CTSZ Gene (Protein Coding)

Cathepsin Z

GC20M058995
GIFtS:
45
The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be inv... See more...

Aliases for CTSZ Gene

Aliases for CTSZ Gene

  • Cathepsin Z 2 3 4 5
  • Cathepsin X 2 3 4
  • Cysteine-Type Carboxypeptidase 2 3
  • Lysosomal Carboxypeptidase B 2 3
  • Carboxypeptidase LB 2 3
  • Cathepsin IV 2 3
  • Cathepsin B2 2 3
  • Cathepsin Z1 2 3
  • Cathepsin Y 2 3
  • Cathepsin P 3 4
  • EC 3.4.18.1 4 50
  • CTSX 2 3
  • Preprocathepsin P 3
  • CTSZ 5

External Ids for CTSZ Gene

Previous GeneCards Identifiers for CTSZ Gene

  • GC20M057298
  • GC20M058208
  • GC20M058255
  • GC20M057003
  • GC20M057570
  • GC20M054357

Summaries for CTSZ Gene

Entrez Gene Summary for CTSZ Gene

  • The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]

GeneCards Summary for CTSZ Gene

CTSZ (Cathepsin Z) is a Protein Coding gene. Diseases associated with CTSZ include Cercarial Dermatitis and Mitochondrial Complex V Deficiency, Nuclear Type 5. Among its related pathways are Apoptosis Modulation and Signaling and Lysosome. Gene Ontology (GO) annotations related to this gene include cysteine-type peptidase activity. An important paralog of this gene is TINAGL1.

UniProtKB/Swiss-Prot Summary for CTSZ Gene

  • Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (PubMed:10504234). Capable of producing kinin potentiating peptides (By similarity).

Gene Wiki entry for CTSZ Gene

Additional gene information for CTSZ Gene

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

Genomics for CTSZ Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CTSZ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the CTSZ gene promoter:
  • ATF
  • C/EBPalpha
  • C/EBPbeta
  • En-1
  • Pax-6
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for CTSZ Gene

Latest Assembly
chr20:58,985,686-59,008,238
(GRCh38/hg38)
Size:
22,553 bases
Orientation:
Minus strand

Previous Assembly
chr20:57,570,240-57,582,309
(GRCh37/hg19 by Entrez Gene)
Size:
12,070 bases
Orientation:
Minus strand

chr20:57,570,240-57,582,302
(GRCh37/hg19 by Ensembl)
Size:
12,063 bases
Orientation:
Minus strand

Genomic View for CTSZ Gene

Genes around CTSZ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTSZ Gene

Proteins for CTSZ Gene

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

    Protein Symbol:
    Q9UBR2-CATZ_HUMAN
    Recommended name:
    Cathepsin Z
    Protein Accession:
    Q9UBR2
    Secondary Accessions:
    • B2RC40
    • O75331
    • Q9UQV5
    • Q9UQV6

    Protein attributes for CTSZ Gene

    Size:
    303 amino acids
    Molecular mass:
    33868 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTSZ Gene

neXtProt entry for CTSZ Gene

Protein Expression for CTSZ Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CTSZ Gene

Q9UBR2:
  • VGDYGSLSGREKMMAEIY
  • RIVTSTYK
  • EYWIVRNSWGEPWGE
  • TRNQHIPQYCGSCWAH
  • NGPISCGIMATE

Post-translational modifications for CTSZ Gene

  • Glycosylation at Asn184 and Asn224
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CTSZ Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CTSZ Gene

Gene Families for CTSZ Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTSZ Gene

InterPro:
Blocks:
  • Papain cysteine protease (C1) family signature

Suggested Antigen Peptide Sequences for CTSZ Gene

GenScript: Design optimal peptide antigens:
  • Cathepsin X (CATZ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBR2

UniProtKB/Swiss-Prot:

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

Function for CTSZ Gene

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  1. Animal Models for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for CTSZ Gene

UniProtKB/Swiss-Prot Function:
Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (PubMed:10504234). Capable of producing kinin potentiating peptides (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.; EC=3.4.18.1; Evidence={ECO:0000269|PubMed:10504234};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The disulfide bridge formed between Cys-33 in the propeptide and the active site residue Cys-92 may prevent activation of the zymogen through formation of a reversible covalent bond with the active site residue.
GENATLAS Biochemistry:
cathepsin Z,cysteine proteinase,papain superfamily member,ubiquitously expressed,involved normal intracellular degradation

Enzyme Numbers (IUBMB) for CTSZ Gene

Phenotypes From GWAS Catalog for CTSZ Gene

Gene Ontology (GO) - Molecular Function for CTSZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IMP 19433310
GO:0004197 cysteine-type endopeptidase activity IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA,TAS --
genes like me logo Genes that share ontologies with CTSZ: view
genes like me logo Genes that share phenotypes with CTSZ: view

Animal Models for CTSZ Gene

MGI Knock Outs for CTSZ:
  • Ctsz Ctsz<tm1Thre>

Animal Models for research

  • Taconic Biosciences Mouse Models for CTSZ

Inhibitory RNAs for research

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTSZ Gene

Localization for CTSZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSZ Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
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 CTSZ gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 2
nucleus 2
endosome 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTSZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 19433310
GO:0005764 lysosome IDA 19433310
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with CTSZ: view

