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. Incre... See more...

Aliases for CTSH Gene

Aliases for CTSH Gene

  • Cathepsin H 2 3 5
  • Pro-Cathepsin H 3 4
  • ACC-4 2 3
  • ACC-5 2 3
  • ACC4 2 3
  • ACC5 2 3
  • CPSB 3 4
  • N-Benzoylarginine-Beta-Naphthylamide Hydrolase 3
  • Cathepsin B3 3
  • Cathepsin BA 3
  • EC 50
  • EC 3.4.22 50
  • Aleurain 3
  • CTSH 5

External Ids for CTSH Gene

Previous HGNC Symbols for CTSH Gene

  • CPSB

Previous GeneCards Identifiers for CTSH Gene

  • GC15P075196
  • GC15M072371
  • GC15M076790
  • GC15M076929
  • GC15M077001
  • GC15M079213
  • GC15M055974

Summaries for CTSH Gene

Entrez Gene Summary for CTSH Gene

  • 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. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for CTSH Gene

CTSH (Cathepsin H) is a Protein Coding gene. Diseases associated with CTSH include Narcolepsy 1 and Retinitis Pigmentosa 46. Among its related pathways are Apoptosis Modulation and Signaling and Lysosome. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is CTSK.

UniProtKB/Swiss-Prot Summary for CTSH Gene

Gene Wiki entry for CTSH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSH Gene

Genomics for CTSH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTSH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J078942 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 276.3 +5.7 5681 3.4 MYC IKZF1 ZNF592 POLR2A YY1 MXD4 NONO SMAD5 TARDBP BHLHE40 CTSH lnc-RASGRF1-4 HSALNG0107512 ADAMTS7
GH15J078949 Enhancer 1 Ensembl ENCODE 260.8 -1.6 -1569 3.3 CEBPA ATF3 CHD4 YY1 CEBPB FOXA1 CTCF MBD2 FOXA2 CTBP1 CTSH lnc-RASGRF1-4 HSALNG0107516 RASGRF1
GH15J078921 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 32.7 +22.5 22506 10.3 ZNF600 JUND ZNF592 ATF2 POLR2A NFIC YY1 CEBPB TBP ZNF217 CTSH LOC100129540 RNU6-415P ADAMTS7 MORF4L1 RASGRF1 HSALNG0107512 lnc-RASGRF1-4
GH15J078935 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 21.8 +11.0 11005 6.2 BCLAF1 NCOR1 IKZF1 ZNF592 NFIC NONO BCL11A SMAD5 TRIM22 HES1 CTSH lnc-RASGRF1-4 HSALNG0107512 ADAMTS7
GH15J078858 Promoter/Enhancer 1.8 VISTA FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10 +89.2 89218 3.4 BCLAF1 IKZF1 ZNF580 ZNF592 POLR3G ATF3 BRCA1 NFIC POLR2A YY1 HSALNG0107502 TRK-CTT1-2 ADAMTS7 MORF4L1 IREB2 CTSH ENSG00000259562 RASGRF1 piR-39099-106
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTSH

Top Transcription factor binding sites by QIAGEN in the CTSH gene promoter:
  • AML1a
  • ARP-1
  • FOXL1
  • HFH-1
  • Max1
  • NF-E2
  • NF-E2 p45
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CTSH Gene

Latest Assembly
28,517 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
23,989 bases
Minus strand

(GRCh37/hg19 by Ensembl)
28,517 bases
Minus strand

Genomic View for CTSH Gene

Genes around CTSH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSH Gene

Proteins for CTSH Gene

  • Protein details for CTSH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pro-cathepsin H
    Protein Accession:
    Secondary Accessions:
    • B2RBK0
    • Q96NY6
    • Q9BUM7

    Protein attributes for CTSH Gene

    335 amino acids
    Molecular mass:
    37394 Da
    Quaternary structure:
    • Composed of a mini chain and a large chain. The large chain may be split into heavy and light chain. All chains are held together by disulfide bonds.

