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    H2-M1 histocompatibility 2, M region locus 1 [ Mus musculus (house mouse) ]

    Gene ID: 224756, updated on 9-Dec-2024

    Summary

    Official Symbol
    H2-M1provided by MGI
    Official Full Name
    histocompatibility 2, M region locus 1provided by MGI
    Primary source
    MGI:MGI:95913
    See related
    Ensembl:ENSMUSG00000037334 AllianceGenome:MGI:95913
    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
    Mb1; H-2M1; H2-Qa-Mb1
    Summary
    Predicted to enable several functions, including beta-2-microglobulin binding activity; peptide antigen binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib; and positive regulation of T cell mediated cytotoxicity. Predicted to be located in several cellular components, including Golgi apparatus; cell surface; and endoplasmic reticulum. Predicted to be part of MHC class I protein complex and MHC class Ib protein complex. Predicted to be active in external side of plasma membrane and extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Stevens-Johnson syndrome; asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to human HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

    See H2-M1 in Genome Data Viewer
    Location:
    17 B1; 17 19.16 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (36979922..36983089, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (36669030..36672197, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene histocompatibility 2, M region locus 9 Neighboring gene ribosomal protein L9, pseudogene 5 Neighboring gene STARR-seq mESC enhancer starr_42492 Neighboring gene predicted gene 8877 Neighboring gene predicted gene 4271

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 beta-2-microglobulin 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 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
     
    Component Evidence Code Pubs
    located_in Golgi apparatus 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 endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    histocompatibility 2, M region locus 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_177636.2NP_808304.2  histocompatibility 2, M region locus 1 precursor

      See identical proteins and their annotated locations for NP_808304.2

      Status: VALIDATED

      Source sequence(s)
      AC126245, AF539594
      Consensus CDS
      CCDS37612.1
      UniProtKB/TrEMBL
      F7CXU4, Q31200
      Related
      ENSMUSP00000040435.3, ENSMUST00000041662.3
      Conserved Domains (2) summary
      cd07698
      Location:208297
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:25202
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    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
      36979922..36983089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246400.1XP_011244702.1  histocompatibility 2, M region locus 1 isoform X1

      See identical proteins and their annotated locations for XP_011244702.1

      UniProtKB/TrEMBL
      Q85ZX2
      Conserved Domains (2) summary
      cd07698
      Location:208297
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:26202
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2