Pathways & Interactions for CTSZ Gene

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

Gene Ontology (GO) - Biological Process for CTSZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IEA,IMP 19433310
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0010757 negative regulation of plasminogen activation IMP 19433310
GO:0010977 negative regulation of neuron projection development IMP --
genes like me logo Genes that share ontologies with CTSZ: view

No data available for SIGNOR curated interactions for CTSZ Gene

Drugs & Compounds for CTSZ Gene

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(3) Drugs for CTSZ Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
E-64-c Pharma Inhibitor of cysteine proteinases 0
Odanacatib (MK-0822) Pharma Cathepsin K,potent and selective 0

(2) ApexBio Compounds for CTSZ Gene

Compound Action Cas Number
E-64-c Inhibitor of cysteine proteinases 76684-89-4
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
genes like me logo Genes that share compounds with CTSZ: view

Drug products for research

Transcripts for CTSZ Gene

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mRNA/cDNA for CTSZ Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
32 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 CTSZ

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

No ASD Table

Relevant External Links for CTSZ Gene

GeneLoc Exon Structure for
CTSZ

Expression for CTSZ Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for CTSZ Gene
mRNA expression by BioGPS for CTSZ GenemRNA expression by GTEx for CTSZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for CTSZ Gene

This gene is overexpressed in Nasal epithelium (6.3).

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



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

SOURCE GeneReport for Unigene cluster for CTSZ Gene:

Hs.252549

mRNA Expression by UniProt/SwissProt for CTSZ Gene:

Q9UBR2-CATZ_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CTSZ Gene

  • Intestine(4.7)
  • Liver(4.6)
  • Blood(4.4)
  • Pancreas(4.4)
  • Stomach(3.1)
  • Lymph node(3)
  • Spleen(2.9)
  • Lung(2.8)
  • Heart(2.7)
  • Nervous system(2.7)
  • Muscle(2.5)
  • Bone marrow(2.4)
  • Kidney(2.4)
  • Skin(2.4)
  • Thyroid gland(2.2)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with CTSZ: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSZ Gene

Orthologs for CTSZ Gene

This gene was present in the common ancestor of animals.

Orthologs for CTSZ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CTSZ 29 30
  • 99.67 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CTSZ 29 30
  • 85.31 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CTSZ 29 30
  • 84.87 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ctsz 29 16 30
  • 83.92 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ctsz 29
  • 83.33 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CTSZ 30
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CTSZ 30
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CTSZ 29 30
  • 72.68 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 72 (a)
 OneToMany
-- 30
  • 64 (a)
 OneToMany
-- 30
  • 61 (a)
 OneToMany
-- 30
  • 60 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ctsz 29
  • 74.03 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8587 29
Zebrafish
(Danio rerio)
 Actinopterygii ctsz 29 30
  • 66.91 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1216 29
Worm
(Caenorhabditis elegans)
 Secernentea F32B5.8 31
  • 62 (a)
cpz-1 29 30
  • 61.38 (n)
 OneToOne
M04G12.2 31
  • 50 (a)
Species where no ortholog for CTSZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTSZ Gene

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

Paralogs for CTSZ Gene

Paralogs for CTSZ Gene

genes like me logo Genes that share paralogs with CTSZ: view

Variants for CTSZ Gene

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

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs112310043 Benign: not provided 58,997,670(-) C/T
NM_001336.4(CTSZ):c.571G>A (p.Gly191Arg) 		MISSENSE
rs199825459 Benign: not provided 58,997,654(-) A/G
NM_001336.4(CTSZ):c.587T>C (p.Leu196Pro) 		MISSENSE
rs62639970 Benign: not provided 58,996,763(-) G/C
NM_001336.4(CTSZ):c.677C>G (p.Thr226Ser) 		MISSENSE
rs34069356 -- p.Ala286Thr
rs778998634 -- p.Pro36Ser

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

Variant ID Type Subtype PubMed ID
nsv525118 CNV loss 19592680
nsv955144 CNV deletion 24416366

Variation tolerance for CTSZ Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSZ Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CTSZ Gene

MalaCards: The human disease database

(4) MalaCards diseases for CTSZ Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cercarial dermatitis
  • cutaneous schistosomiasis
mitochondrial complex v deficiency, nuclear type 5
  • mc5dn5
gerstmann-straussler disease
  • gsd
primary biliary cholangitis
  • biliary liver cirrhosis
- elite association - COSMIC cancer census association via MalaCards
Search CTSZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTSZ

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

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

Publications for CTSZ Gene

  1. Cathepsin Z, a novel human cysteine proteinase with a short propeptide domain and a unique chromosomal location. (PMID: 9642240) Santamaría I … López-Otín C (The Journal of biological chemistry 1998) 2 3 4 22
  2. Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. (PMID: 18420963) Cooke GS … Hill AV (American journal of respiratory and critical care medicine 2008) 3 22 40
  3. Identification and molecular cloning of cathepsin P, a novel human putative cysteine protease of the papain family. (PMID: 10653162) Pungercar J … Ivanovski G (Pflugers Archiv : European journal of physiology 2000) 3 4 22
  4. Tissue expression and immunolocalization of a novel human cathepsin P. (PMID: 10653163) Pungercar J … Krizaj I (Pflugers Archiv : European journal of physiology 2000) 3 4 22
  5. Murine and human cathepsin Z: cDNA-cloning, characterization of the genes and chromosomal localization. (PMID: 10760573) Deussing J … Peters C (Biochimica et biophysica acta 2000) 3 4 22

ExternalLinks

View latest publications for CTSZ gene in Mastermind

Products for CTSZ Gene

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