    Three dimensional structures from OCA and Proteopedia for CTSH Gene

neXtProt entry for CTSH Gene

Selected DME Specific Peptides for CTSH Gene


Post-translational modifications for CTSH Gene

  • Glycosylation at Asn101 and Asn230
  • Ubiquitination at Lys106
  • Modification sites at PhosphoSitePlus

Domains & Families for CTSH Gene

Gene Families for CTSH Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTSH Gene

  • Papain cysteine protease (C1) family signature
  • Proteinase inhibitor I29, cathepsin propeptide

Suggested Antigen Peptide Sequences for CTSH Gene

GenScript: Design optimal peptide antigens:
  • Pro-cathepsin H (CATH_HUMAN)
  • CTSH protein (Q6IBC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C1 family.
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSH: view

Function for CTSH Gene

Molecular function for CTSH Gene

UniProtKB/Swiss-Prot Function:
Important for the overall degradation of proteins in lysosomes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg-|-Xaa bonds) as well as an endopeptidase.; EC=;.
GENATLAS Biochemistry:
cathepsin H,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation during endochondral ossification

Enzyme Numbers (IUBMB) for CTSH Gene

Phenotypes From GWAS Catalog for CTSH Gene

Gene Ontology (GO) - Molecular Function for CTSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP,IDA 14766755
GO:0004177 aminopeptidase activity IDA 15127951
GO:0004197 cysteine-type endopeptidase activity IDA,TAS 2849458
GO:0004252 serine-type endopeptidase activity IMP,ISS --
GO:0005515 protein binding IPI 6203523
genes like me logo Genes that share ontologies with CTSH: view
genes like me logo Genes that share phenotypes with CTSH: view

Human Phenotype Ontology for CTSH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSH Gene

MGI Knock Outs for CTSH:
  • Ctsh Ctsh<tm1Thre>
  • Ctsh Ctsh<tm1b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for CTSH

miRNA for CTSH Gene

miRTarBase miRNAs that target CTSH

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSH

No data available for Transcription Factor Targets and HOMER Transcription for CTSH Gene

Localization for CTSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSH Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSH gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
endosome 4
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytoplasmic bodies (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 9050938
GO:0005764 lysosome IEA,IDA 1837142
GO:0005829 cytosol IDA 9050938
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with CTSH: view

Pathways & Interactions for CTSH Gene

genes like me logo Genes that share pathways with CTSH: view

Pathways by source for CTSH Gene

1 GeneTex pathway for CTSH Gene

SIGNOR curated interactions for CTSH Gene


Gene Ontology (GO) - Biological Process for CTSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001656 metanephros development ISS --
GO:0001913 T cell mediated cytotoxicity IGI,ISS --
GO:0002250 adaptive immune response IEP 15196205
GO:0002764 immune response-regulating signaling pathway IDA 16822283
GO:0006508 proteolysis IEA,TAS 2849458
genes like me logo Genes that share ontologies with CTSH: view

Drugs & Compounds for CTSH Gene

(8) Drugs for CTSH Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-2-Methyl-Butane Experimental Pharma Target 0
N1-(1-Dimethylcarbamoyl-2-Phenyl-Ethyl)-2-Oxo-N4-(2-Pyridin-2-Yl-Ethyl)-Succinamide Experimental Pharma Target 0
p-Toluenesulfonic acid Experimental Pharma Target 0
E 64d Pharma Cysteine protease inhibitor, Cathepsin inhibitor; interferes with autolysosomal digestion 0

(1) Additional Compounds for CTSH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CTSH Gene

Compound Action Cas Number
E 64d Cysteine protease inhibitor 88321-09-9
genes like me logo Genes that share compounds with CTSH: view

Drug products for research

Transcripts for CTSH Gene

mRNA/cDNA for CTSH Gene

19 NCBI additional mRNA sequence :
69 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSH

Alternative Splicing Database (ASD) splice patterns (SP) for CTSH Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP6: -

Relevant External Links for CTSH Gene

GeneLoc Exon Structure for

Expression for CTSH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTSH Gene

mRNA differential expression in normal tissues according to GTEx for CTSH Gene

This gene is overexpressed in Lung (x5.1) and Kidney - Cortex (x4.5).

Protein differential expression in normal tissues from HIPED for CTSH Gene

This gene is overexpressed in Nasal epithelium (11.8) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTSH Gene

Protein tissue co-expression partners for CTSH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTSH

SOURCE GeneReport for Unigene cluster for CTSH Gene:


Evidence on tissue expression from TISSUES for CTSH Gene

  • Lung(4.8)
  • Kidney(4.7)
  • Liver(4.6)
  • Eye(4.5)
  • Nervous system(3.7)
  • Lymph node(3.1)
  • Spleen(2.9)
  • Intestine(2.9)
  • Skin(2.8)
  • Muscle(2.7)
  • Heart(2.6)
  • Pancreas(2.6)
  • Stomach(2.6)
  • Thyroid gland(2.5)
  • Blood(2.5)
  • Gall bladder(2.2)
  • Adrenal gland(2.2)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • heart
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CTSH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CTSH Gene

