ACTA1

GENE INFORMATION

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Gene name

ACTA1 (HGNC Symbol)

Synonyms

ACTA, NEM3

Description

Actin, alpha 1, skeletal muscle (HGNC Symbol)

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]

Chromosome

1

Cytoband

q42.13

Chromosome location (bp)

229431245 - 229434098

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143632 (version 78.38)

Entrez gene

58

UniProt

P68133 (UniProt - Evidence at protein level)

neXtProt

NX_P68133

Antibodypedia

ACTA1 antibodies
 

PROTEIN VIEW

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ACTA1-001
 
ACTA1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACTA1-001 ENSP00000355645
ENST00000366684
P68133
Show all »
Show » Show » 377 42.1 No 0
ACTA1-201 ENSP00000355644
ENST00000366683
Show » 254 28.2 No 0