	ADP binding

Biological Process

GO:0006936	muscle contraction
GO:0009612	response to mechanical stimulus
GO:0009991	response to extracellular stimulus
GO:0010226	response to lithium ion
GO:0016049	cell growth
GO:0030049	muscle filament sliding
GO:0030240	skeletal muscle thin filament assembly
GO:0043503	skeletal muscle fiber adaptation
GO:0048545	response to steroid hormone
GO:0048741	skeletal muscle fiber development

Cellular Component

GO:0001725	stress fiber
GO:0005615	extracellular space
GO:0005829	cytosol
GO:0005865	striated muscle thin filament
GO:0005884	actin filament
GO:0015629	actin cytoskeleton
GO:0030017	sarcomere
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031972

View Gene Order

ENSBTAG00000046332

Not yet available

Pathways

NETPATH

NetPath_11

TCR pathway

REACTOME

REACT_16969

Striated Muscle Contraction pathway

REACT_17044

Muscle contraction pathway

KEGG

INOH

PID NCI

caspase_pathway

Caspase Cascade in Apoptosis

fak_pathway

Signaling events mediated by focal adhesion kinase

ap1_pathway

AP-1 transcription factor network

rhoa_pathway

RhoA signaling pathway

Cross-References

SwissProt

P68133

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.1288

RefSeq

NM_001100

HUGO

HGNC:129

OMIM

102610

CCDS

CCDS1578

HPRD

00030

IMGT

EMBL

AF182035 AL160004 BC012597 CH471098 CR536516 CR541796 J00068 M20543

GenPept

AAA60296 AAB59376 AAF02694 AAH12597 CAG38754 CAG46595 CAI19050 EAW69898

RNA Seq Atlas