InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTG1

Summary

InnateDB Protein

IDBP-762961.3

Last Modified

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

Gene Symbol

ACTG1

Protein Name

Synonyms

ACT; ACTG; BRWS1; BRWS2; DFNA20; DFNA26; HEL-176; PS1TP5BP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000458435

InnateDB Gene

IDBG-72264 (ACTG1)

Protein Structure

UniProt Annotation

Function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:13680526, ECO:0000269PubMed:14684684, ECO:0000269PubMed:16773128, ECO:0000269PubMed:18804074, ECO:0000269PubMed:19477959}. Note=The disease is caused by mutations affecting the gene represented in this entry.Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 122 experimentally validated interaction(s) in this database.

Experimentally validated
Total	122 [view]
Protein-Protein	122 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0042802	identical protein binding

Biological Process

GO:0001895	retina homeostasis
GO:0006928	cellular component movement
GO:0007411	axon guidance
GO:0034329	cell junction assembly
GO:0034332	adherens junction organization
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0045087	innate immune response
GO:0045216	cell-cell junction organization
GO:0061024	membrane organization

Cellular Component

GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle