Gene: JAK1
Alternate names for this Gene: AIIDE|JAK1A|JAK1B|JTK3
Gene Summary: This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 1
Location in Chromosome : 1p31.3
Description of this Gene: Janus kinase 1
Type of Gene: protein-coding
rs72920202 in
JAK1 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs72920202 in
JAK1 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs72920202 in
JAK1 gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1057519753 in
JAK1 gene and
Acute lymphoblastic leukemia with lymphomatous features
PMID 19470474 2009 JAK mutations in high-risk childhood acute lymphoblastic leukemia.
PMID 19139102 2009 Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.
PMID 21680795 2011 Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
PMID 19838194 2009 Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.
PMID 22955920 2012 Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.
PMID 20167706 2010 ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon.
rs72920202 in
JAK1 gene and
Autoimmune Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs114269697 in
JAK1 gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs2780902 in
JAK1 gene and
Diabetic Nephropathy
PMID 26305897 2015 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).
rs114269697 in
JAK1 gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs114269697 in
JAK1 gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs478665 in
JAK1 gene and
Estradiol level result
PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
rs478665 in
JAK1 gene and
Estradiol measurement
PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
rs56818621 in
JAK1 gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1057519753 in
JAK1 gene and
Leukemia, Acute, X-Linked
PMID 19139102 2009 Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.
rs1057519753 in
JAK1 gene and
Leukemia, Myelocytic, Acute
PMID 21436584 2011 Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression.
PMID 21680795 2011 Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs3818753 in
JAK1 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs869312953 in
JAK1 gene and
Multiple congenital anomalies
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
rs1057519753 in
JAK1 gene and
Polycythemia Vera
PMID 16239216 2005 JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor.
rs3818753 in
JAK1 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs11208552 in
JAK1 gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.