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FLASH GENE
Symbol JAK1 contributors: mct/npt/pgu - updated : 02-10-2009
HGNC name Janus kinase 1
HGNC id 6190
Location 1p31.3      Physical location : 65.298.905 - 65.432.187
Synonym name Janus kinase 1 (a protein tyrosine kinase)
Synonym symbol(s) JAK1A, JAK1B, JTK3, JAK-1
EC.number 2.7.1.112, 2.7.10.1
DNA
TYPE functioning gene
STRUCTURE 133.28 kb     25 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
BBP 1p32.1 beta-amyloid binding protein precursor INADL 1p32.1-p31.3 beta-amyloid binding protein precursor FLJ10884 1p32.1 hypothetical protein FLJ10884 LOC388637 1 similar to LOC163782 protein USP1 1p32.1-p31.3 ubiquitin specific protease 1 ANGPTL3 1p31 angiopoietin-like 3 AUTL1 1p31.3 AUT-like 1, cysteine endopeptidase (S. cerevisiae) LOC199897 1p32.1 hypothetical LOC199897 LOC388638 1 LOC388638 FOXD3 1p32-p31 forkhead box D3 ALG6 1p31.3 forkhead box D3 ITGB3BP 1p31.3 integrin beta 3 binding protein (beta3-endonexin) KIAA1799 1p31.3 KIAA1799 protein PGM1 1p22.3 phosphoglucomutase 1 ROR1 1p32-p31 receptor tyrosine kinase-like orphan receptor 1 MGC35130 1p31.3 hypothetical protein MGC35130 KIAA1573 1p31.3 KIAA1573 protein KIAA1579 1p31.3 hypothetical protein FLJ10770 JAK1 1p31.3 Janus kinase 1 (a protein tyrosine kinase) LOC391045 1 similar to Solute carrier family 2, facilitated glucose transporter, member 3 (Glucose transporter type 3, brain) MRPS21P1 1p31.3 mitochondrial ribosomal protein S21 pseudogene AK3 1p31 adenylate kinase 3 DNAJC6 1pter-q31.3 DnaJ (Hsp40) homolog, subfamily C, member 6 LEPR 1p31 leptin receptor PDE4B 1p31 phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DKFZp761D221 1p31.3 hypothetical protein DKFZp761D221 FLJ40873 1p31.3 hypothetical protein FLJ40873 INSL5 1p31.1-p22.3 insulin-like 5 FLJ23129 1p31.3 hypothetical protein FLJ23129 MI-ER1 1p31.3 mesoderm induction early response 1 SLC35D1 1p32-p31 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IL23R 1p31.3-p31.2 interleukin-23 receptor IL12RB2 1p31.3-p31.2 interleukin 12 receptor, beta 2 PAI-RBP1 1p31-p22 PAI-1 mRNA-binding protein LOC391046 1 similar to heterogeneous nuclear ribonucleoprotein C isoform b; nuclear ribonucleoprotein particle C1 protein; nuclear ribonucleoprotein particle C2 protein GADD45A 1p31.2-p31.1 growth arrest and DNA-damage-inducible, alpha GNG12 1p33-p31 guanine nucleotide binding protein (G protein), gamma 12 LOC391047 1 similar to NAD-dependent deacetylase sirtuin 5 (SIR2-like protein 5) ARHI 1p31 ras homolog gene family, member I FLJ23091 1p31.2 putative NFkB activating protein 373 LOC149224 1p31.2 similar to 40S ribosomal protein S7 (S8)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
25 - 5053 - 1154 - 2009 19470474
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   highly
Lymphoid/Immunelymph node   highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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 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,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
  • 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
  • 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
    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
    ANIMAL & CELL MODELS