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    H13 histocompatibility 13 [ Mus musculus (house mouse) ]

    Gene ID: 14950, updated on 11-Apr-2024

    Summary

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    Official Symbol
    H13provided by MGI
    Official Full Name
    histocompatibility 13provided by MGI
    Primary source
    MGI:MGI:95886
    See related
    Ensembl:ENSMUSG00000019188 AllianceGenome:MGI:95886
    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
    Spp; H-13; Hm13; PSL3; 1200006O09Rik; 4930443L17Rik; 5031424B04Rik
    Summary
    Predicted to enable aspartic endopeptidase activity, intramembrane cleaving; protein homodimerization activity; and ubiquitin protein ligase binding activity. Acts upstream of or within in utero embryonic development. Located in cell surface and endoplasmic reticulum membrane. Is expressed in several structures, including brain; embryo ectoderm; extraembryonic component; hemolymphoid system; and intervertebral disc. Orthologous to human HM13 (histocompatibility minor 13). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 32.1), ovary adult (RPKM 28.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See H13 in Genome Data Viewer
    Location:
    2 H1; 2 75.41 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (152511292..152550590)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (152669422..152708668)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700030C14 gene Neighboring gene STARR-seq mESC enhancer starr_06065 Neighboring gene predicted gene, 31791 Neighboring gene STARR-positive B cell enhancer ABC_E2648 Neighboring gene STARR-seq mESC enhancer starr_06066 Neighboring gene malignant T cell amplified sequence 2 Neighboring gene STARR-seq mESC enhancer starr_06068 Neighboring gene inhibitor of DNA binding 1, HLH protein Neighboring gene high mobility group box 1-like pseudogene

    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. New role of signal peptide peptidase to liberate C-terminal peptides for MHC class I presentation. Oliveira CC, et al. J Immunol, 2013 Oct 15. PMID 24048903
    2. The alleles of theH-13 locus. Graff RJ, et al. Immunogenetics, 1978 Dec. PMID 21302096
    3. Regulation of alternative polyadenylation by genomic imprinting. Wood AJ, et al. Genes Dev, 2008 May 1. PMID 18451104, Free PMC Article
    4. Induction of obliterative airway disease in murine tracheal allografts by CD8+ CTLs recognizing a single minor histocompatibility antigen. Higuchi T, et al. J Immunol, 2005 Feb 15. PMID 15699113
    5. How H13 histocompatibility peptides differing by a single methyl group and lacking conventional MHC binding anchor motifs determine self-nonself discrimination. Ostrov DA, et al. J Immunol, 2002 Jan 1. PMID 11751972

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. silencing of SPP and its family member SPPL2a led to a general reduction of surface peptide-MHC-I complexes, underlining the involvement of these enzymes in Ag processing and presentation.
      Title: New role of signal peptide peptidase to liberate C-terminal peptides for MHC class I presentation.
    2. Results show that two genetic systems show that alleles lacking methylation generate truncated H13 transcripts that undergo internal polyadenylation.
      Title: Regulation of alternative polyadenylation by genomic imprinting.
    3. new splice variant,signal peptide peptidase (SPP)beta, with an additional in-frame exon inserted between exons 11 and 12 of SPPalpha
      Title: Cell-surface expression of a new splice variant of the mouse signal peptide peptidase.
    4. widespread expression of SPP in many tissues; a distinct pattern of expression in the mature murine brain and during development indicates that SPP plays an important role in the establishment and maintenance of the nervous system
      Title: Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development.
    5. A single minor histocompatibility antigen mismatch at the polymorphic H13 allele plays a role in chronic allograft rejection of solid organs such as obliterative airway disease development following murine tracheal transplantation.
      Title: Induction of obliterative airway disease in murine tracheal allografts by CD8+ CTLs recognizing a single minor histocompatibility antigen.
    6. structural analysis of H13 peptides lacking MHC binding anchor motifs determines self-nonself discrimination
      Title: How H13 histocompatibility peptides differing by a single methyl group and lacking conventional MHC binding anchor motifs determine self-nonself discrimination.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aspartic endopeptidase activity, intramembrane cleaving IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aspartic endopeptidase activity, intramembrane cleaving ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane protein proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane protein proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal peptide processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Derlin-1 retrotranslocation complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic side of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic side of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lumenal side of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lumenal side of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in rough endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    minor histocompatibility antigen H13
    Names
    presenilin-like aspartyl protease
    presenilin-like protein 3
    signal peptide peptidase beta
    NP_001153023.1
    NP_001153024.1
    NP_001153025.1
    NP_034506.1
    XP_006498846.1
    XP_017171155.1

