Actin, cytoplasmic 2

ACTG1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5JLH
Identifiers
Aliases	ACTG1, ACT, ACTG, BRWS2, DFNA20, DFNA26, HEL-176, actin gamma 1
External IDs	OMIM: 102560; MGI: 87906; HomoloGene: 74402; GeneCards: ACTG1; OMA:ACTG1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,509,413 bp[1] End 81,523,847 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,236,516 bp[2] End 120,239,368 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum ventricular zone amniotic fluid embryo ganglionic eminence parietal pleura epithelium of nasopharynx visceral pleura spinal ganglia pericardium Top expressed in granulocyte ganglionic eminence neural tube mesencephalon dentate gyrus of hippocampal formation granule cell placenta primary visual cortex epiblast blastocyst stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding ubiquitin protein ligase binding identical protein binding structural constituent of cytoskeleton profilin binding Cellular component focal adhesion nucleus dense body cytoplasm membrane cytosol extracellular exosome blood microparticle plasma membrane cytoskeleton extracellular matrix extracellular space actin cytoskeleton myofibril filamentous actin myelin sheath actin filament Biological process cell junction assembly ephrin receptor signaling pathway platelet aggregation Fc-gamma receptor signaling pathway involved in phagocytosis retina homeostasis vascular endothelial growth factor receptor signaling pathway membrane organization sarcomere organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 71 11465 Ensembl ENSG00000184009 ENSMUSG00000062825 UniProt P63261 P63260 RefSeq (mRNA) NM_001199954 NM_001614 NM_009609 NM_001313923 RefSeq (protein) NP_001186883 NP_001605 NP_001300852 NP_033739 Location (UCSC) Chr 17: 81.51 – 81.52 Mb Chr 11: 120.24 – 120.24 Mb PubMed search [3] [4]
Wikidata
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Actin, cytoplasmic 2, or gamma-actin is a protein that in humans is encoded by the ACTG1 gene.^[5] Gamma-actin is widely expressed in cellular cytoskeletons of many tissues; in adult striated muscle cells, gamma-actin is localized to Z-discs and costamere structures, which are responsible for force transduction and transmission in muscle cells. Mutations in ACTG1 have been associated with nonsyndromic hearing loss and Baraitser-Winter syndrome, as well as susceptibility of adolescent patients to vincristine toxicity.