Jak3 Janus kinase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jak3provided by MGI
Official Full Name: Janus kinase 3provided by MGI
Primary source: MGI:MGI:99928
See related: Ensembl:ENSMUSG00000031805 AllianceGenome:MGI:99928
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: fae; wil
Summary: Enables protein tyrosine kinase activity. Involved in several processes, including negative regulation of T-helper 1 cell differentiation; negative regulation of macromolecule biosynthetic process; and regulation of apoptotic process. Acts upstream of or within several processes, including cell surface receptor signaling pathway; peptidyl-tyrosine phosphorylation; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoskeleton; endomembrane system; and membrane. Predicted to be active in cytosol. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and severe combined immunodeficiency. Orthologous to human JAK3 (Janus kinase 3). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in testis adult (RPKM 193.9), spleen adult (RPKM 34.5) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.43 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (72129027..72143221)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (71676383..71690577)

Chromosome 8 - NC_000074.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel intramolecular negative regulation of mouse Jak3 activity by tyrosine 820.
Title: A novel intramolecular negative regulation of mouse Jak3 activity by tyrosine 820.
PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression.
Title: PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression.
Selective inhibition of JAK3 signaling is sufficient to reverse alopecia areata.
Title: Selective inhibition of JAK3 signaling is sufficient to reverse alopecia areata.
Janus Kinase 3 Deficiency Promotes Vascular Reendothelialization-Brief Report.
Title: Janus Kinase 3 Deficiency Promotes Vascular Reendothelialization-Brief Report.
Endothelial Jak3 expression enhances pro-hematopoietic angiocrine function in mice.
Title: Endothelial Jak3 expression enhances pro-hematopoietic angiocrine function in mice.
Supraphysiological Levels of IL-2 in Jak3-Deficient Mice Promote Strong Proliferative Responses of Adoptively Transferred Naive CD8(+) T Cells.
Title: Supraphysiological Levels of IL-2 in Jak3-Deficient Mice Promote Strong Proliferative Responses of Adoptively Transferred Naive CD8(+) T Cells.
Here we show that CRISPR/Cas9-mediated inactivation of Suz12 cooperates with mutant JAK3 to drive T-cell transformation and T-cell acute lymphoblastic leukemia development
Title: Suz12 inactivation cooperates with JAK3 mutant signaling in the development of T-cell acute lymphoblastic leukemia.
Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models.
Title: Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models.
Blockade of JAK1-JAK3 accelerated, and selective inactivation of STAT3 decelerated differentiation of progenitor cells.
Title: Particular Role of JAK/STAT3 Signaling in Functional Control of Mesenchymal Progenitor Cells.
Study investigated the effect of Jak3 signaling on differentiation from nestin progenitor cells using E13.5 spinal progenitor cell cultures. Results indicated that neuronal and microglial cell differentiation was regulated primarily by Jak3 signaling and the developing neurons and neurite outgrowth might also be regulated by Jak3-dependent microglial activity.
Title: Jak kinase 3 signaling in microgliogenesis from the spinal nestin+ progenitors in both development and response to injury.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (11) 1 citation
Endonuclease-mediated (4) 1 citation
Spontaneous (2) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Jak3 (e-PCR), detects polymorphism
- UniSTS:143641

Jak3 (e-PCR), detects polymorphism
- UniSTS:143642

Gene Ontology Provided by MGI

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 non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell homeostasis	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within enzyme-linked receptor protein signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in growth hormone receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in interleukin-15-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in interleukin-2-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in interleukin-4-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in interleukin-9-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lymph node development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of FasL production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T-helper 1 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of dendritic cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-12 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of thymocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of activated T cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of activated T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric-oxide synthase biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
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	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-4	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-4	TAS Traceable Author Statement more info	PubMed
involved_in response to interleukin-9	TAS Traceable Author Statement more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 endomembrane system	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tyrosine-protein kinase JAK3

NP_001177759.1

EC 2.7.10.2

NP_034719.2

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.

mRNA and Protein(s)

NM_001190830.1 → NP_001177759.1 tyrosine-protein kinase JAK3

See identical proteins and their annotated locations for NP_001177759.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC162033, AK164520

Consensus CDS

CCDS22403.1

UniProtKB/Swiss-Prot

A2RRI3, Q0D2M8, Q61746, Q61747, Q62137, Q8BTY6, Q8BYU2

UniProtKB/TrEMBL

A0A0R4J0R7

Related

ENSMUSP00000105640.4, ENSMUST00000110013.10

Conserved Domains (5) summary

smart00295
Location:41 → 246

B41; Band 4.1 homologues

cd13334
Location:250 → 359

FERM_C_JAK3; FERM domain C-lobe of Janus kinase (JAK) 3

pfam07714
Location:818 → 1091

Pkinase_Tyr; Protein tyrosine kinase

cl15255
Location:359 → 455

SH2; Src homology 2 (SH2) domain

cl21453
Location:813 → 1095

PKc_like; Protein Kinases, catalytic domain
NM_010589.6 → NP_034719.2 tyrosine-protein kinase JAK3

See identical proteins and their annotated locations for NP_034719.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and shares its terminal exon with the insulin-like 3 gene(GeneID:16336). Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC162033, AK038268, AW456897

Consensus CDS

CCDS22403.1

UniProtKB/Swiss-Prot

A2RRI3, Q0D2M8, Q61746, Q61747, Q62137, Q8BTY6, Q8BYU2

UniProtKB/TrEMBL

A0A0R4J0R7

Related

ENSMUSP00000060073.8, ENSMUST00000051995.14

Conserved Domains (5) summary

smart00295
Location:41 → 246

B41; Band 4.1 homologues

cd13334
Location:250 → 359

FERM_C_JAK3; FERM domain C-lobe of Janus kinase (JAK) 3

pfam07714
Location:818 → 1091

Pkinase_Tyr; Protein tyrosine kinase

cl15255
Location:359 → 455

SH2; Src homology 2 (SH2) domain

cl21453
Location:813 → 1095

PKc_like; Protein Kinases, catalytic domain