    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_001159551.2 → NP_001153023.1  minor histocompatibility antigen H13 isoform 1

      See identical proteins and their annotated locations for NP_001153023.1

      Status: VALIDATED

      Source sequence(s)
      AL845162
      Consensus CDS
      CCDS50752.1
      UniProtKB/TrEMBL
      A3KGR9
      Related
      ENSMUSP00000086460.3, ENSMUST00000089059.9
      Conserved Domains (1) summary
      pfam04258
      Location:62 → 350
      Peptidase_A22B; Signal peptide peptidase

    2. NM_001159552.2 → NP_001153024.1  minor histocompatibility antigen H13 isoform 3

      See identical proteins and their annotated locations for NP_001153024.1

      Status: VALIDATED

      Source sequence(s)
      AL845162
      Consensus CDS
      CCDS50753.1
      UniProtKB/TrEMBL
      Q6PGJ8, Q8HWB1
      Related
      ENSMUSP00000105450.2, ENSMUST00000109825.8
      Conserved Domains (1) summary
      cl01342
      Location:62 → 145
      Peptidase_A22B; Signal peptide peptidase

    3. NM_001159553.2 → NP_001153025.1  minor histocompatibility antigen H13 isoform 4

      See identical proteins and their annotated locations for NP_001153025.1

      Status: VALIDATED

      Source sequence(s)
      AL845162
      UniProtKB/Swiss-Prot
      Q9D8V0
      Conserved Domains (1) summary
      cl01342
      Location:62 → 123
      Peptidase_A22B; Signal peptide peptidase

    4. NM_010376.5 → NP_034506.1  minor histocompatibility antigen H13 isoform 2

      See identical proteins and their annotated locations for NP_034506.1

      Status: VALIDATED

      Source sequence(s)
      AL845162
      Consensus CDS
      CCDS16896.1
      UniProtKB/Swiss-Prot
      A3KGS1, O19444, Q15K37, Q3TXP0, Q542R3, Q811Z6, Q8HWA9, Q8HWB5, Q9CQA4, Q9CSK9, Q9D8V0
      UniProtKB/TrEMBL
      A3KGR9
      Related
      ENSMUSP00000120068.2, ENSMUST00000125366.8
      Conserved Domains (1) summary
      pfam04258
      Location:62 → 350
      Peptidase_A22B; Signal peptide peptidase

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      152511292..152550590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498783.5 → XP_006498846.1  minor histocompatibility antigen H13 isoform X2

      UniProtKB/TrEMBL
      A3KGR9
      Related
      ENSMUSP00000078236.4, ENSMUST00000079247.4
      Conserved Domains (1) summary
      pfam04258
      Location:62 → 350
      Peptidase_A22B; Signal peptide peptidase

    2. XM_017315666.3 → XP_017171155.1  minor histocompatibility antigen H13 isoform X1

      Conserved Domains (1) summary
      cl01342
      Location:50 → 157
      Peptidase_A22B; Signal peptide peptidase

    RNA

    1. XR_001780858.3 RNA Sequence

    2. XR_374416.3 RNA Sequence

    3. XR_003950808.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D8V0.1 GenPept UniProtKB/Swiss-Prot:Q9D8V0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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