STAT1 gene

GPTKB entity

Statements (32)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:activatedBy gptkb:interferon_gamma
phosphorylation
interferon alpha
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 transcription factor
mediates cellular responses to interferons
gptkbp:HGNC_ID 11362
https://www.w3.org/2000/01/rdf-schema#label STAT1 gene
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 apoptosis
differentiation
cell growth
immune response
gptkbp:UniProtID gptkb:P42224
gptkbp:bfsParent gptkb:STAT1
gptkbp:bfsLayer 7