Orthologs for CTSH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTSH 29 30
  • 99.5 (n)
(Bos Taurus)
Mammalia CTSH 29 30
  • 86.77 (n)
(Rattus norvegicus)
Mammalia Ctsh 29
  • 83.38 (n)
(Canis familiaris)
Mammalia CTSH 29 30
  • 83.07 (n)
(Mus musculus)
Mammalia Ctsh 29 16 30
  • 82.88 (n)
(Monodelphis domestica)
Mammalia CTSH 30
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 32 (a)
(Gallus gallus)
Aves CTSH 29
  • 71.75 (n)
-- 30
  • 33 (a)
(Anolis carolinensis)
Reptilia CTSH 30
  • 68 (a)
(Danio rerio)
Actinopterygii ctsh 29 30
  • 67.76 (n)
wufc44c02 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9813 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4847 31
  • 38 (a)
26-29kD-proteinase 31
  • 35 (a)
CG11459 30
  • 29 (a)
(Caenorhabditis elegans)
Secernentea R09F10.1 31
  • 35 (a)
R07E3.1 31
  • 31 (a)
Y113G7B.15 31
  • 30 (a)
Y71H2AR.2 30
  • 23 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G45310 29
  • 54.8 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7537 29
(Glycine max)
eudicotyledons Gma.2302 29
(Oryza sativa)
Liliopsida Os09g0442300 29
  • 56 (n)
Os.7860 29
(Hordeum vulgare)
Liliopsida Hv.1501 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.296 30
  • 41 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3543 29
Species where no ortholog for CTSH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CTSH Gene

Gene Tree for CTSH (if available)
Gene Tree for CTSH (if available)
Evolutionary constrained regions (ECRs) for CTSH: view image
Alliance of Genome Resources:
Additional Orthologs for CTSH

Paralogs for CTSH Gene

Paralogs for CTSH Gene

(9) SIMAP similar genes for CTSH Gene using alignment to 5 proteins:

  • E9PN60_HUMAN
  • E9PN84_HUMAN
genes like me logo Genes that share paralogs with CTSH: view

Variants for CTSH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTSH Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs138419720 Benign: not provided 78,937,337(-) A/G
NM_004390.5(CTSH):c.210T>C (p.Asn70=)
rs148219875 Likely Benign: not provided 78,927,712(-) C/T
rs1596295893 Likely Benign: not provided 78,944,919(-) A/C
NM_004390.5(CTSH):c.63T>G (p.Gly21=)
rs35001431 Benign: not provided 78,944,915(-) C/Tp.Ala23Thr
NM_004390.5(CTSH):c.67G>A (p.Ala23Thr)
rs544340367 Likely Benign: not provided 78,937,358(-) C/T
NM_004390.5(CTSH):c.189G>A (p.Arg63=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTSH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTSH Gene

Variant ID Type Subtype PubMed ID
esv33573 CNV gain+loss 17666407
esv3552725 CNV deletion 23714750
esv3636994 CNV loss 21293372
nsv1629 CNV insertion 18451855

Variation tolerance for CTSH Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.12; 87.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSH Gene

Disorders for CTSH Gene

MalaCards: The human disease database

(7) MalaCards diseases for CTSH Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
narcolepsy 1
  • nrclp1
retinitis pigmentosa 46
  • rp46
thyroid crisis
  • thyrotoxic crisis
  • narcolepsy, without cataplexy
otopalatodigital syndrome, type ii
  • opd2
- elite association - COSMIC cancer census association via MalaCards
Search CTSH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTSH

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTSH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTSH Gene

Publications for CTSH Gene

  1. Analysis of a truncated form of cathepsin H in human prostate tumor cells. (PMID: 11796715) Waghray A … Chen YQ (The Journal of biological chemistry 2002) 3 4 22
  2. Molecular cloning and sequencing of a cDNA coding for mature human kidney cathepsin H. (PMID: 2849458) Fuchs R … Gassen HG (Biological chemistry Hoppe-Seyler 1988) 2 3 4
  3. Genome-wide association study on bipolar disorder in the Bulgarian population. (PMID: 21771265) Yosifova A … Nakamura Y (Genes, brain, and behavior 2011) 3 40
  4. Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. (PMID: 20203524) Pierce BL … Ahsan H (Human heredity 2010) 3 40
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for CTSH Gene

Sources for CTSH Gene