|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:activatedBy
|
gptkb:interferon_gamma
gptkb:interferon_alpha
phosphorylation
|
|
gptkbp:alternativeSplicing
|
produces multiple transcript variants
|
|
gptkbp:associatedWith
|
gptkb:chronic_mucocutaneous_candidiasis
autosomal dominant STAT1 deficiency
autosomal recessive STAT1 deficiency
immunodeficiency 31A
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:Signal_transducer_and_activator_of_transcription_1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000115415
6772
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:function
|
gptkb:transcription_factor
mediates cellular responses to interferons
|
|
gptkbp:HGNC_ID
|
11362
|
|
gptkbp:locatedOnChromosome
|
gptkb:2q32.2
|
|
gptkbp:memberOf
|
gptkb:STAT_protein_family
|
|
gptkbp:mutationAssociatedWith
|
increased susceptibility to infections
|
|
gptkbp:OMIM
|
600555
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Stat1
|
|
gptkbp:product
|
STAT1 protein
|
|
gptkbp:regulates
|
gptkb:immune_response
apoptosis
differentiation
cell growth
|
|
gptkbp:UniProtID
|
gptkb:P42224
|
|
gptkbp:bfsParent
|
gptkb:STAT1
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
STAT1 gene
|