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Jak1 Gene Detail
Summary
  • Symbol
    Jak1
  • Name
    Janus kinase 1
  • Synonyms
    BAP004, C130039L05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:96628
    NCBI Gene: 16451
  • Gene Overview
    MyGene.info: JAK1
Location & Maps
more
  • Sequence Map
    Chr4:101152367-101265282 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      112916 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 46.19 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    JAK1, Janus kinase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    JAK1, Janus kinase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JAK1A, JAK1B, JTK3
  • Links
    NCBI Gene ID: 3716
    neXtProt AC: NX_P23458

  • Chr Location
    1p32.3-p31.3; chr1:64833223-64966910 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Jak1 mouse models

Human Disease Mouse Models
       Systemic Lupus Erythematosus; SLE   OMIM: 152700 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 3 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    4 involving Jak1
  • Incidental Mutations
Mice homozygous for disruption of this gene die within the first 24 hours after birth.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008208 VEGA Gene Model | MGI Sequence Detail 112916 C57BL/6J ±  kb
transcript OTTMUST00000018649 VEGA | MGI Sequence Detail 4906 Not Applicable  
polypeptide OTTMUSP00000008566 VEGA | MGI Sequence Detail 1153 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    670 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 313
    Genomic 1
    cDNA 310
    Primer pair 1
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-11516, MGI:2140180, MGI:2443062, MGI:5425487
References
more
  • Summaries
    All 100
    Developmental Gene Expression 9
    Diseases 1
    Gene Ontology 12
    Phenotypes 18
  • Earliest
    J:22689 Wilks AF, et al., The application of the polymerase chain reaction to cloning members of the protein tyrosine kinase family. Gene. 1989 Dec 21;85(1):67-74
  • Latest
    J:224338 Meares GP, et al., PERK-dependent activation of JAK1 and STAT3 contributes to endoplasmic reticulum stress-induced inflammation. Mol Cell Biol. 2014 Oct;34(20):3911-25

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory