Jak1 Janus kinase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jak1provided by MGI
Official Full Name: Janus kinase 1provided by MGI
Primary source: MGI:MGI:96628
See related: Ensembl:ENSMUSG00000028530 AllianceGenome:MGI:96628
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: BAP004; C130039L05Rik
Summary: Enables growth hormone receptor binding activity and protein tyrosine kinase activity. Acts upstream of or within several processes, including cell surface receptor signaling pathway; cellular response to cytokine stimulus; and positive regulation of receptor signaling pathway via STAT. Predicted to be located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in T-cell acute lymphoblastic leukemia; colorectal cancer; hepatocellular carcinoma; ovarian cancer; and pancreatic adenocarcinoma. Orthologous to human JAK1 (Janus kinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 28.5), spleen adult (RPKM 26.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C6; 4 46.19 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (101009171..101122493, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (101151974..101265282, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Macrophage neogenin deficiency exacerbates myocardial remodeling and inflammation after acute myocardial infarction through JAK1-STAT1 signaling.
Title: Macrophage neogenin deficiency exacerbates myocardial remodeling and inflammation after acute myocardial infarction through JAK1-STAT1 signaling.
Trim65 attenuates isoproterenol-induced cardiac hypertrophy by promoting autophagy and ameliorating mitochondrial dysfunction via the Jak1/Stat1 signaling pathway.
Title: Trim65 attenuates isoproterenol-induced cardiac hypertrophy by promoting autophagy and ameliorating mitochondrial dysfunction via the Jak1/Stat1 signaling pathway.
Dysregulated ceramide metabolism in mouse progressive dermatitis resulting from constitutive activation of Jak1.
Title: Dysregulated ceramide metabolism in mouse progressive dermatitis resulting from constitutive activation of Jak1.
IL-32 promotes the occurrence of atopic dermatitis by activating the JAK1/microRNA-155 axis.
Title: IL-32 promotes the occurrence of atopic dermatitis by activating the JAK1/microRNA-155 axis.
Ruxolitinib suppresses liver fibrosis progression and accelerates fibrosis reversal via selectively targeting Janus kinase 1/2.
Title: Ruxolitinib suppresses liver fibrosis progression and accelerates fibrosis reversal via selectively targeting Janus kinase 1/2.
JAK1 signaling in dendritic cells promotes peripheral tolerance in autoimmunity through PD-L1-mediated regulatory T cell induction.
Title: JAK1 signaling in dendritic cells promotes peripheral tolerance in autoimmunity through PD-L1-mediated regulatory T cell induction.
Jak1/Stat3 Activation Alters Phosphate Metabolism Independently of Sex and Extracellular Phosphate Levels.
Title: Jak1/Stat3 Activation Alters Phosphate Metabolism Independently of Sex and Extracellular Phosphate Levels.
Nitric Oxide Induces a Janus Kinase-1-Dependent Inflammatory Response in Primary Murine Astrocytes.
Title: Nitric Oxide Induces a Janus Kinase-1-Dependent Inflammatory Response in Primary Murine Astrocytes.
Preclinical evaluation of JAK1/2 inhibition by ruxolitinib in a murine model of chronic graft-versus-host disease.
Title: Preclinical evaluation of JAK1/2 inhibition by ruxolitinib in a murine model of chronic graft-versus-host disease.
Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth.
Title: Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (9) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Jak1 (e-PCR), detects polymorphism
- UniSTS:143638

AA960307 (e-PCR)
- UniSTS:159262

D4Mit305 (e-PCR), detects polymorphism
- UniSTS:130097

40.MMHAP29FLF4.seq (e-PCR)
- UniSTS:124364

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CCR5 chemokine receptor binding	ISO Inferred from Sequence Orthology more info
enables growth hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables growth hormone receptor binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	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 non-membrane spanning protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase activity	TAS Traceable Author Statement more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to interleukin-3	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to interleukin-7	IDA Inferred from Direct Assay 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
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 interleukin-11-mediated signaling pathway	ISO Inferred from Sequence Orthology 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-6-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 peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of homotypic cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of receptor signaling pathway via STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of sprouting angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cell-cell junction	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to antibiotic	ISO Inferred from Sequence Orthology more info	PubMed
involved_in type I interferon-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in type II interferon-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in tyrosine phosphorylation of STAT protein	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within tyrosine phosphorylation of STAT protein	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
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
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
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: tyrosine-protein kinase JAK1

