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    H2-K1 histocompatibility 2, K1, K region [ Mus musculus (house mouse) ]

    Gene ID: 14972, updated on 11-Apr-2024

    Summary

    Official Symbol
    H2-K1provided by MGI
    Official Full Name
    histocompatibility 2, K1, K regionprovided by MGI
    Primary source
    MGI:MGI:95904
    See related
    Ensembl:ENSMUSG00000061232 AllianceGenome:MGI:95904
    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
    K-f; H-2K; H2-K; H2-D1; H-2K(d)
    Summary
    Enables MHC class I protein binding activity and peptide antigen binding activity. Acts upstream of or within several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; antigen processing and presentation of exogenous peptide antigen via MHC class I; and positive regulation of T cell mediated cytotoxicity. Located in external side of plasma membrane. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and retina. Used to study myositis. Human ortholog(s) of this gene implicated in several diseases, including asthma (multiple); autoimmune disease (multiple); eye disease (multiple); human immunodeficiency virus infectious disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-A (major histocompatibility complex, class I, A); HLA-E (major histocompatibility complex, class I, E); and HLA-F (major histocompatibility complex, class I, F). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum adult (RPKM 724.0), mammary gland adult (RPKM 712.4) and 17 other tissues See more
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    Genomic context

    Location:
    17 B1; 17 17.98 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (34214986..34219316, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (33996012..34000619, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2483 Neighboring gene STARR-seq mESC enhancer starr_42421 Neighboring gene predicted gene, 53998 Neighboring gene expressed sequence AA388235 Neighboring gene STARR-positive B cell enhancer ABC_E5593 Neighboring gene predicted gene, 53999 Neighboring gene Casitas B-lineage lymphoma pseudogene Neighboring gene ring finger protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC7052, MGC184092

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 14-3-3 protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables CD8 receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables MHC class I protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables T cell receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables TAP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables TAP complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables TAP1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables TAP2 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-2-microglobulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables natural killer cell lectin-like receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide antigen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide antigen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-folding chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antigen processing and presentation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within antigen processing and presentation of exogenous peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within antigen processing and presentation of peptide antigen via MHC class I IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within inner ear development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi medial cisterna ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of MHC class I peptide loading complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of MHC class I protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of MHC class Ib protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cis-Golgi network membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum exit site ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    H-2 class I histocompatibility antigen, K-W28 alpha chain
    Names
    H-2 class I histocompatibility antigen, K-B alpha chain
    H-2 class I histocompatibility antigen, K-D alpha chain
    H-2 class I histocompatibility antigen, K-K alpha chain
    H-2 class I histocompatibility antigen, K-Q alpha chain
    H-2K(B)
    H-2K(K)
    H-2K(Q)
    MHC H2-K transplantation antigen
    MHC class I H2-K-b-alpha-2 cell surface glycoprotein
    MHC class I antigen
    MHC class I heavy chain H2-K
    MHC class I heavy chain heavy chain
    MHC class I heavy chain maturation peptide
    MHC class II antigen D
    MHC class II antigen K
    class I major histocompatibility antigen H-2Kd
    histocompatibility 2, K region, promoter 1

    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)

    1. NM_001001892.3NP_001001892.2  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_001001892.2

      Status: VALIDATED

      Source sequence(s)
      CR974462
      Consensus CDS
      CCDS50069.1
      UniProtKB/Swiss-Prot
      P01901
      UniProtKB/TrEMBL
      Q3TVI9, Q7JJ15
      Related
      ENSMUSP00000025181.11, ENSMUST00000025181.18
      Conserved Domains (3) summary
      cd07698
      Location:204296
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:22200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:335359
      MHC_I_C; MHC_I C-terminus
    2. NM_001347346.2NP_001334275.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      CR974462
      Consensus CDS
      CCDS84295.1
      UniProtKB/TrEMBL
      Q3TH01, W5XHY0
      Related
      ENSMUSP00000134004.2, ENSMUST00000172912.8
    3. NM_001403362.1NP_001390291.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      CR974462
    4. NM_001403363.1NP_001390292.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      CR974462

    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

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      34214986..34219316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249505.2XP_030105365.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X2

      Related
      ENSMUST00000114311.11
      Conserved Domains (2) summary
      cd07698
      Location:204296
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:23200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    2. XM_006523678.5XP_006523741.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X7

      See identical proteins and their annotated locations for XP_006523741.1

      UniProtKB/TrEMBL
      W5XHY0
      Conserved Domains (3) summary
      cd07698
      Location:224316
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:43220
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:355377
      MHC_I_C; MHC_I C-terminus
    3. XM_006523677.5XP_006523740.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X6

      See identical proteins and their annotated locations for XP_006523740.1

      UniProtKB/TrEMBL
      W5XHY0
      Conserved Domains (3) summary
      cd07698
      Location:224316
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:43220
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:360382
      MHC_I_C; MHC_I C-terminus
    4. XM_006523674.5XP_006523737.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X3

      See identical proteins and their annotated locations for XP_006523737.1

      UniProtKB/TrEMBL
      Q3TVI9
      Conserved Domains (3) summary
      cd07698
      Location:224316
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:43220
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:360382
      MHC_I_C; MHC_I C-terminus
    5. XM_006523673.5XP_006523736.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X1

      See identical proteins and their annotated locations for XP_006523736.1

      Conserved Domains (2) summary
      cd07698
      Location:224316
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:43220
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    6. XM_017317259.3XP_017172748.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X9

      UniProtKB/TrEMBL
      W5XHY0
      Conserved Domains (3) summary
      cd07698
      Location:204296
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:23200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:335357
      MHC_I_C; MHC_I C-terminus
    7. XM_017317258.3XP_017172747.1  H-2 class I histocompatibility antigen, K-W28 alpha chain isoform X4

      UniProtKB/TrEMBL
      W5XHY0
      Conserved Domains (3) summary
      cd07698
      Location:224316
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:43220
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:355377
      MHC_I_C; MHC_I C-terminus