InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ACTN3

Summary

InnateDB Gene

IDBG-409425.4

Last Modified

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

Gene Symbol

ACTN3

Gene Name

actinin, alpha 3 (gene/pseudogene)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000248746

Encoded Proteins

IDBP-480400

actinin, alpha 3

IDBP-480623

actinin, alpha 3

IDBP-482084

actinin, alpha 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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 contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2012]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:66546395-66563329

Strand

Forward strand

Band

q13.2

Transcripts

ENST00000502692	ENSP00000422007
ENST00000511191	ENSP00000426236
ENST00000513398	ENSP00000426797

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0042803	protein homodimerization activity
GO:0051015	actin filament binding

Biological Process

GO:0006936	muscle contraction
GO:0030049	muscle filament sliding
GO:0042981	regulation of apoptotic process
GO:0048041	focal adhesion assembly

Cellular Component

GO:0005829	cytosol
GO:0005884	actin filament
GO:0005925	focal adhesion
GO:0030017	sarcomere
GO:0030018	Z disc
GO:0031143	pseudopodium

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_23832

Nephrin interactions pathway

REACT_16969

Striated Muscle Contraction pathway

REACT_111155

Cell-Cell communication pathway

REACT_17044

Muscle contraction pathway

KEGG

hsa04810

Regulation of actin cytoskeleton pathway

hsa04520

Adherens junction pathway

hsa04670

Leukocyte transendothelial migration pathway

hsa04530

Tight junction pathway

hsa04510

Focal adhesion pathway

hsa05322

Systemic lupus erythematosus pathway

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

hsa05146

Amoebiasis pathway

INOH

PID NCI

Cross-References

SwissProt

Q08043

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.654432

RefSeq

NM_001104 NM_001258371

HUGO

HGNC:165

OMIM

102574

CCDS

HPRD

02148

IMGT

EMBL

AP002748 BC099647 BC099649 M86407

GenPept

AAA51585 AAH99647 AAH99649

RNA Seq Atlas