Names: JAK-1

NP_038595.1

EC 2.7.10.2

NP_666257.2

EC 2.7.10.2

XP_006502875.1

EC 2.7.10.2

XP_030109122.1

EC 2.7.10.2

XP_030109123.1

EC 2.7.10.2

XP_030109125.1

EC 2.7.10.2

XP_036019634.1

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.

mRNA and Protein(s)

NM_013567.1 → NP_038595.1 tyrosine-protein kinase JAK1 isoform 2

Status: VALIDATED

Source sequence(s)

AL627251, AL645668

UniProtKB/TrEMBL

Q3URU8

Conserved Domains (5) summary

cd05079
Location:768 → 1051

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

smart00295
Location:37 → 286

B41; Band 4.1 homologues

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

cl21453
Location:582 → 750

PKc_like; Protein Kinases, catalytic domain
NM_146145.2 → NP_666257.2 tyrosine-protein kinase JAK1 isoform 1

See identical proteins and their annotated locations for NP_666257.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK141210, AK152128, AL627251, AL645668

Consensus CDS

CCDS18393.1

UniProtKB/TrEMBL

B1ASP2, Q3URU8

Related

ENSMUSP00000099842.4, ENSMUST00000102781.10

Conserved Domains (6) summary

cd05079
Location:869 → 1152

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

cd05077
Location:582 → 845

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

pfam18377
Location:147 → 277

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:52 → 129

FERM_F1; FERM F1 ubiquitin-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

101009171..101122493 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253263.2 → XP_030109123.1 tyrosine-protein kinase JAK1 isoform X1

UniProtKB/TrEMBL

B1ASP2, Q3URU8

Conserved Domains (6) summary

cd05079
Location:869 → 1152

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

cd05077
Location:582 → 845

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

pfam18377
Location:147 → 277

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:52 → 129

FERM_F1; FERM F1 ubiquitin-like domain
XM_036163741.1 → XP_036019634.1 tyrosine-protein kinase JAK1 isoform X1

UniProtKB/TrEMBL

B1ASP2, Q3URU8

Conserved Domains (6) summary

cd05079
Location:869 → 1152

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

cd05077
Location:582 → 845

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

pfam18377
Location:147 → 277

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:52 → 129

FERM_F1; FERM F1 ubiquitin-like domain
XM_030253265.2 → XP_030109125.1 tyrosine-protein kinase JAK1 isoform X2

UniProtKB/TrEMBL

Q8K0I7

Conserved Domains (3) summary

cd05079
Location:473 → 756

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd05077
Location:186 → 449

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cl15255
Location:50 → 130

SH2; Src homology 2 (SH2) domain
XM_006502812.5 → XP_006502875.1 tyrosine-protein kinase JAK1 isoform X1

See identical proteins and their annotated locations for XP_006502875.1

UniProtKB/TrEMBL

B1ASP2, Q3URU8

Conserved Domains (6) summary

cd05079
Location:869 → 1152

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

cd05077
Location:582 → 845

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

pfam18377
Location:147 → 277

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:52 → 129

FERM_F1; FERM F1 ubiquitin-like domain
XM_030253262.2 → XP_030109122.1 tyrosine-protein kinase JAK1 isoform X1

UniProtKB/TrEMBL

B1ASP2, Q3URU8

Conserved Domains (6) summary

cd05079
Location:869 → 1152

PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd10378
Location:426 → 526

SH2_Jak1; Src homology 2 (SH2) domain in the Janus kinase 1 (Jak1) proteins

cd05077
Location:582 → 845

PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1

cd13332
Location:282 → 426

FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1

pfam18377
Location:147 → 277

FERM_F2; FERM F2 acyl-CoA binding protein-like domain

pfam18379
Location:52 → 129

FERM_F1; FERM F1 ubiquitin-like domain