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Aliases for CTSH Gene

Aliases for CTSH Gene

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

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 Thyroid Crisis and Intermittent Explosive Disorder. Among its related pathways are Innate Immune System and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is CTSK.

UniProtKB/Swiss-Prot for CTSH Gene

  • Important for the overall degradation of proteins in lysosomes.

Gene Wiki entry for CTSH Gene

Additional gene information for CTSH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSH Gene

Genomics for CTSH Gene

GeneHancer (GH) Regulatory Elements for CTSH Gene

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
GH15J078943 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 672.7 +5.3 5258 2.6 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 GATA2 CTSH ENSG00000279235
GH15J078949 Enhancer 1.1 Ensembl ENCODE 660.9 -1.5 -1523 3.2 HDAC1 FOXA2 NFIB RAD21 RFX5 RARA YY1 ZNF366 HSF1 FOS CTSH ADAMTS7P3 GC15M078960
GH15J078935 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.8 +11.0 11005 6.2 HDGF PKNOX1 ATF1 TCF12 ATF7 RUNX3 JUNB NCOA1 ZNF592 MBD2 CTSH IREB2 ENSG00000259562 TBC1D2B ENSG00000260988 ENSG00000279235
GH15J078927 Enhancer 0.7 ENCODE dbSUPER 31.6 +22.0 22001 1.4 NFIC POLR2A NFIB CEBPB ZNF600 CTSH ENSG00000177699 ENSG00000279235
GH15J078928 Enhancer 0.8 ENCODE dbSUPER 26.7 +20.2 20162 1.6 SCRT1 CEBPB DPF2 SREBF1 E2F1 GATA3 CTBP1 POLR2A SCRT2 RBM22 CTSH ENSG00000177699 ENSG00000279235
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CTSH Gene

Genomic Locations for CTSH Gene
28,517 bases
Minus strand
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

Post-translational modifications for CTSH Gene

  • Glycosylation at Asn230 and posLast=101101
  • Ubiquitination at posLast=106106
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTSH Gene

Domains & Families for CTSH Gene

Gene Families for CTSH Gene

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

Suggested Antigen Peptide Sequences for CTSH Gene

GenScript: Design optimal peptide antigens:

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:
Hydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg- -Xaa bonds) as well as an endopeptidase.
GENATLAS Biochemistry:
cathepsin H,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation during endochondral ossification

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 IDA,IEA 14766755
GO:0004177 aminopeptidase activity IDA 15127951
GO:0004197 cysteine-type endopeptidase activity TAS,IEA 2849458
GO:0004252 serine-type endopeptidase activity ISS,IEA --
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>

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSH

miRNA for CTSH Gene

miRTarBase miRNAs that target CTSH

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 5
nucleus 2
plasma membrane 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 IDA 9050938
GO:0005764 lysosome IDA,IEA 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

2 KEGG pathways 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 ISS,IEA --
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

No data available for SIGNOR curated interactions for CTSH Gene

Drugs & Compounds for CTSH Gene

(8) Drugs for CTSH Gene - From: DrugBank 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
Para-Toluene Sulfonate 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
genes like me logo Genes that share compounds with CTSH: view

Transcripts for CTSH Gene

Unigene Clusters for CTSH Gene

Cathepsin H:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for

Expression for CTSH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CTSH Gene:


SOURCE GeneReport for Unigene cluster for CTSH Gene:


Evidence on tissue expression from TISSUES for CTSH Gene

  • Lung(4.8)
  • Kidney(4.6)
  • Liver(4.6)
  • Eye(4.3)
  • Nervous system(3.5)
  • Spleen(2.7)
  • Muscle(2.6)
  • Skin(2.6)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Gall bladder(2.2)
  • Intestine(2.2)
  • Stomach(2.2)
  • Blood(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 34 33
  • 99.5 (n)
(Bos Taurus)
Mammalia CTSH 34 33
  • 86.77 (n)
(Rattus norvegicus)
Mammalia Ctsh 33
  • 83.38 (n)
(Canis familiaris)
Mammalia CTSH 34 33
  • 83.07 (n)
(Mus musculus)
Mammalia Ctsh 16 34 33
  • 82.88 (n)
(Monodelphis domestica)
Mammalia CTSH 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 32 (a)
(Gallus gallus)
Aves CTSH 33
  • 71.75 (n)
-- 34
  • 33 (a)
(Anolis carolinensis)
Reptilia CTSH 34
  • 68 (a)
(Danio rerio)
Actinopterygii ctsh 34 33
  • 67.76 (n)
wufc44c02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9813 33
fruit fly
(Drosophila melanogaster)
Insecta CG4847 35
  • 38 (a)
26-29kD-proteinase 35
  • 35 (a)
CG11459 34
  • 29 (a)
(Caenorhabditis elegans)
Secernentea R09F10.1 35
  • 35 (a)
R07E3.1 35
  • 31 (a)
Y113G7B.15 35
  • 30 (a)
Y71H2AR.2 34
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45310 33
  • 54.8 (n)
(Glycine max)
eudicotyledons Gma.2302 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7537 33
(Oryza sativa)
Liliopsida Os09g0442300 33
  • 56 (n)
Os.7860 33
(Hordeum vulgare)
Liliopsida Hv.1501 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.296 34
  • 41 (a)
Cin.3543 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3543 33
Species where no ortholog for CTSH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

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 from dbSNP and Humsavar for CTSH Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs886037648 uncertain-significance, Variant of unknown significance 78,932,376(-) GACAG/G 5_prime_UTR_variant, coding_sequence_variant, frameshift
VAR_036478 A colorectal cancer sample p.Gly126Arg
rs1000054384 -- 78,941,519(-) G/A intron_variant
rs1000105021 -- 78,941,191(-) C/G intron_variant
rs1000268396 -- 78,931,797(-) A/G 5_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTSH Gene

MalaCards: The human disease database

(6) MalaCards diseases for CTSH Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
thyroid crisis
  • thyrotoxic crisis
intermittent explosive disorder
  • explosive personality disorder
  • narcolepsy, without cataplexy
fibrous meningioma
  • fibroblastic meningioma
sagittal sinus thrombosis
  • thrombosis of superior longitudinal sinus
- 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

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. Genome-wide association study on bipolar disorder in the Bulgarian population. (PMID: 21771265) Yosifova A … Nakamura Y (Genes, brain, and behavior 2011) 3 44 58
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58
  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 44 58

Products for CTSH Gene

Sources for CTSH Gene

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