ACTL6A
entrez
86
canonical
uniprot
O96019
canonical
ensembl
ENSG00000136518
resolver
ensp
ENSP00000376430
resolver
ensp
ENSP00000394014
resolver
ensp
ENSP00000397552
resolver
genesymbol
ACTL6A
resolver
genesymbol_syn
BAF53
resolver
genesymbol_syn
BAF53A
resolver
genesymbol_syn
INO80K
resolver
hgnc
HGNC:24124
resolver
uniprot
B3KMN1
resolver
uniprot
D3DNR9
resolver
uniprot
Q8TAE5
resolver
uniprot
Q9BVS8
resolver
uniprot
Q9H0W6
resolver
uniprot_entry
ACL6A_HUMAN
resolver
uniprot_sec
B3KMN1
resolver
uniprot_sec
D3DNR9
resolver
uniprot_sec
Q8TAE5
resolver
uniprot_sec
Q9BVS8
resolver
uniprot_sec
Q9H0W6
resolver
amino_acid_sequence
MSGGVYGGDEVGALVFDIGSYTVRAGYAGEDCPKVDFPTAIGMVVERDDGSTLMEIDGDKGKQGGPTYYIDTNALRVPRENMEAISPLKNGMVEDWDSFQAILDHTYKMHVKSEASLHPVLMSEAPWNTRAKREKLTELMFEHYNIPAFFLCKTAVLTAFANGRSTGLILDSGATHTTAIPVHDGYVLQQGIVKSPLAGDFITMQCRELFQEMNIELVPPYMIASKEAVREGSPANWKRKEKLPQVTRSWHNYMCNCVIQDFQASVLQVSDSTYDEQVAAQMPTVHYEFPNGYNCDFGAERLKIPEGLFDPSNVKGLSGNTMLGVSHVVTTSVGMCDIDIRPGLYGSVIVAGGNTLIQSFTDRLNRELSQKTPPSMRLKLIANNTTVERRFSSWIGGSILASLGTFQQMWISKQEYEEGGKQCVERKCP
uniprot
proteins
disease_involvement
DISEASE: Note=ACTL6A mutations have been found in patients with intellectual disability of variable severity, developmental delay, dysmorphic features and digit abnormalities. Additional features may include genitourinary and cardiac defects. The disease phenotype resembles Coffin-Siris syndrome and brachymorphism-onychodysplasia-dysphalangism syndrome. {ECO:0000269|PubMed:28649782}.
uniprot
proteins
function
FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:29374058, ECO:0000303|PubMed:15196461, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
uniprot
proteins
mass_dalton
47461
uniprot
proteins
protein_family
Actin family
uniprot
proteins
pubmed
10380635
uniprot
proteins
pubmed
10966108
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11509179
uniprot
proteins
pubmed
11839798
uniprot
proteins
pubmed
12963728
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14966270
uniprot
proteins
pubmed
15196461
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16230350
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18026119
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
18922472
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21303910
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28533407
uniprot
proteins
pubmed
28649782
uniprot
proteins
pubmed
29374058
uniprot
proteins
pubmed
9845365
uniprot
proteins
sequence_length
429
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18026119}.
uniprot
proteins