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ACTG1 (actin gamma 1)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
71
Gene nameGene Name - the full gene name approved by the HGNC.
Actin gamma 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ACTG1
SynonymsGene synonyms aliases
ACT, ACTG, DFNA20, DFNA26, HEL-176
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
SummarySummary of gene provided in NCBI Entrez Gene.
Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. 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 all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs104894545 G>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs104894547 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs113262912 C>G,T Likely-pathogenic Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs201121917 C>A,G,T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, synonymous variant, coding sequence variant
rs1555666392 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT001852 hsa-let-7b-5p Luciferase reporter assay, Reporter assay;Other 15131085
MIRT001852 hsa-let-7b-5p CLASH 23622248
MIRT031957 hsa-miR-16-5p Proteomics 18668040
MIRT031957 hsa-miR-16-5p CLASH 23622248
MIRT035814 hsa-miR-1307-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IMP 25705373
GO:0001738 Process Morphogenesis of a polarized epithelium IMP 22855531
GO:0001895 Process Retina homeostasis HEP 23580065
GO:0005200 Function Structural constituent of cytoskeleton IC 16130169
GO:0005515 Function Protein binding IPI 16189514, 20706999, 21516116, 25241761, 25416956, 25910212, 25959826, 28493397, 29892012, 30561431, 30886144, 31515488, 32296183, 32814053
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
UniProt ID P63261
Protein name Actin, cytoplasmic 2 (Gamma-actin) [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
Protein function Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
PDB 5JLH , 6CXI , 6CXJ , 6G2T , 6V62 , 6V63 , 6WK1 , 6WK2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00022 Actin
2 → 375
Actin
 Family
Sequence
Sequence length 375
Interactions View interactions

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