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    Ctsh cathepsin H [ Mus musculus (house mouse) ]

    Gene ID: 13036, updated on 25-Sep-2017
    Official Symbol
    Ctshprovided by MGI
    Official Full Name
    cathepsin Hprovided by MGI
    Primary source
    MGI:MGI:107285
    See related
    Ensembl:ENSMUSG00000032359 Vega:OTTMUSG00000024409
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AL022844
    Summary
    This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin H mini, heavy, and light chains. In rat and human, these three chains can associate to form the mature enzyme, which has both aminopeptidase and endopeptidase activities. Homozygous knockout mice for this gene exhibit impaired lung surfactant processing and reduced tumorigenesis in a pancreatic cancer model. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
    Expression
    Broad expression in placenta adult (RPKM 82.3), bladder adult (RPKM 57.4) and 21 other tissues See more
    Orthologs
    Location:
    9 E3.1; 9 47.4 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (90054267..90076095)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (89949105..89970933)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene RAS protein-specific guanine nucleotide-releasing factor 1 Neighboring gene thymidine kinase 1 pseudogene Neighboring gene mortality factor 4 like 1 Neighboring gene transmembrane protein 41B pseudogene

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Surfactant metabolism, organism-specific biosystem (from REACTOME)
      Surfactant metabolism, organism-specific biosystemcomputationally inferred pathway (not manually curated)

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    HLA-A specific activating MHC class I receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    aminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    aminopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    cysteine-type endopeptidase activator activity involved in apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cysteine-type endopeptidase activator activity involved in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    cysteine-type peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    kininogen binding ISO
    Inferred from Sequence Orthology
    more info
     
    peptidase activator activity involved in apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein self-association ISO
    Inferred from Sequence Orthology
    more info
     
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thyroid hormone binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    ERK1 and ERK2 cascade ISO
    Inferred from Sequence Orthology
    more info
     
    T cell mediated cytotoxicity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    bradykinin catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    dichotomous subdivision of terminal units involved in lung branching IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immune response-regulating signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    membrane protein proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane protein proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuropeptide catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of peptidase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein destabilization ISO
    Inferred from Sequence Orthology
    more info
     
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    proteolysis involved in cellular protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    surfactant homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    zymogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    zymogen activation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    alveolar lamellar body ISO
    Inferred from Sequence Orthology
    more info
     
    axoneme ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    outer dense fiber ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    pro-cathepsin H
    Names
    Cat H
    cathepsin B3
    cathepsin BA
    NP_001299578.1
    NP_031827.2
    XP_011240962.1

    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_001312649.1NP_001299578.1  pro-cathepsin H isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start site, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AC140392, AK160026, BG078538, DV043764
      UniProtKB/Swiss-Prot
      P49935
      Conserved Domains (1) summary
      pfam00112
      Location:45260
      Peptidase_C1; Papain family cysteine protease
    2. NM_007801.3NP_031827.2  pro-cathepsin H isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_031827.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC140392, AK160026, BG078538, DV043764
      Consensus CDS
      CCDS23399.1
      UniProtKB/Swiss-Prot
      P49935
      Related
      ENSMUSP00000034915.8, OTTMUSP00000029135, ENSMUST00000034915.14, OTTMUST00000059829
      Conserved Domains (2) summary
      pfam00112
      Location:115330
      Peptidase_C1; Papain family cysteine protease
      pfam08246
      Location:3388
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      90054267..90076095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242660.1XP_011240962.1  pro-cathepsin H isoform X1

      Conserved Domains (2) summary
      pfam08246
      Location:3388
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cl23744
      Location:115230
      Peptidase_C1; C1 Peptidase family (MEROPS database nomenclature), also referred to as the papain family; composed of two subfamilies of cysteine peptidases (CPs), C1A (papain) and C1B (bleomycin hydrolase). Papain-like enzymes are mostly endopeptidases with some ...
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