SMARCE1
entrez
6605
canonical
uniprot
Q969G3
canonical
ensembl
ENSG00000073584
resolver
ensp
ENSP00000323967
resolver
genesymbol
SMARCE1
resolver
genesymbol_syn
BAF57
resolver
hgnc
HGNC:11109
resolver
uniprot
B3KMC1
resolver
uniprot
B4DFR4
resolver
uniprot
C0IMW4
resolver
uniprot
C0IMW5
resolver
uniprot
C0IMW7
resolver
uniprot
H7C3F6
resolver
uniprot
O43539
resolver
uniprot_entry
SMCE1_HUMAN
resolver
uniprot_sec
B3KMC1
resolver
uniprot_sec
B4DFR4
resolver
uniprot_sec
C0IMW4
resolver
uniprot_sec
C0IMW5
resolver
uniprot_sec
C0IMW7
resolver
uniprot_sec
H7C3F6
resolver
uniprot_sec
O43539
resolver
amino_acid_sequence
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE
uniprot
proteins
disease_involvement
DISEASE: Meningioma (MNGMA) [MIM:607174]: A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. {ECO:0000269|PubMed:23377182, ECO:0000269|PubMed:25249420}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Coffin-Siris syndrome 5 (CSS5) [MIM:616938]: 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:23906836}. Note=The disease is caused by variants affecting the gene represented in this entry.
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. 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). Required for the coactivation of estrogen responsive promoters by SWI/SNF complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells. {ECO:0000250|UniProtKB:O54941, ECO:0000303|PubMed:12672490, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
uniprot
proteins
mass_dalton
46649
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1. {ECO:0000269|PubMed:20829358}.
uniprot
proteins
pubmed
12110891
uniprot
proteins
pubmed
12145209
uniprot
proteins
pubmed
12192000
uniprot
proteins
pubmed
12672490
uniprot
proteins
pubmed
12917342
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16051670
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20829358
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22426308
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23377182
uniprot
proteins
pubmed
23906836
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25249420
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9435219
uniprot
proteins
sequence_length
411
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:12192000}.
uniprot
proteins