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Ctsh cathepsin H [ Mus musculus (house mouse) ]

Gene ID: 13036, updated on 8-Feb-2024

Summary

Official Symbol
Ctshprovided by MGI
Official Full Name
cathepsin Hprovided by MGI
Primary source
MGI:MGI:107285
See related
Ensembl:ENSMUSG00000032359 AllianceGenome:MGI:107285
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
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
RS_2024_02 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)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RAS protein-specific guanine nucleotide-releasing factor 1 Neighboring gene STARR-seq mESC enhancer starr_24879 Neighboring gene thymidine kinase 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24880 Neighboring gene STARR-positive B cell enhancer ABC_E6787 Neighboring gene STARR-positive B cell enhancer ABC_E2910 Neighboring gene mortality factor 4 like 1 Neighboring gene STARR-seq mESC enhancer starr_24882 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IBA
Inferred from Biological aspect of Ancestor
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
 
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 
acts_upstream_of_or_within apoptotic process 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
involved_in positive regulation of apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
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)

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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_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
    cd02248
    Location:45259
    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, ...
  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, Q3UCD6
    UniProtKB/TrEMBL
    Q922Q7
    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: 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_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)