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SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; integrase interactor 1 protein; SNF5 homolog; hSNF5; BRG1-associated factor 47; BAF47 (SMARCB1, BAF47, INI1, SNF5L1)
Function:
- core component of the BAF complex
- stimulates in vitro remodeling activity of SMARCA4
- role in activation of CSF1 promoter
- component of the npBAF complex & the nBAF complex, involved in a switch from a neural stem/progenitord to post-mitotic neurons
- component of the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor
- plays a key role in cell-cycle control & causes cell cycle arrest in G0/G1
- phosphorylated upon DNA damage, probably by ATM or ATR
- binds to double-stranded DNA
- interacts with MYK & MAEL
- interacts with PPP1R15A
Structure: belongs to the SNF5 family
Compartment: nucleus
Alternative splicing: named isoforms=2; INI1A, INI1B
Pathology:
- defects in SMARCB1 are a cause of
a) malignant rhabdoid tumor
b) schwannomatosis
- frequently inactivated in epithelioid sarcomas
- binds tightly to HIV-1 integrase in vitro & stimulates its DNA-joining activity
- interacts with human papillomavirus 18 E1 protein to stimulates its viral replication
- interacts with Epstein-Barr virus protein EBNA-2
General
nuclear protein
phosphoprotein
SWI/SNF-related matrix-associated actin dependent regulator of chromatin subfamily B
Properties
SIZE: entity length = 385 aa
MW = 44 kD
COMPARTMENT: cell nucleus
MOTIF: binding site
SITE: 106-183
FOR-BINDING-OF: deoxyribonucleic acid (DNA)
MOTIF: Ser phosphorylation site {S129}
binding site
SITE: 183-243
FOR-BINDING-OF: HIV-1 INTEGRASE
tandem repeats {186-319}
MOTIF: consensus repeat {186-245}
binding site
SITE: 186-245
FOR-BINDING-OF: myc protein family
consensus repeat {259-319}
PPP1R15A interaction {304-318}
Database Correlations
OMIM correlations
MORBIDMAP 601607
UniProt Q12824
Pfam PF04855
Entrez Gene 6598
Kegg hsa:6598
References
- UniProt :accession Q12824
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/SMARCB1ID169.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SMARCB1
- NIEHS-SNPs
http://egp.gs.washington.edu/data/smarcb1/
Component-of
SWI/SNF-B (PBAF) chromatin remodeling complex