JAK1 Chromosome 1
Janus kinase 1
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What This Gene Does
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. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"FERM domain containing|Jak family tyrosine kinases"
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000162434
Associated Conditions (6)
Autoinflammation
immune dysregulation
and eosinophilia
JAK1-related disorder
Acute megakaryoblastic leukemia in down syndrome
Inborn genetic diseases
Key Variants
RS149968614
Conflicting classifications of pathogenicity
Autoinflammation, immune dysregulation, and eosinophilia
Health Risk
RS187043211
Conflicting classifications of pathogenicity
JAK1-related disorder, JAK1-related disorder
Health Risk
RS61735631
Conflicting classifications of pathogenicity
Autoinflammation, immune dysregulation, and eosinophilia
Health Risk
RS1655079234
Likely pathogenic
Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
Health Risk
RS869312953
Likely pathogenic
Inborn genetic diseases, Autoinflammation, immune dysregulation
Health Risk
RS1655173102
Pathogenic
Autoinflammation, immune dysregulation, and eosinophilia
Health Risk
RS2524099521
Pathogenic
Autoinflammation, immune dysregulation, and eosinophilia
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149968614 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation, immune dysregulation, and eosinophilia |
| RS187043211 | Health Risk | Conflicting classifications of pathogenicity | JAK1-related disorder, JAK1-related disorder |
| RS61735631 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation, immune dysregulation, and eosinophilia |
| RS1655079234 | Health Risk | Likely pathogenic | Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome |
| RS869312953 | Health Risk | Likely pathogenic | Inborn genetic diseases, Autoinflammation, immune dysregulation |
| RS1655173102 | Health Risk | Pathogenic | Autoinflammation, immune dysregulation, and eosinophilia |
| RS2524099521 | Health Risk | Pathogenic | Autoinflammation, immune dysregulation, and eosinophilia |