ACTA1
entrez
58
canonical
uniprot
P68133
canonical
ensembl
ENSG00000143632
resolver
ensp
ENSP00000355645
resolver
ensp
ENSP00000541283
resolver
ensp
ENSP00000541284
resolver
ensp
ENSP00000541287
resolver
ensp
ENSP00000617138
resolver
ensp
ENSP00000617139
resolver
ensp
ENSP00000617140
resolver
enst
ENST00000366684
resolver
enst
ENST00000871224
resolver
enst
ENST00000871225
resolver
enst
ENST00000871228
resolver
enst
ENST00000947079
resolver
enst
ENST00000947080
resolver
enst
ENST00000947081
resolver
genesymbol
ACTA1
resolver
genesymbol_syn
ACTA
resolver
hgnc
HGNC:129
resolver
uniprot
P02568
resolver
uniprot
P99020
resolver
uniprot
Q5T8M9
resolver
uniprot_entry
ACTS_HUMAN
resolver
uniprot_sec
P02568
resolver
uniprot_sec
P99020
resolver
uniprot_sec
Q5T8M9
resolver
amino_acid_sequence
MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWITKQEYDEAGPSIVHRKCF
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 2A, typical, autosomal dominant (CMYO2A) [MIM:161800]: A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood. {ECO:0000269|PubMed:10508519, ECO:0000269|PubMed:11166164, ECO:0000269|PubMed:11333380, ECO:0000269|PubMed:15198992, ECO:0000269|PubMed:15236405, ECO:0000269|PubMed:15336687, ECO:0000269|PubMed:15520409, ECO:0000269|PubMed:16427282, ECO:0000269|PubMed:16945537, ECO:0000269|PubMed:17705262, ECO:0000269|PubMed:22442437, ECO:0000269|PubMed:23650303, ECO:0000269|PubMed:25635128, ECO:0000269|PubMed:25938801, ECO:0000269|PubMed:29274205}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 2B, severe infantile, autosomal recessive (CMYO2B) [MIM:620265]: An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. {ECO:0000269|PubMed:10508519, ECO:0000269|PubMed:12921789}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 2C, severe infantile, autosomal dominant (CMYO2C) [MIM:620278]: An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. {ECO:0000269|PubMed:15468086, ECO:0000269|PubMed:17387733}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]: An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable. {ECO:0000269|PubMed:25938801}. Note=The disease is caused by variants affecting the gene represented in this entry.
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.
uniprot
proteins
mass_dalton
42051
uniprot
proteins
post_translational_modification
PTM: Oxidation of Met-46 and Met-49 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 promotes actin repolymerization. {ECO:0000250|UniProtKB:P68134}.; PTM: Monomethylation at Lys-86 (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, alpha skeletal muscle, intermediate form]: N-terminal cleavage of acetylated cysteine of intermediate muscle actin by ACTMAP. {ECO:0000250|UniProtKB:P68134}.; PTM: Methylated at His-75 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-52 of one monomer and Glu-272 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
10508519
uniprot
proteins
pubmed
10958653
uniprot
proteins
pubmed
11166164
uniprot
proteins
pubmed
11333380
uniprot
proteins
pubmed
12921789
uniprot
proteins
pubmed
15198992
uniprot
proteins
pubmed
15236405
uniprot
proteins
pubmed
15336687
uniprot
proteins
pubmed
15468086
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15520409
uniprot
proteins
pubmed
16427282
uniprot
proteins
pubmed
16501887
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16945537
uniprot
proteins
pubmed
17387733
uniprot
proteins
pubmed
17705262
uniprot
proteins
pubmed
19015515
uniprot
proteins
pubmed
21908771
uniprot
proteins
pubmed
22442437
uniprot
proteins
pubmed
23650303
uniprot
proteins
pubmed
23673617
uniprot
proteins
pubmed
25635128
uniprot
proteins
pubmed
25938801
uniprot
proteins
pubmed
26228148
uniprot
proteins
pubmed
2907503
uniprot
proteins
pubmed
29274205
uniprot
proteins
pubmed
30626964
uniprot
proteins
pubmed
6190133
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
uniprot
proteins