Sequence Detail

ID/Version

O88990 Q14DS8 (UniProt | EBI)

Last sequence update: 1998-11-01
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Alpha-actinin-3;AltName: Full=Alpha-actinin skeletal muscle isoform 3;AltName: Full=F-actin cross-linking protein;

Provider

SWISS-PROT

Sequence

Polypeptide 900 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Actn3	actinin alpha 3	40	101	4	16

Sequence references in MGI

J:125639 Macarthur DG, et al., Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007 Oct;39(10):1261-5
J:133465 MacArthur DG, et al., An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet. 2008 Apr 15;17(8):1076-86
J:157945 Quinlan KG, et al., {alpha}-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet. 2010 Apr 1;19(7):1335-46