Details for Gene JAK1

GENE NAME JAK1
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000162434
UNIPROT ACCESSION NUMBER P23458
GO MOLECULAR FUNCTION ['non-membrane spanning protein tyrosine kinase activity', 'protein tyrosine kinase activity', 'ATP binding', 'protein phosphatase binding', 'CCR5 chemokine receptor binding', 'protein binding', 'metal ion binding', 'ubiquitin protein ligase binding', 'protein serine/threonine/tyrosine kinase activity', 'growth hormone receptor binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01521; hsa04151; hsa04217; hsa04380; hsa04550; hsa04621; hsa04630; hsa04658; hsa04659; hsa05140; hsa05145; hsa05152; hsa05160; hsa05161; hsa05162; hsa05163; hsa05164; hsa05165; hsa05166; hsa05167; hsa05168; hsa05169; hsa05171; hsa05200; hsa05203; hsa05212; hsa05235; R-HSA-1059683; R-HSA-110056; R-HSA-112409; R-HSA-112411; R-HSA-1169408; R-HSA-1169410; R-HSA-1266695; R-HSA-1280215; R-HSA-162582; R-HSA-1643685; R-HSA-168256; R-HSA-447115; R-HSA-449147; R-HSA-449836; R-HSA-451927; R-HSA-512988; R-HSA-5663205; R-HSA-5673001; R-HSA-5683057; R-HSA-5684996; R-HSA-6783589; R-HSA-6783783; R-HSA-6785807; R-HSA-6788467; R-HSA-877300; R-HSA-877312; R-HSA-8854691; R-HSA-8983432; R-HSA-8984722; R-HSA-8985947; R-HSA-9020558; R-HSA-9020591; R-HSA-9020956; R-HSA-9020958; R-HSA-909733; R-HSA-912526; R-HSA-912694; R-HSA-913531; R-HSA-9679191; R-HSA-9679506; hsa01521; hsa04151; hsa04217; hsa04380; hsa04550; hsa04621; hsa04630; hsa04658; hsa04659; hsa05140; hsa05145; hsa05152; hsa05160; hsa05161; hsa05162; hsa05163; hsa05164; hsa05165; hsa05166; hsa05167; hsa05168; hsa05169; hsa05171; hsa05200; hsa05203; hsa05212; hsa05235
1 combination linked to JAK1 OLI1330
1 variant linked to JAK1 JAK1:c.414C>T,
1 disease linked to JAK1 Primary immunodeficiency
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