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H2-K1 Gene Detail
Summary
  • Symbol
    H2-K1
  • Name
    histocompatibility 2, K1, K region
  • Synonyms
    H-2K
  • Feature Type
    protein coding gene
  • IDs
    MGI:95904
    NCBI Gene: 14972
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34214986-34219316 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 17.98 cM
  • Mapping Data
    60 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1 from dbSNP Build 142
  • Strain Annotations
    5
  • PCR
    1
  • RFLP
    23
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95904
 protein coding gene Chr17:34214986-34219321 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ MGP_BALBcJ_G0023514
 protein coding gene Chr17:32931546-35335013 (-)
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0023956
 protein coding gene Chr17:35236550-35247973 (-)
CAROLI/EiJ no annotation
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J MGP_LPJ_G0023459
 protein coding gene Chr17:34234085-34242374 (-)
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0022526
 protein coding gene Chr17:31089699-31090764 (-)
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
  • Vertebrate Orthologs
    23
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HLA-A, major histocompatibility complex, class I, A
  • Synonyms
    HLAA
  • Links
    NCBI Gene ID: 3105
    neXtProt AC: NX_P04439
    UniProt: P04439

  • Chr Location
    6p22.1; chr6:29941260-29949572 (+)  GRCh38
  • Human Ortholog
    HLA-B, major histocompatibility complex, class I, B
  • Synonyms
    AS, B-4901, HLAB
  • Links
    NCBI Gene ID: 3106
    neXtProt AC: NX_P01889
    UniProt: P01889

  • Chr Location
    6p21.33; chr6:31353872-31367067 (-)  GRCh38
  • Human Ortholog
    HLA-C, major histocompatibility complex, class I, C
  • Synonyms
    D6S204, HLAC, HLA-JY3, HLC-C, MHC, PSORS1
  • Links
    NCBI Gene ID: 3107
    neXtProt AC: NX_P10321
    UniProt: P10321

  • Chr Location
    6p21.33; chr6:31268749-31272130 (-)  GRCh38
  • Human Ortholog
    HLA-E, major histocompatibility complex, class I, E
  • Synonyms
    HLA-6.2, QA1
  • Links
    NCBI Gene ID: 3133
    neXtProt AC: NX_P13747
    UniProt: P13747

  • Chr Location
    6p22.1; chr6:30489509-30494194 (+)  GRCh38
  • Human Ortholog
    HLA-F, major histocompatibility complex, class I, F
  • Synonyms
    CDA12, HLA-5.4, HLA-CDA12, HLAF
  • Links
    NCBI Gene ID: 3134
    neXtProt AC: NX_P30511
    UniProt: P30511

  • Chr Location
    6p22.1; chr6:29722775-29738532 (+)  GRCh38
  • Human Ortholog
    HLA-G, major histocompatibility complex, class I, G
  • Synonyms
    MHC-G
  • Links
    NCBI Gene ID: 3135
    neXtProt AC: NX_P17693
    UniProt: P17693

  • Chr Location
    6p22.1; chr6:29826474-29831125 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with H2-K1 mouse models; 45 with human HLA-A,HLA-B,HLA-C,HLA-E,HLA-G associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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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
    20 phenotypes from 5 alleles in 5 genetic backgrounds
    21 phenotypes from multigenic genotypes
    164 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 disruptions of this gene display T-cell abnormalities and abnormal susceptibility to various viral infections.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    83
  • GO References
    15
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
    741
  • Tissues
    24
  • cDNA Data
    22
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14972 NCBI Gene Model | MGI Sequence Detail 4331 C57BL/6J ±  kb
    transcript NM_001403362 RefSeq | MGI Sequence Detail 1657 ZRU/MplStud  
    polypeptide P04223 UniProt | EBI | MGI Sequence Detail 369 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 137
      Genomic 85
      cDNA 26
      Primer pair 5
      Other 21

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-10388, MGD-MRK-10500
    References
    more
    • Summaries
      All 330
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 15
      Phenotypes 164
    • Earliest
      J:23806 Lilly F, et al., Genetic basis of susceptibility to viral leukaemogenesis. Lancet. 1964-12-05;2:1207-9
    • Latest
      J:354545 Dong H, et al., Targeting PRMT9-mediated arginine methylation suppresses cancer stem cell maintenance and elicits cGAS-mediated anticancer immunity. Nat Cancer. 2024 Apr;5(4):601-624
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory