JAK3 Janus kinase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JAK3provided by HGNC
Official Full Name: Janus kinase 3provided by HGNC
Primary source: HGNC:HGNC:6193
See related: Ensembl:ENSG00000105639 MIM:600173; AllianceGenome:HGNC:6193
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN
Summary: The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
Expression: Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17824782..17847982, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17958895..17982060, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17935591..17958791, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
Title: Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency.
Title: Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency.
Dependence of peripheral T-cell lymphoma on constitutively activated JAK3: Implication for JAK3 inhibition as a therapeutic approach.
Title: Dependence of peripheral T-cell lymphoma on constitutively activated JAK3: Implication for JAK3 inhibition as a therapeutic approach.
Conjoint research of WGCNA, single-cell transcriptome and structural biology reveals the potential targets of IDD development and treatment and JAK3 involvement.
Title: Conjoint research of WGCNA, single-cell transcriptome and structural biology reveals the potential targets of IDD development and treatment and JAK3 involvement.
New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous T-Cell Lymphoma.
Title: New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous T-Cell Lymphoma.
Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation.
Title: Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation.
Prognostic value of JAK3 promoter methylation and mRNA expression in clear cell renal cell carcinoma.
Title: Prognostic value of JAK3 promoter methylation and mRNA expression in clear cell renal cell carcinoma.
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Title: JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Generation of a chemical genetic model for JAK3.
Title: Generation of a chemical genetic model for JAK3.
STAT3 activation in thymic epithelial tumors: correlation with cyclin D1, JAK3, and clinical behavior.
Title: STAT3 activation in thymic epithelial tumors: correlation with cyclin D1, JAK3, and clinical behavior.

Submit: New GeneRIF Correction See all GeneRIFs (158)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency MedGen: C1833275 OMIM: 600802 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3	PubMed
Tat	tat	HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins	PubMed
	tat	HIV-1 Tat upregulates the expression of Janus kinase 3 (JAK3) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70552 (e-PCR)
- UniSTS:51228

D8S2279 (e-PCR)
- UniSTS:473907

JAK3 (e-PCR)
- UniSTS:505724

D11S3114 (e-PCR)
- UniSTS:152207

JAK3_768 (e-PCR)
- UniSTS:277398

SHGC-35252 (e-PCR)
- UniSTS:44723

D15S1390 (e-PCR)
- UniSTS:474340

SHGC-58024 (e-PCR)
- UniSTS:52455

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables growth hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	NAS Non-traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in enzyme-linked receptor protein signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in growth hormone receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in growth hormone receptor signaling pathway via JAK-STAT	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in interleukin-15-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-2-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-2-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in interleukin-4-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-4-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in interleukin-7-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-9-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of FasL production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 1 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of T-helper 17 cell lineage commitment	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of interleukin-10 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of interleukin-12 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of thymocyte apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of T cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of receptor signaling pathway via JAK-STAT	TAS Traceable Author Statement more info	PubMed
involved_in response to interleukin-15	TAS Traceable Author Statement more info	PubMed
involved_in response to interleukin-2	TAS Traceable Author Statement more info	PubMed
involved_in response to interleukin-4	IDA Inferred from Direct Assay more info	PubMed
involved_in response to interleukin-9	TAS Traceable Author Statement more info	PubMed
involved_in tyrosine phosphorylation of STAT protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasmic side of plasma membrane	IC Inferred by Curator more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	TAS Traceable Author Statement more info
is_active_in extrinsic component of cytoplasmic side of plasma membrane	IC Inferred by Curator more info	PubMed
is_active_in extrinsic component of cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tyrosine-protein kinase JAK3

Names: Janus kinase 3 (a protein tyrosine kinase, leukocyte); leukocyte Janus kinase

NP_000206.2

EC 2.7.10.2

XP_011526293.2

EC 2.7.10.2

XP_047294742.1

EC 2.7.10.2

XP_054176885.1

EC 2.7.10.2

XP_054176886.1

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007273.1 RefSeqGene

Range

4960..28210

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_77

mRNA and Protein(s)

NM_000215.4 → NP_000206.2 tyrosine-protein kinase JAK3

See identical proteins and their annotated locations for NP_000206.2

Status: REVIEWED

Source sequence(s)

AC007201, BF512748, DA405504, U09607, U31601

Consensus CDS

CCDS12366.1

UniProtKB/Swiss-Prot

P52333, Q13259, Q13260, Q13611, Q8N1E8, Q99699, Q9Y6S2

Related

ENSP00000391676.1, ENST00000458235.7

Conserved Domains (6) summary

cd10380
Location:362 → 458

SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins

smart00295
Location:39 → 200

B41; Band 4.1 homologues

cd05081
Location:817 → 1099

PTKc_Jak3_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 3

cd14208
Location:521 → 778

PTK_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 3

pfam07714
Location:822 → 1095

Pkinase_Tyr; Protein tyrosine kinase

cl17171
Location:250 → 362

PH-like; Pleckstrin homology-like domain