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    Ctsh cathepsin H [ Mus musculus (house mouse) ]

    Gene ID: 13036, updated on 23-Jun-2021

    Summary

    Official Symbol
    Ctshprovided by MGI
    Official Full Name
    cathepsin Hprovided by MGI
    Primary source
    MGI:MGI:107285
    See related
    Ensembl:ENSMUSG00000032359
    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
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    Genomic context

    See Ctsh in Genome Data Viewer
    Location:
    9 E3.1; 9 47.4 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (89936320..89958148)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (90054267..90076095)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (89949105..89970933)

    Chromosome 9 - NC_000075.7Genomic 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

    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

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    pro-cathepsin H
    Names
    Cat H
    cathepsin B3
    cathepsin BA
    NP_001299578.1
    NP_031827.2
    XP_011240962.1

    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_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
      ENSMUSP00000034915.9, ENSMUST00000034915.15
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      89936320..89958148
      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
      cd02248
      Location:115230
      Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
      pfam08246
      Location:3388
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
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