|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
BAF47
INI1
SNF5
|
|
gptkbp:associatedWith
|
gptkb:schwannomatosis
malignant rhabdoid tumor
coffin-siris syndrome
|
|
gptkbp:biologicalProcess
|
chromatin binding
transcription coactivator activity
|
|
gptkbp:component
|
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:conservedIn
|
vertebrates
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
|
|
gptkbp:Entrez_Gene_ID
|
6598
ENSG00000127824
|
|
gptkbp:expressedIn
|
development
ubiquitous
|
|
gptkbp:function
|
chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMARCB1
|
|
gptkbp:interactsWith
|
gptkb:BRM
gptkb:BRG1
gptkb:ARID1A
gptkb:ARID1B
gptkb:SMARCA4
gptkb:SMARCC1
gptkb:SMARCC2
SMARCD1
SMARCE1
|
|
gptkbp:length
|
385 amino acids
|
|
gptkbp:locatedOnChromosome
|
22q11.23
|
|
gptkbp:lossLeadsTo
|
epithelioid sarcoma
atypical teratoid/rhabdoid tumor
renal medullary carcinoma
|
|
gptkbp:mutationAssociatedWith
|
germline
somatic
loss-of-function
cancer predisposition
|
|
gptkbp:OMIM
|
601607
|
|
gptkbp:orthologInMouse
|
Smarcb1
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
transcription
cell cycle
|
|
gptkbp:requires
|
tumor suppression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q12824
|
|
gptkbp:bfsParent
|
gptkb:ARID1A
|
|
gptkbp:bfsLayer
|
5
|