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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:101009564-101122479 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 46.19 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2358 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96628
 protein coding gene Chr4:101009171-101122493 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028491
 protein coding gene Chr4:101432167-101558535 (-)
A/J MGP_AJ_G0028454
 protein coding gene Chr4:97897713-98012122 (-)
AKR/J MGP_AKRJ_G0028401
 protein coding gene Chr4:100259711-100376705 (-)
BALB/cJ MGP_BALBcJ_G0028472
 protein coding gene Chr4:98098722-98212261 (-)
C3H/HeJ MGP_C3HHeJ_G0028185
 protein coding gene Chr4:101059036-101180839 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028911
 protein coding gene Chr4:105275418-105396503 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026203
 protein coding gene Chr4:93184327-93296438 (-)
CAST/EiJ MGP_CASTEiJ_G0027625
 protein coding gene Chr4:98852936-98967674 (-)
CBA/J MGP_CBAJ_G0028154
 protein coding gene Chr4:108584692-108715548 (-)
DBA/2J MGP_DBA2J_G0028304
 protein coding gene Chr4:97596251-97712052 (-)
FVB/NJ MGP_FVBNJ_G0028271
 protein coding gene Chr4:96431627-96544649 (-)
LP/J MGP_LPJ_G0028404
 protein coding gene Chr4:101734951-101856679 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028299
 protein coding gene Chr4:114136472-114255686 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028949
 protein coding gene Chr4:100511677-100637416 (-)
PWK/PhJ MGP_PWKPhJ_G0027350
 protein coding gene Chr4:95744039-95877396 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027172
 protein coding gene Chr4:97970418-98086037 (-)
WSB/EiJ MGP_WSBEiJ_G0027703
 protein coding gene Chr4:100679293-100801004 (-)



Homology
more
  • Human Ortholog
    JAK1, Janus kinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    JAK1, Janus kinase 1
  • Synonyms
    AIIDE, JAK1A, JAK1B, JTK3
  • Links
    NCBI Gene ID: 3716
    neXtProt AC: NX_P23458
    UniProt: P23458

  • Chr Location
    1p31.3; chr1:64833223-65067754 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Jak1 mouse models; 9 with human JAK1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    67 phenotypes from 4 alleles in 7 genetic backgrounds
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruption of this gene die within the first 24 hours after birth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    59
  • GO References
    19
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    904
  • Tissues
    81
  • cDNA Data
    311
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028530 Ensembl Gene Model | MGI Sequence Detail 112916 C57BL/6J ±  kb
    transcript ENSMUST00000102781 Ensembl | MGI Sequence Detail 4906 Not Applicable  
    polypeptide ENSMUSP00000099842 Ensembl | MGI Sequence Detail 1153 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 316
      Genomic 1
      cDNA 311
      Primer pair 3
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11516, MGI:2140180, MGI:2443062, MGI:5425487
    References
    more
    • Summaries
      All 162
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 19
      Phenotypes 35
    • 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:349756 Shrestha H, et al., The Janus kinase 1 is critical for pancreatic cancer initiation and progression. Cell Rep. 2024 May 28;43(5):114202
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory