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    H2-Q1 histocompatibility 2, Q region locus 1 [ Mus musculus (house mouse) ]

    Gene ID: 15006, updated on 11-Apr-2024

    Summary

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    Official Symbol
    H2-Q1provided by MGI
    Official Full Name
    histocompatibility 2, Q region locus 1provided by MGI
    Primary source
    MGI:MGI:95928
    See related
    Ensembl:ENSMUSG00000079507 AllianceGenome:MGI:95928
    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
    Q1; Q1b; Q1d; Q1k; Qa1; Qa-1; H-2Q1; H2-D1; Qed-1
    Summary
    Predicted to enable several functions, including 14-3-3 protein binding activity; TAP binding activity; and signaling receptor binding activity. Acts upstream of or within antigen processing and presentation. Predicted to be located in several cellular components, including bounding membrane of organelle; 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. Is expressed in brain; small intestine; and thymus. 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 several human genes including HLA-E (major histocompatibility complex, class I, E); HLA-F (major histocompatibility complex, class I, F); and HLA-G (major histocompatibility complex, class I, G). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in small intestine adult (RPKM 87.1), duodenum adult (RPKM 74.8) and 16 other tissues See more
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    Genomic context

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    See H2-Q1 in Genome Data Viewer
    Location:
    17 B1; 17 18.63 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35539503..35547118)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (35320525..35328142)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42451 Neighboring gene vacuolar protein sorting 52 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E11643 Neighboring gene vacuolar protein sorting 52 pseudogene Neighboring gene Nhp2 non-histone chromosome protein 2-like 1 pseudogene Neighboring gene histocompatibility 2, Q region locus 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Down-regulation of major histocompatibility complex Q1b gene expression by 2,3,7,8-tetrachlorodibenzo-p-dioxin. Dong L, et al. J Biol Chem, 1997 Nov 21. PMID 9368027
    2. Host Expression of the CD8 Treg/NK Cell Restriction Element Qa-1 is Dispensable for Transplant Tolerance. Stocks BT, et al. Sci Rep, 2017 Sep 11. PMID 28894277, Free PMC Article
    3. Transporters associated with antigen processing (TAP)-independent presentation of soluble insulin to alpha/beta T cells by the class Ib gene product, Qa-1(b). Tompkins SM, et al. J Exp Med, 1998 Sep 7. PMID 9730897, Free PMC Article
    4. The class I-b molecule Qa-1 forms heterodimers with H-2Ld and a novel 50-kD glycoprotein encoded centromeric to I-E beta. Wolf PR, et al. J Exp Med, 1995 Feb 1. PMID 7836920, Free PMC Article
    5. Recognition of alternate alleles and mapping of the Qa1 locus. Stanton TH, et al. J Immunol, 1981 Oct. PMID 7276576

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC91064

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peptide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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_or_within antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    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
    		  
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    histocompatibility 2, Q region locus 1
    Names
    MHC class II antigen D

    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_001358790.1 → NP_001345719.1  histocompatibility 2, Q region locus 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      CR974466
      Consensus CDS
      CCDS89084.1
      UniProtKB/TrEMBL
      E9PX63, Q66JR0
      Related
      ENSMUSP00000100662.4, ENSMUST00000105041.10
      Conserved Domains (2) summary
      cd07698
      Location:204 → 296
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:22 → 200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    2. NM_010390.4 → NP_034520.2  histocompatibility 2, Q region locus 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_034520.2

      Status: VALIDATED

      Source sequence(s)
      CR974466, U96752
      Consensus CDS
      CCDS50086.1
      UniProtKB/TrEMBL
      O19441, Q31215
      Related
      ENSMUSP00000072942.6, ENSMUST00000073208.6
      Conserved Domains (3) summary
      cd07698
      Location:204 → 296
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:22 → 200
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      pfam06623
      Location:340 → 367
      MHC_I_C; MHC_I C-terminus

    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
      35539503..35547118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011246301.3 → XP_011244603.1  histocompatibility 2, Q region locus 1 isoform X5

      See identical proteins and their annotated locations for XP_011244603.1

      UniProtKB/TrEMBL
      Q31215
      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    2. XM_006523687.5 → XP_006523750.1  histocompatibility 2, Q region locus 1 isoform X2

      See identical proteins and their annotated locations for XP_006523750.1

      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    3. XM_006523689.4 → XP_006523752.1  histocompatibility 2, Q region locus 1 isoform X4

      See identical proteins and their annotated locations for XP_006523752.1

      UniProtKB/TrEMBL
      Q31215
      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    4. XM_011246300.4 → XP_011244602.1  histocompatibility 2, Q region locus 1 isoform X1

      See identical proteins and their annotated locations for XP_011244602.1

      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    5. XM_006523688.5 → XP_006523751.1  histocompatibility 2, Q region locus 1 isoform X3

      See identical proteins and their annotated locations for XP_006523751.1

      UniProtKB/TrEMBL
      Q31215
      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    6. XM_006523690.3 → XP_006523753.1  histocompatibility 2, Q region locus 1 isoform X6

      See identical proteins and their annotated locations for XP_006523753.1

      UniProtKB/TrEMBL
      Q66JR0
      Conserved Domains (2) summary
      cd07698
      Location:277 → 369
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:96 → 273
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    7. XM_030249510.2 → XP_030105370.1  histocompatibility 2, Q region locus 1 isoform X9

      UniProtKB/TrEMBL
      Q66JR0
      Conserved Domains (2) summary
      cd07698
      Location:212 → 304
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:31 → 208
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    8. XM_006523692.4 → XP_006523755.1  histocompatibility 2, Q region locus 1 isoform X10

      See identical proteins and their annotated locations for XP_006523755.1

      Conserved Domains (2) summary
      cd07698
      Location:185 → 277
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:96 → 184
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    9. XM_011246302.4 → XP_011244604.1  histocompatibility 2, Q region locus 1 isoform X8

      See identical proteins and their annotated locations for XP_011244604.1

      UniProtKB/TrEMBL
      Q31215
      Related
      ENSMUST00000172994.2
      Conserved Domains (2) summary
      cd07698
      Location:212 → 304
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:31 → 208
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    10. XM_006523691.4 → XP_006523754.1  histocompatibility 2, Q region locus 1 isoform X7

      See identical proteins and their annotated locations for XP_006523754.1

      UniProtKB/TrEMBL
      Q66JR0
      Conserved Domains (2) summary
      cd07698
      Location:212 → 304
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      pfam00129
      Location:31 → 208
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    11. XM_017317262.2 → XP_017172751.1  histocompatibility 2, Q region locus 1 isoform X11

      Conserved Domains (2) summary
      cd07698
      Location:120 → 212
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:31 → 119
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    Nucleotide Protein Strain
    Heading Accession and Version

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