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FLASH GENE
Symbol JAK1 contributors: mct/npt/pgu - updated : 03-06-2020
HGNC name Janus kinase 1
HGNC id 6190
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminus region (JH6, JH7) critical for receptor binding and signal transduction
  • a FERM domain
  • a protein kinase domain
  • a SH2 domain
  • a conserved JAK binding site for receptor peptides
  • a C terminal kinase domain, JH1, lacking SH2 or SH3 motif, JH2, a pseudokinase domain tandemly linked to the N site of the former and five more JAK homology domain (JH)
  • HOMOLOGY
    interspecies homolog to murine Fd-22
    intraspecies paralog to JAK2
    paralog to JAK3
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • JAK subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text possibly membrane anchored
    basic FUNCTION
  • tyrosine kinase, non receptor type, class III, involved in signal transduction of several hematopoietic cytokine receptors
  • playing a dual role with STAT1 and STAT3 in myogenic differentiation, participating in myoblast proliferation and actively repressing differentiation
  • ROCK1 and JAK1 signaling cooperate to control actomyosin contractility in tumor cells and stroma
  • nuclear import of JAK1 is essential for the optimal fitness of activated B-cell-like diffuse large B-cell lymphoma (ABC DLBCL) cells
  • is a critical effector of pro-inflammatory cytokine signaling and plays important roles in immune function, while abnormal JAK1 activity has been linked to immunological and neoplastic diseases
  • essential role for JAK1 in hematopoietic stem cells (HSCs) homeostasis and stress responses
  • JAK1 is a key factor involved in the regulation of primordial follicle activation and maintenance of the ovarian reserve
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    interferon alpha-beta-gamma signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • mediating activation of STAT proteins (STAT5)
  • associating with gamma chain of cytokine receptors
  • binding and inhibited by SOCS1
  • cooperation between PTPN2 deletion and activating JAK1 gene mutations in T-cell acute lymphoblastic leukemia
  • TJP2 associates with JAK1 in vascular smooth muscle cells via TJP2 N-terminal fragment, and JAK1 serves for tyrosine phosphorylation of TJP2 in VSMC
  • NK cell activation and secretion of IFNG1 results in activation of JAK1, JAK2 and STAT1 in tumor cells, resulting in rapid up-regulation of CD274 expression
  • CISH interacted with the tyrosine kinase JAK1, inhibiting its enzymatic activity and targeting JAK for proteasomal degradation (
  • SOCS1 negatively regulates IFNG1 signaling pathway (and other pathways) by directly inhibiting JAK1, JAK2
  • CLDN10 enhanced the metastatic phenotype of osteosarcoma (OS) cells via the activation of the JAK1/STAT1 signaling pathway
  • cell & other
    REGULATION
    activated by cytokine receptors gamma chain
    Other regulated by phosphorylation of tyrosine residues in the putative activation loops of the kinase domain
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in pediatric acute lymphoblastic leukemia
    tumoral somatic mutation      
    may contribute to the tumor development in liver cancer
    tumoral     --low  
    in breast invasive carcinoma compared with adjacent normal tissues
    constitutional       loss of function
    loss of JAK1 in NK cells drives innate immune deficiency
    tumoral somatic mutation      
    recurrent JAK1 truncating mutations that could contribute to tumor immune evasion in gynecologic cancers, especially in endometrial cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL
    cancerskin 
    JAK1 is a potential therapeutic target for melanoma treatment
    ANIMAL & CELL MODELS