JAK1 Gene

Name	Janus kinase 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Janus kinase 1 (JAK1) functions as a pivotal signal transducer for multiple cytokine receptors that govern both immune responses and oncogenic processes. JAK1 becomes activated downstream of receptors for interferons and interleukins, thereby triggering STAT‐dependent transcriptional programs. For example, upon interferon‐γ engagement, JAK1 (in association with JAK2) initiates a cascade culminating in STAT activation and the upregulation of immune checkpoints such as PD‐L1—a process that, when impaired by inactivating mutations of JAK1, can lead to primary resistance to PD‐1 blockade therapy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In parallel, cytokines such as interleukin‐2 stimulate lymphocyte growth and differentiation through receptor complexes that engage JAK1 together with JAK3, emphasizing the kinase’s critical role in adaptive immunity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " JAK1’s activity is also subject to negative regulation; for instance, binding of the deconjugating enzyme Ubp43 to the IFN receptor subunit IFNAR2 restricts JAK1-mediated signaling, thereby modulating type I interferon responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, aberrant activation of JAK1 within the context of the IL-6/JAK/STAT3 pathway contributes to tumor-promoting inflammation by enhancing cancer cell survival, proliferation, and immune evasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, JAK1 signaling plays a broader role in regulating oncogenic processes, as evidenced by its involvement in the modulation of growth and survival pathways in colorectal cancer cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings establish JAK1 as an essential node that integrates diverse cytokine cues with downstream transcriptional outcomes, underscoring its promise as a therapeutic target in both cancer and immune-mediated diseases.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Angel Garcia-Diaz, Daniel Sanghoon Shin, Blanca Homet Moreno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interferon Receptor Signaling Pathways Regulating PD-L1 and PD-L2 Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2017.04.031"}], "href": "https://doi.org/10.1016/j.celrep.2017.04.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28494868"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28494868"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Daniel Sanghoon Shin, Jesse M Zaretsky, Helena Escuin-Ordinas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Primary Resistance to PD-1 Blockade Mediated by JAK1/2 Mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Discov (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/2159-8290.CD-16-1223"}], "href": "https://doi.org/10.1158/2159-8290.CD-16-1223"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27903500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27903500"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "S M Russell, J A Johnston, M Noguchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (1994)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.7973658"}], "href": "https://doi.org/10.1126/science.7973658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "7973658"}], "href": "https://pubmed.ncbi.nlm.nih.gov/7973658"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Oxana A Malakhova, Keun Il Kim, Jiann-Kae Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "UBP43 is a novel regulator of interferon signaling independent of its ISG15 isopeptidase activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7601149"}], "href": "https://doi.org/10.1038/sj.emboj.7601149"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16710296"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16710296"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hua Yu, Drew Pardoll, Richard Jove "}, {"type": "b", "children": [{"type": "t", "text": "STATs in cancer inflammation and immunity: a leading role for STAT3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Cancer (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrc2734"}], "href": "https://doi.org/10.1038/nrc2734"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19851315"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19851315"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Daniel E Johnson, Rachel A O'Keefe, Jennifer R Grandis "}, {"type": "b", "children": [{"type": "t", "text": "Targeting the IL-6/JAK/STAT3 signalling axis in cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Clin Oncol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrclinonc.2018.8"}], "href": "https://doi.org/10.1038/nrclinonc.2018.8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29405201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29405201"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hua Xiong, Zhi-Gang Zhang, Xiao-Qing Tian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inhibition of JAK1, 2/STAT3 signaling induces apoptosis, cell cycle arrest, and reduces tumor cell invasion in colorectal cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1593/neo.07971"}], "href": "https://doi.org/10.1593/neo.07971"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18320073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18320073"}]}]}]}
Synonyms	JAK1A, JAK1B, JTK3
Proteins	JAK1_HUMAN
NCBI Gene ID	3716
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

JAK1 has 16,426 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 142 datasets.

Click the + buttons to view associations for JAK1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

JAK1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAK1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAK1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of JAK1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of JAK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of JAK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAK1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving JAK1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of JAK1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of JAK1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of JAK1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of JAK1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of JAK1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of JAK1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with JAK1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with JAK1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with JAK1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of JAK1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of JAK1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of JAK1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with JAK1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of JAK1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing JAK1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing JAK1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with JAK1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with JAK1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing JAK1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of JAK1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with JAK1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with JAK1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with JAK1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of JAK1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by JAK1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DEPOD Substrates of Phosphatases	phosphatases that dephosphorylate JAK1 protein from the curated DEPOD Substrates of Phosphatases dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with JAK1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with JAK1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with JAK1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with JAK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with JAK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for JAK1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at JAK1 gene from the ENCODE Histone Modification Site Profiles dataset.