Gene
|
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 f |
SNPsSNP information provided by dbSNP.
|
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 ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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 |
GO:0005522 |
Function |
Profilin binding |
IDA |
28493397 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470, 23580065 |
GO:0005634 |
Component |
Nucleus |
HDA |
21630459 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005856 |
Component |
Cytoskeleton |
ISS |
|
GO:0005856 |
Component |
Cytoskeleton |
TAS |
16130169 |
GO:0005884 |
Component |
Actin filament |
IBA |
21873635 |
GO:0005884 |
Component |
Actin filament |
IDA |
28493397 |
GO:0005886 |
Component |
Plasma membrane |
ISS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0005911 |
Component |
Cell-cell junction |
IDA |
22855531 |
GO:0005925 |
Component |
Focal adhesion |
ISS |
|
GO:0010628 |
Process |
Positive regulation of gene expression |
IMP |
25705373 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0030335 |
Process |
Positive regulation of cell migration |
IMP |
25705373 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
21753002 |
GO:0034329 |
Process |
Cell junction assembly |
TAS |
|
GO:0035633 |
Process |
Maintenance of blood-brain barrier |
NAS |
30280653 |
GO:0038096 |
Process |
Fc-gamma receptor signaling pathway involved in phagocytosis |
TAS |
|
GO:0042802 |
Function |
Identical protein binding |
IPI |
16189514, 21516116, 25416956, 25910212 |
GO:0043296 |
Component |
Apical junction complex |
IDA |
22855531 |
GO:0048013 |
Process |
Ephrin receptor signaling pathway |
TAS |
|
GO:0051492 |
Process |
Regulation of stress fiber assembly |
IMP |
25705373 |
GO:0051893 |
Process |
Regulation of focal adhesion assembly |
IMP |
25705373 |
GO:0061024 |
Process |
Membrane organization |
TAS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
20458337, 23533145 |
GO:0070062 |
Component |
Extracellular exosome |
IDA |
21557262 |
GO:0070527 |
Process |
Platelet aggregation |
HMP |
23382103 |
GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
GO:0090303 |
Process |
Positive regulation of wound healing |
IMP |
25705373 |
GO:0097433 |
Component |
Dense body |
ISS |
|
GO:0098973 |
Function |
Structural constituent of postsynaptic actin cytoskeleton |
IBA |
21873635 |
GO:0098974 |
Process |
Postsynaptic actin cytoskeleton organization |
IEA |
|
GO:0120192 |
Process |
Tight junction assembly |
IMP |
22855531 |
GO:0150111 |
Process |
Regulation of transepithelial transport |
IMP |
22855531 |
GO:1902396 |
Process |
Protein localization to bicellular tight junction |
IMP |
22855531 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P63261 |
Protein name |
Actin, cytoplasmic 2 (EC 3.6.4.-) (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. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivit |
PDB |
5JLH
,
6CXI
,
6CXJ
,
6G2T
,
6V62
,
6V63
,
6WK1
,
6WK2
,
7NVM
,
8DNF
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00022 |
Actin |
2 → 375 |
Actin |
Family |
|
Sequence |
|
Sequence length |
375 |
Interactions |
View interactions |