|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 3
BAF53A
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:biologicalProcess
|
cell differentiation
regulation of transcription
ATP-dependent chromatin remodeler activity
|
|
gptkbp:component
|
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:encodes
|
Actin-like protein 6A
|
|
gptkbp:Entrez_Gene_ID
|
86
ENSG00000136518
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:function
|
chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACTL6A
|
|
gptkbp:interactsWith
|
gptkb:ARID1A
gptkb:SMARCA4
gptkb:SMARCB1
gptkb:SMARCC1
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3q26.33
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
neurodevelopmental disorders
|
|
gptkbp:OMIM
|
604958
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Actl6a
|
|
gptkbp:proteinFamily
|
actin family
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
O96019
|
|
gptkbp:bfsParent
|
gptkb:SMARCA4
gptkb:SMARCC1
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:bfsLayer
|
6
|