ACTG1
entrez
71
canonical
uniprot
P63261
canonical
ensembl
ENSG00000184009
resolver
ensembl
ENSG00000291420
resolver
ensp
ENSP00000458162
resolver
ensp
ENSP00000458435
resolver
ensp
ENSP00000459119
resolver
ensp
ENSP00000459124
resolver
ensp
ENSP00000460464
resolver
ensp
ENSP00000460660
resolver
ensp
ENSP00000461672
resolver
ensp
ENSP00000466346
resolver
ensp
ENSP00000477968
resolver
ensp
ENSP00000505060
resolver
ensp
ENSP00000505193
resolver
ensp
ENSP00000505235
resolver
ensp
ENSP00000506126
resolver
ensp
ENSP00000506201
resolver
ensp
ENSP00000506253
resolver
ensp
ENSP00000516869
resolver
ensp
ENSP00000516870
resolver
ensp
ENSP00000516871
resolver
ensp
ENSP00000516872
resolver
ensp
ENSP00000516873
resolver
ensp
ENSP00000516874
resolver
ensp
ENSP00000516875
resolver
ensp
ENSP00000516876
resolver
ensp
ENSP00000516877
resolver
ensp
ENSP00000516879
resolver
ensp
ENSP00000516881
resolver
ensp
ENSP00000516882
resolver
ensp
ENSP00000516884
resolver
ensp
ENSP00000516886
resolver
ensp
ENSP00000516887
resolver
ensp
ENSP00000533104
resolver
ensp
ENSP00000533105
resolver
ensp
ENSP00000586020
resolver
ensp
ENSP00000586021
resolver
ensp
ENSP00000586022
resolver
ensp
ENSP00000586023
resolver
ensp
ENSP00000586024
resolver
ensp
ENSP00000586026
resolver
ensp
ENSP00000586029
resolver
ensp
ENSP00000586035
resolver
ensp
ENSP00000624503
resolver
enst
ENST00000570382
resolver
enst
ENST00000571721
resolver
enst
ENST00000573283
resolver
enst
ENST00000575087
resolver
enst
ENST00000575659
resolver
enst
ENST00000575842
resolver
enst
ENST00000575994
resolver
enst
ENST00000576544
resolver
enst
ENST00000615544
resolver
enst
ENST00000679480
resolver
enst
ENST00000679778
resolver
enst
ENST00000680227
resolver
enst
ENST00000680727
resolver
enst
ENST00000681052
resolver
enst
ENST00000681842
resolver
enst
ENST00000707466
resolver
enst
ENST00000707467
resolver
enst
ENST00000707468
resolver
enst
ENST00000707469
resolver
enst
ENST00000707470
resolver
enst
ENST00000707471
resolver
enst
ENST00000707472
resolver
enst
ENST00000707473
resolver
enst
ENST00000707474
resolver
enst
ENST00000707479
resolver
enst
ENST00000707482
resolver
enst
ENST00000707485
resolver
enst
ENST00000707487
resolver
enst
ENST00000707489
resolver
enst
ENST00000707490
resolver
enst
ENST00000863045
resolver
enst
ENST00000863046
resolver
enst
ENST00000915961
resolver
enst
ENST00000915962
resolver
enst
ENST00000915963
resolver
enst
ENST00000915964
resolver
enst
ENST00000915965
resolver
enst
ENST00000915967
resolver
enst
ENST00000915970
resolver
enst
ENST00000915976
resolver
enst
ENST00000954444
resolver
genesymbol
ACTG1
resolver
genesymbol_syn
ACTG
resolver
hgnc
HGNC:144
resolver
uniprot
A8K7C2
resolver
uniprot
P02571
resolver
uniprot
P14104
resolver
uniprot
P99022
resolver
uniprot
Q5U032
resolver
uniprot
Q96E67
resolver
uniprot_entry
ACTG_HUMAN
resolver
uniprot_sec
A8K7C2
resolver
uniprot_sec
P02571
resolver
uniprot_sec
P14104
resolver
uniprot_sec
P99022
resolver
uniprot_sec
Q5U032
resolver
uniprot_sec
Q96E67
resolver
amino_acid_sequence
MEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:13680526, ECO:0000269|PubMed:14684684, ECO:0000269|PubMed:16773128, ECO:0000269|PubMed:18804074, ECO:0000269|PubMed:19477959, ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:25388789, ECO:0000269|PubMed:3472224}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:22366783}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in ACTG1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
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 sensitivity following loud noise damage (By similarity). {ECO:0000250|UniProtKB:P63260, ECO:0000305|PubMed:29581253}.
uniprot
proteins
mass_dalton
41793
uniprot
proteins
post_translational_modification
PTM: Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization. {ECO:0000250|UniProtKB:P63260}.; PTM: Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. {ECO:0000269|PubMed:23673617}.; PTM: [Actin, cytoplasmic 2]: N-terminal cleavage of acetylated methionine of immature cytoplasmic actin by ACTMAP. {ECO:0000269|PubMed:36173861}.; PTM: [Actin, cytoplasmic 2, N-terminally processed]: N-terminal acetylation by NAA80 affects actin filament depolymerization and elongation, including elongation driven by formins (PubMed:29581253). In contrast, filament nucleation by the Arp2/3 complex is not affected (PubMed:29581253). {ECO:0000269|PubMed:29581253}.; PTM: Methylated at His-73 by SETD3. {ECO:0000269|PubMed:30626964}.; PTM: (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148). {ECO:0000305|PubMed:19015515, ECO:0000305|PubMed:26228148}.
uniprot
proteins
protein_family
Actin family
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
13680526
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14684684
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16773128
uniprot
proteins
pubmed
18804074
uniprot
proteins
pubmed
19015515
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19477959
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22366783
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22938506
uniprot
proteins
pubmed
23673617
uniprot
proteins
pubmed
25388789
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26228148
uniprot
proteins
pubmed
2837653
uniprot
proteins
pubmed
28493397
uniprot
proteins
pubmed
29581253
uniprot
proteins
pubmed
30028079
uniprot
proteins
pubmed
30626964
uniprot
proteins
pubmed
3472224
uniprot
proteins
pubmed
36173861
uniprot
proteins
pubmed
3737401
uniprot
proteins
sequence_length
375
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:28493397}.
uniprot
proteins