|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
BAF47
INI1
SNF5
|
|
gptkbp:associatedWith
|
gptkb:schwannomatosis
atypical teratoid/rhabdoid tumor
malignant rhabdoid tumor
rhabdoid tumor predisposition syndrome
|
|
gptkbp:component
|
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
|
|
gptkbp:Entrez_Gene_ID
|
6598
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
Versteege et al.
|
|
gptkbp:function
|
tumor suppression
chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:11103
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMARCB1 gene
|
|
gptkbp:inheritsFrom
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:BAF155
gptkb:BAF170
gptkb:BRM
gptkb:SS18
gptkb:BRG1
gptkb:PHF10
gptkb:ARID1A
gptkb:ARID1B
gptkb:ACTL6A
gptkb:SMARCA4
gptkb:SMARCC1
gptkb:SMARCC2
gptkb:PBRM1
DPF2
SMARCD1
SMARCD2
SMARCD3
SMARCE1
|
|
gptkbp:locatedOnChromosome
|
chromosome 22
22q11.23
|
|
gptkbp:lossOfFunctionLeadsTo
|
tumorigenesis
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
germline mutation
somatic mutation
increased cancer risk
loss of protein expression
|
|
gptkbp:OMIM
|
601607
|
|
gptkbp:orthologInFruitFly
|
snr1
|
|
gptkbp:orthologInMouse
|
Smarcb1
|
|
gptkbp:orthologInZebrafish
|
smarcb1a
|
|
gptkbp:product
|
SMARCB1 protein
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell proliferation
DNA repair
gene expression
transcription
cell cycle
|
|
gptkbp:UniProtID
|
Q12824
|
|
gptkbp:bfsParent
|
gptkb:Neurofibromatosis
gptkb:schwannomatosis
|
|
gptkbp:bfsLayer
|
7
|