Homo sapiens Gene: ACTG1
Summary
InnateDB Gene IDBG-72264.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTG1
Gene Name actin, gamma 1
Synonyms ACT; ACTG; BRWS1; BRWS2; DFNA20; DFNA26; HEL-176; PS1TP5BP1
Species Homo sapiens
Ensembl Gene ENSG00000184009
Encoded Proteins
actin, gamma 1
actin, gamma 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:81509971-81523847
Strand Reverse strand
Band q25.3
Transcripts
ENST00000331925 ENSP00000331514
ENST00000576214
ENST00000570382 ENSP00000466346
ENST00000571721 ENSP00000460660
ENST00000574671
ENST00000573283 ENSP00000458435
ENST00000575994 ENSP00000460464
ENST00000575087 ENSP00000459124
ENST00000575659 ENSP00000459119
ENST00000571691 ENSP00000461407
ENST00000576917
ENST00000572105 ENSP00000462823
ENST00000576209
ENST00000575842 ENSP00000458162
ENST00000576544 ENSP00000461672
ENST00000615544 ENSP00000477968
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:0045214 sarcomere organization
GO:0045216 cell-cell junction organization
GO:0061024 membrane organization
Cellular Component
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030016 myofibril
GO:0031941 filamentous actin
GO:0070062 extracellular vesicular exosome
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Regulation of actin dynamics for phagocytic cup formation pathway
Formation of annular gap junctions pathway
Gap junction degradation pathway
Translocation of GLUT4 to the plasma membrane pathway
Cell-extracellular matrix interactions pathway
Adherens junctions interactions pathway
Recycling pathway of L1 pathway
Interaction between L1 and Ankyrins pathway
L1CAM interactions pathway
Developmental Biology pathway
Cell-Cell communication pathway
Cell junction organization pathway
EPHB-mediated forward signaling pathway
Signaling by VEGF pathway
Innate Immune System pathway
Axon guidance pathway
Signal Transduction pathway
Gap junction trafficking pathway
Immune System pathway
VEGFA-VEGFR2 Pathway pathway
Fcgamma receptor (FCGR) dependent phagocytosis pathway
EPH-ephrin mediated repulsion of cells pathway
EPH-Ephrin signaling pathway
Cell-cell junction organization pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
KEGG
Regulation of actin cytoskeleton pathway
Vibrio cholerae infection pathway
Pathogenic Escherichia coli infection pathway
Adherens junction pathway
Leukocyte transendothelial migration pathway
Tight junction pathway
Focal adhesion pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Dilated cardiomyopathy pathway
Viral myocarditis pathway
Gastric acid secretion pathway
Bacterial invasion of epithelial cells pathway
Shigellosis pathway
Phagosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001199954 NM_001614 XM_006722048
HUGO
OMIM
CCDS CCDS11782
HPRD 00017
IMGT
EMBL
GenPept
RNA Seq Atlas