CTSH cathepsin H [Homo sapiens] - Gene

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Summary

Official Symbol: CTSHprovided by HGNC
Official Full Name: cathepsin Hprovided by HGNC
Primary source: HGNC:2535
See related: Ensembl:ENSG00000103811; HPRD:00288; MIM:116820; Vega:OTTHUMG00000144171
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPSB; ACC-4; ACC-5; minichain; MGC1519; DKFZp686B24257
Summary: The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. [provided by RefSeq, Mar 2010]

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Genomic context

Location :: 15q25.1

Sequence :: Chromosome: 15; NC_000015.9 (79214092..79237420, complement)

See CTSH in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
These data indicate that cathepsins B, L and S may act as cell-death mediators in in monocytic cells infected with ICP4 and Us3 deletion mutant herpes simplex virus type 1.
Title: Cathepsins are involved in virus-induced cell death in ICP4 and Us3 deletion mutant herpes simplex virus type 1-infected monocytic cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
In contrast to cathepsin S, cathepsin H values did not correlate with markers of inflammation, indicating a specific role for cathepsin H in the pleural host response.
Title: Levels of cathepsins S and H in pleural fluids of inflammatory and neoplastic origin.
cathepsin B, cathepsin H, cathepsin X and cystatin C may have roles in inflammatory breast cancer
Title: Cathepsin B, cathepsin H, cathepsin X and cystatin C in sera of patients with early-stage and inflammatory breast cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
A general defect in napsin A or cathepsin H expression or activity was not the specific cause for abnormal surfactant accumulation in juvenile pulmonary alveolar proteinosis
Title: Cathepsin H and napsin A are active in the alveoli and increased in alveolar proteinosis.
AKR1B1 and CTSH may be good markers for prediction of sensitivity to certain drugs
Title: Identification of candidate predictive markers of anticancer drug sensitivity using a panel of human cancer cell lines.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_683880.1	NP_005204.1	CSTA	BIND	PubMed	Lysosomal cysteine protease cathepsin H interacts with intracellular protease inhibitor stefin A. This interaction is modeled based on a demonstrated interaction between porcine cathepsin H and human stefinA.
P09668	P02818	BGLAP	HPRD	PubMed
P09668	P01040	CSTA	HPRD	PubMed
P09668	P04080	CSTB	HPRD	PubMed
P09668	P07988	SFTPB	HPRD	PubMed
BioGRID:107892	BioGRID:107857	CSTA	BioGRID	PubMed	Co-crystal Structure
BioGRID:107892	BioGRID:107858	CSTB	BioGRID	PubMed	Reconstituted Complex
BioGRID:107892	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
HLA-A specific activating MHC class I receptor activity	IDA Inferred from Direct Assay more info	PubMed
aminopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
apoptotic protease activator activity	IDA Inferred from Direct Assay more info
cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
cysteine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed
endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
kininogen binding	IEA Inferred from Electronic Annotation more info
peptidase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
serine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
thyroid hormone binding	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info
T cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
adaptive immune response	IEP Inferred from Expression Pattern more info	PubMed
antigen processing and presentation	TAS Traceable Author Statement more info	PubMed
bradykinin catabolic process	IDA Inferred from Direct Assay more info	PubMed
cellular response to thyroid hormone stimulus	IEP Inferred from Expression Pattern more info
dichotomous subdivision of terminal units involved in lung branching	ISS Inferred from Sequence or Structural Similarity more info
immune response-regulating signaling pathway	IDA Inferred from Direct Assay more info	PubMed
membrane protein proteolysis	IDA Inferred from Direct Assay more info	PubMed
metanephros development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
neuropeptide catabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	IDA Inferred from Direct Assay more info
positive regulation of cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of epithelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of gene expression	IDA Inferred from Direct Assay more info
positive regulation of peptidase activity	IDA Inferred from Direct Assay more info
protein destabilization	IMP Inferred from Mutant Phenotype more info	PubMed
proteolysis	IDA Inferred from Direct Assay more info	PubMed
response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
surfactant homeostasis	IDA Inferred from Direct Assay more info	PubMed
zymogen activation	IDA Inferred from Direct Assay more info

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
lamellar body	IDA Inferred from Direct Assay more info	PubMed
lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: pro-cathepsin H

Names: pro-cathepsin H; aleurain; cathepsin B3; cathepsin BA; N-benzoylarginine-beta-naphthylamide hydrolase

NP_004381.2

EC 3.4.22.16

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_009614.1 RefSeqGene

Range

5001..28329

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004390.3 → NP_004381.2 pro-cathepsin H preproprotein

Status: REVIEWED

Source sequence(s)

AC011944, AF426247, AI057198, BC018821

Consensus CDS

CCDS10308.1

UniProtKB/Swiss-Prot

P09668

UniProtKB/TrEMBL

Q96NY6

Related

ENSP00000220166, OTTHUMP00000185564, ENST00000220166, OTTHUMT00000291370

Conserved Domains (2) summary

cd02248
Location:117 – 331
Blast Score: 721

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, ...

cl07031
Location:35 – 90
Blast Score: 207

Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

79214092..79237420, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

55974005..55997318, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_148979.2: Suppressed sequence

Description

NM_148979.2: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011944.12 (81275..104589)	None
genomic	CH471136.2	EAW99143.1
mRNA	AF426247.1	AAL23961.1
mRNA	AF426248.1	AAL23962.1
mRNA	AI057198.1	None
mRNA	AK026152.1	None
mRNA	AK130158.1	None
mRNA	AK309491.1	None
mRNA	AK314698.1	BAG37247.1
mRNA	AL110099.1	None
mRNA	BC002479.2	AAH02479.1
mRNA	BC018821.2	None
mRNA	BG775606.1	None
mRNA	CR456881.1	CAG33162.1
mRNA	CR749582.1	CAH18374.1
mRNA	D28436.1	BAA05802.1
mRNA	X07549.1	CAA30428.1
		CAA30429.1
mRNA	X16832.1	CAA34734.1
mRNA	Y18461.1	CAA77179.1
other-genetic	DQ890683.2	ABM81609.1
other-genetic	DQ893772.2	ABM84698.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P09668.4	GenPept	UniProtKB/Swiss-Prot:P09668
Q68D46	GenPept	UniProtKB/TrEMBL:Q68D46
Q6IBC3	GenPept	UniProtKB/TrEMBL:Q6IBC3
Q6LAF8	GenPept	UniProtKB/TrEMBL:Q6LAF8
Q96NY6	GenPept	UniProtKB/TrEMBL:Q96NY6