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alpha-actin-1; actin, alpha skeletal muscle (ACTA1, ACTA)
Function:
- alpha actin with role in muscle contraction
- interacts with TTID
- interacts (via its C-terminus) with USP25
- interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells
Structure: belongs to the actin family
Compartment: cytoplasm, cytoskeleton
Pathology:
- defects in ACTA1 are the cause of nemaline myopathy type 3
- defects in ACTA1 are a cause of:
a) congenital myopathy with excess of thin myofilaments
b) congenital myopathy with fiber-type disproportion
General
alpha actin
phosphoprotein
Properties
SIZE: entity length = 377 aa
MW = 42 kD
COMPARTMENT: cytoplasm
MOTIF: Tyr phosphorylation site {Y55}
Tyr phosphorylation site {Y93}
Tyr phosphorylation site {Y242}
Database Correlations
OMIM correlations
MORBIDMAP 102610
UniProt P68133
Pfam PF00022
Entrez Gene 58
Kegg hsa:58; -.
References
- UniProt :accession P68133
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ACTA1