SMARCB1
entrez
6598
canonical
uniprot
Q12824
canonical
ensembl
ENSG00000099956
resolver
ensembl
ENSG00000275837
resolver
ensp
ENSP00000340883
resolver
ensp
ENSP00000383984
resolver
ensp
ENSP00000486780
resolver
ensp
ENSP00000494049
resolver
enst
ENST00000344921
resolver
enst
ENST00000629690
resolver
genesymbol
SMARCB1
resolver
genesymbol_syn
BAF47
resolver
genesymbol_syn
INI1
resolver
genesymbol_syn
SNF5L1
resolver
hgnc
HGNC:11103
resolver
uniprot
G5E975
resolver
uniprot
O75784
resolver
uniprot
O95474
resolver
uniprot
Q17S11
resolver
uniprot
Q38GA1
resolver
uniprot
Q76N08
resolver
uniprot
Q9H836
resolver
uniprot
Q9UBH2
resolver
uniprot_entry
G5E975_HUMAN
resolver
uniprot_entry
Q9H836_HUMAN
resolver
uniprot_entry
SNF5_HUMAN
resolver
uniprot_sec
O75784
resolver
uniprot_sec
O95474
resolver
uniprot_sec
Q17S11
resolver
uniprot_sec
Q38GA1
resolver
uniprot_sec
Q76N08
resolver
uniprot_sec
Q9UBH2
resolver
amino_acid_sequence
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW
uniprot
proteins
disease_involvement
DISEASE: Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. {ECO:0000269|PubMed:9671307, ECO:0000269|PubMed:9892189}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Schwannomatosis 1 (SWN1) [MIM:162091]: An autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas. {ECO:0000269|PubMed:17357086, ECO:0000269|PubMed:18072270}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Coffin-Siris syndrome 3 (CSS3) [MIM:614608]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269|PubMed:22426308, ECO:0000269|PubMed:22726846, ECO:0000269|PubMed:23906836, ECO:0000269|PubMed:29907796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. {ECO:0000250|UniProtKB:Q9Z0H3, ECO:0000269|PubMed:10078207, ECO:0000269|PubMed:12226744, ECO:0000269|PubMed:14604992, ECO:0000269|PubMed:16267391, ECO:0000269|PubMed:16314535, ECO:0000269|PubMed:9448295}.
uniprot
proteins
mass_dalton
44141
uniprot
proteins
protein_family
SNF5 family
uniprot
proteins
pubmed
10078207
uniprot
proteins
pubmed
10208879
uniprot
proteins
pubmed
10319872
uniprot
proteins
pubmed
10365963
uniprot
proteins
pubmed
10490642
uniprot
proteins
pubmed
12016208
uniprot
proteins
pubmed
12226744
uniprot
proteins
pubmed
14604992
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15899790
uniprot
proteins
pubmed
16267391
uniprot
proteins
pubmed
16314535
uniprot
proteins
pubmed
16959763
uniprot
proteins
pubmed
17357086
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18072270
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
20111005
uniprot
proteins
pubmed
20460684
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22368283
uniprot
proteins
pubmed
22426308
uniprot
proteins
pubmed
22726846
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
23906836
uniprot
proteins
pubmed
24874740
uniprot
proteins
pubmed
26073604
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29907796
uniprot
proteins
pubmed
7801128
uniprot
proteins
pubmed
8709224
uniprot
proteins
pubmed
8895581
uniprot
proteins
pubmed
9448295
uniprot
proteins
pubmed
9671307
uniprot
proteins
pubmed
9892189
uniprot
proteins
sequence_length
385
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins