CTSZ cathepsin Z [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSZprovided by HGNC
Official Full Name: cathepsin Zprovided by HGNC
Primary source: HGNC:HGNC:2547
See related: Ensembl:ENSG00000101160 MIM:603169; AllianceGenome:HGNC:2547
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: CTSX
Summary: 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]
Expression: Ubiquitous expression in lymph node (RPKM 146.3), appendix (RPKM 144.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (58995185..59007254, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60778286..60790364, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57570240..57582309, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PDCD4 interacting with PIK3CB and CTSZ promotes the apoptosis of multiple myeloma cells.
Title: PDCD4 interacting with PIK3CB and CTSZ promotes the apoptosis of multiple myeloma cells.
Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension.
Title: Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension.
Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.
Title: Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.
Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration.
Title: Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration.
Upregulation of Cathepsin X in Glioblastoma: Interplay with gamma-Enolase and the Effects of Selective Cathepsin X Inhibitors.
Title: Upregulation of Cathepsin X in Glioblastoma: Interplay with γ-Enolase and the Effects of Selective Cathepsin X Inhibitors.
Decreased levels of cathepsin Z mRNA expressed by immune blood cells: diagnostic and prognostic implications in prostate cancer.
Title: Decreased levels of cathepsin Z mRNA expressed by immune blood cells: diagnostic and prognostic implications in prostate cancer.
our present study revealed that KMT2A epigenetically promotes cancer progression by targeting CTSZ, which has specific functions in cancer invasion and metastasis.
Title: KMT2A histone methyltransferase contributes to colorectal cancer development by promoting cathepsin Z transcriptional activation.
CTSZ polymorphisms are associated with jaundice-stage progression in primary biliary cholangitis.
Title: NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.
results indicate that altered expression and localization of cathepsin Z in hepatocytes are characteristic features of primary biliary cholangitis (PBC) and other cholestatic liver diseases, and are implicated in the progression of PBC.
Title: Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis.
Deguelin inhibits the activation of CtsZ downstream FAK/Src/Paxillin signaling.
Title: Deguelin attenuates non-small cell lung cancer cell metastasis through inhibiting the CtsZ/FAK signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of cathepsin Z (CTSZ) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides upregulate gene expression of cathepsin Z (CTSZ) in U-937 macrophages	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin Z (CTSZ) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CTSZ_1953 (e-PCR)
- UniSTS:280628

G62034 (e-PCR)
- UniSTS:139126

RH48060 (e-PCR)
- UniSTS:25240

A004R34 (e-PCR)
- UniSTS:40603

SHGC-31778 (e-PCR)
- UniSTS:47319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxypeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type carboxypeptidase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type peptidase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiotensin maturation	TAS Traceable Author Statement more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of plasminogen activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in COPII-coated ER to Golgi transport vesicle	TAS Traceable Author Statement more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cathepsin Z

Names: carboxypeptidase LB; cathepsin B2; cathepsin IV; cathepsin P; cathepsin X; cathepsin Y; cathepsin Z1; cysteine-type carboxypeptidase; lysosomal carboxypeptidase B; preprocathepsin P

NP_001327.2

EC 3.4.18.1

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.

Genomic

NG_023300.2 RefSeqGene

Range

5000..17069

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001336.4 → NP_001327.2 cathepsin Z preproprotein

See identical proteins and their annotated locations for NP_001327.2

Status: REVIEWED

Source sequence(s)

AL109840

Consensus CDS

CCDS13474.1

UniProtKB/Swiss-Prot

B2RC40, O75331, Q9UBR2, Q9UQV5, Q9UQV6

UniProtKB/TrEMBL

Q5U000

Related

ENSP00000217131.5, ENST00000217131.6

Conserved Domains (1) summary

cd02698
Location:62 → 302

Peptidase_C1A_CathepsinX; Cathepsin X; the only papain-like lysosomal cysteine peptidase exhibiting carboxymonopeptidase activity. It can also act as a carboxydipeptidase, like cathepsin B, but has been shown to preferentially cleave substrates through a monopeptidyl ...