Ctsh cathepsin H [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cathepsin H deficiency decreases hypoxia-ischemia-induced hippocampal atrophy in neonatal mice through attenuated TLR3/IFN-beta signaling.
Title: Cathepsin H deficiency decreases hypoxia-ischemia-induced hippocampal atrophy in neonatal mice through attenuated TLR3/IFN-β signaling.
CatH deficiency impaired toll-like receptor 3-mediated activation of interferon regulatory factor 3 and consequent secretion of IFN-beta
Title: Cathepsin H deficiency in mice induces excess Th1 cell activation and early-onset of EAE though impairment of toll-like receptor 3 cascade.
The data provide strong evidence that CTSH is an important regulator of beta-cell function during progression of T1D
Title: CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients.
Cathepsin H knockout mice show reduced brain levels of (Met)enkephalin and galanin.
Title: Cathepsin H functions as an aminopeptidase in secretory vesicles for production of enkephalin and galanin peptide neurotransmitters.
cathepsin H is involved in the SP-B production.
Title: Gene targeting of the cysteine peptidase cathepsin H impairs lung surfactant in mice.
CTSH overexpression in a subset hepatoma may be thyroid hormone receptor dependent and suggests that this overexpression has an important role in hepatoma progression.
Title: Cathepsin H regulated by the thyroid hormone receptors associate with tumor invasion in human hepatoma cells.
In two mouse models of pancreatic islet cancer, deletion of CtsH reduced tumor progression; mechanisms involved impaired angiogenic switching from premalignant state, poor vascularization of tumors, and increased apoptosis.
Title: Deletion of cathepsin H perturbs angiogenic switching, vascularization and growth of tumors in a mouse model of pancreatic islet cell cancer.
Presence of cathepsin H and (bone morphogenetic protein 4)BMP4 in lung or other developing organs suggest that cathepsin H regulates BMP4 proteolysis in morphogenesis.
Title: Cathespin H is an Fgf10 target involved in Bmp4 degradation during lung branching morphogenesis.
In proteolipid protein transgenic mice cathepsin H is upregulated primarily in microglia/macrophages of white matter.
Title: Induced expression of cathepsins and cystatin C in a murine model of demyelination.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127737 (e-PCR)
- UniSTS:211047

U06119 (e-PCR)
- UniSTS:159906

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-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

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Preferred Names: pro-cathepsin H

Names: Cat H; cathepsin B3; cathepsin BA

NP_001299578.1

EC 3.4.22.16

NP_031827.2

EC 3.4.22.16

XP_011240962.1

EC 3.4.22.16

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)

NM_001312649.1 → NP_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:45 → 259

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, ...
NM_007801.3 → NP_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:115 → 330

Peptidase_C1; Papain family cysteine protease

pfam08246
Location:33 → 88

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

89936320..89958148

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

cd02248
Location:115 → 230

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:33 → 88

Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)