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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
produces multiple transcript variants
|
|
gptkbp:associatedWith
|
immune system regulation
interferon signaling
hematopoiesis
|
|
gptkbp:discoveredBy
|
researchers studying cytokine signaling
|
|
gptkbp:encodes
|
JAK1 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000162434
3716
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Janus_kinase_1
|
|
gptkbp:function
|
encodes a tyrosine kinase involved in cytokine receptor signaling
|
|
gptkbp:HGNC_ID
|
6190
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
JAK1 gene
|
|
gptkbp:interactsWith
|
gptkb:STAT_proteins
cytokine receptors
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p31.3
|
|
gptkbp:mutationAssociatedWith
|
cancers
autoinflammatory diseases
autosomal dominant severe combined immunodeficiency
|
|
gptkbp:OMIM
|
147795
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Jak1
|
|
gptkbp:pathway
|
gptkb:JAK-STAT_signaling_pathway
interleukin signaling
interferon alpha/beta signaling
|
|
gptkbp:proteinFamily
|
gptkb:Janus_kinase_family
|
|
gptkbp:target
|
JAK inhibitors (e.g., ruxolitinib, tofacitinib)
|
|
gptkbp:UniProtID
|
gptkb:P23458
|
|
gptkbp:bfsParent
|
gptkb:JAK1
|
|
gptkbp:bfsLayer
|
8
|