ACTC1
entrez
70
canonical
uniprot
P68032
canonical
ensembl
ENSG00000159251
resolver
ensp
ENSP00000290378
resolver
ensp
ENSP00000518905
resolver
ensp
ENSP00000518911
resolver
ensp
ENSP00000538464
resolver
ensp
ENSP00000623747
resolver
enst
ENST00000290378
resolver
enst
ENST00000713610
resolver
enst
ENST00000713615
resolver
enst
ENST00000868405
resolver
enst
ENST00000953688
resolver
genesymbol
ACTC1
resolver
genesymbol_syn
ACTC
resolver
hgnc
HGNC:143
resolver
uniprot
B3KPP5
resolver
uniprot
P04270
resolver
uniprot_entry
ACTC_HUMAN
resolver
uniprot_entry
B3KPP5_HUMAN
resolver
uniprot_sec
P04270
resolver
amino_acid_sequence
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:9563954}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10330430, ECO:0000269|PubMed:10966831, ECO:0000269|PubMed:14729850, ECO:0000269|PubMed:18403758}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269|PubMed:17947298}. 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
42019
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:P68033}.; PTM: Monomethylation at Lys-86 (K86me1) 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 cardiac muscle 1, intermediate form]: N-terminal cleavage of acetylated cysteine of intermediate muscle actin by ACTMAP. {ECO:0000250|UniProtKB:P68033}.; 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
10330430
uniprot
proteins
pubmed
10966831
uniprot
proteins
pubmed
14729850
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17947298
uniprot
proteins
pubmed
18403758
uniprot
proteins
pubmed
19015515
uniprot
proteins
pubmed
23673617
uniprot
proteins
pubmed
26228148
uniprot
proteins
pubmed
30626964
uniprot
proteins
pubmed
6310553
uniprot
proteins
pubmed
9563954
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
uniprot
proteins