ACTN3

GENE INFORMATION

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Gene name

ACTN3

Synonyms

Description

Actinin, alpha 3 (gene/pseudogene) (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]

Chromosome

11

Cytoband

q13.2

Chromosome location (bp)

66546395 - 66563329

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000248746 (version 78.38)

Entrez gene

89

UniProt

Q08043 (UniProt - Evidence at protein level)

neXtProt

NX_Q08043

Antibodypedia

ACTN3 antibodies
 

PROTEIN VIEW

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ACTN3-001
 
ACTN3-003
 
 
 
 
 

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)

ACTN3-001 ENSP00000426797
ENST00000513398
Q08043
Show all »
Show » Show » 901 103.2 No 0
ACTN3-003 ENSP00000422007
ENST00000502692
Show » Show » 944 107.6 No 0