JAK1

JAK1 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. [provided by RefSeq, Jul 2020]

Details

Type
Protein Coding
Official Symbol
JAK1
Official Name
Janus kinase 1 [Source:HGNC Symbol;Acc:HGNC:6190]
Ensembl ID
ENSG00000162434
Bio databases IDs NCBI: 3716 Ensembl: ENSG00000162434
Aliases Janus kinase 1
Synonyms
AA960307,AIIDE,BAP004,C130039L05Rik,JAK1A,JAK1B,Janus kinase 1,JTK3,LOC105378775
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CCR chemokine receptor binding
  • ATP-binding domain
  • Jak Homology domain
  • protein-tyrosine kinase
  • Protein kinase domain
  • FERM domain
  • receptor binding domain
  • Src homology 2 (SH2) domain
  • loop domain
  • FERM domain B-lobe
  • Tyrosine kinase, catalytic domain
  • ubiquitin protein ligase binding
  • Band 4.1 homologues
  • Protein kinase (unclassified specificity)
  • JH2 domain
  • catalytic domain
  • SH2 like domain
  • Protein tyrosine and serine/threonine kinase
  • protein phosphatase binding
  • kinase-like domain
  • non-membrane spanning protein tyrosine kinase
  • FERM F1 ubiquitin-like domain
  • protein binding
  • Pleckstrin homology-like domain
  • kinase
  • Serine/Threonine protein kinases, catalytic domain
  • kinase domain
  • Protein Kinases, catalytic domain
  • Jak1 pleckstrin homology-like domain
  • tyrosine kinase domain
  • active site
  • growth hormone receptor binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • ERBB2
  • HSP90 (family)
  • JAK3
  • IL22RA1
  • IL10RB
  • KAT6A
  • PEBP1
  • PTH2R
  • DTX3L
  • LMO4
disease
  • breast cancer
  • liver cancer
  • mixed phenotype acute leukemia
  • rheumatoid arthritis
  • ulcerative colitis
  • advanced non-small cell lung cancer
  • post polycythemia vera myelofibrosis
  • T acute lymphoblastic leukemia
  • precursor B-cell acute lymphoblastic leukemia
  • primary myelofibrosis
regulated by
  • hydrogen peroxide
  • AKR1B1
  • VIPR1
  • interferon alpha
  • IL1B
  • ANXA2/S100A10
  • IL4
  • LEP
  • IFN
  • IFNG
regulates
  • p38 MAPK
  • ICAM1
  • ERBB3
  • NFkB (complex)
  • HLA-A
  • SYK
  • CDKN1A
  • CDKN1B
  • HIF1A
  • BCL2L11
role in cell
  • apoptosis
  • proliferation
  • survival
  • phosphorylation in
  • expression in
  • cellular infiltration by
  • differentiation
  • accumulation in
  • adhesion
  • migration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nuclear fraction
  • membrane fraction
  • intracellular membranes
  • Nucleus
  • Plasma Membrane
  • endosomes
  • cytosol
  • cytoplasmic face of plasma membrane
  • caveolar membranes
  • membrane rafts
  • paraspeckle-like structures
  • cytoplasmic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the JAK1 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • positive regulation of protein localization to nucleus
  • interleukin-9-mediated signaling pathway
  • tyrosine phosphorylation of STAT protein
  • JAK-STAT cascade involved in growth hormone signaling pathway
  • interleukin-4-mediated signaling pathway
  • interferon-gamma-mediated signaling pathway
  • positive regulation of homotypic cell-cell adhesion
  • interleukin-11-mediated signaling pathway
  • interleukin-2-mediated signaling pathway
  • response to antibiotic
  • protein phosphorylation
  • JAK-STAT cascade
  • type I interferon-mediated signaling pathway
  • cytokine-mediated signaling pathway
  • T-helper 17 cell lineage commitment
  • interleukin-15-mediated signaling pathway
  • cell differentiation
  • interleukin-6-mediated signaling pathway
  • intracellular signal transduction

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • cytoskeleton
  • endosome
  • focal adhesion
  • cytoplasm
  • extrinsic to internal side of plasma membrane
  • cytosol
  • plasma membrane
  • internal side of plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • ATP binding
  • protein tyrosine kinase activity
  • protein binding
  • ubiquitin protein ligase binding
  • protein phosphatase binding
  • non-membrane spanning protein tyrosine kinase activity
  • metal ion binding
  • growth hormone receptor binding
  • CCR5 chemokine receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.