This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different is... See more...

Aliases for CPZ Gene

Aliases for CPZ Gene

  • Carboxypeptidase Z 2 3 4 5
  • Metallocarboxypeptidase Z 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • VEZT/CPZ Fusion 3
  • EC 3.4.17.10 51
  • EC 3.4.17.3 51
  • EC 3.4.17.- 4
  • EC 3.4.17 51
  • CPZ 5

External Ids for CPZ Gene

Previous GeneCards Identifiers for CPZ Gene

  • GC04P008774
  • GC04P008786
  • GC04P008712

Summaries for CPZ Gene

Entrez Gene Summary for CPZ Gene

  • This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for CPZ Gene

CPZ (Carboxypeptidase Z) is a Protein Coding gene. Diseases associated with CPZ include Locked-In Syndrome and Epithelial-Stromal Tgfbi Dystrophy. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is CPXM1.

UniProtKB/Swiss-Prot Summary for CPZ Gene

  • Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing.

Gene Wiki entry for CPZ Gene

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

Genomics for CPZ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J008591 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.7 706 2.1 GATAD2A CTCF PRDM10 REST KDM1A RCOR2 MTA2 ZIC2 PKNOX1 ZNF24 CPZ lnc-ACOX3-7 GPR78 HMX1
GH04J008594 Enhancer 1 ENCODE dbSUPER 600.7 +1.9 1939 0.2 CEBPG GATAD2A CTCF PRDM10 REST KDM1A RCOR2 JUND MTA2 PKNOX1 CPZ lnc-ACOX3-7 GPR78 HMX1
GH04J008600 Promoter/Enhancer 0.7 EPDnew Ensembl 600.4 +8.2 8241 0.2 ZFHX2 POLR2A EGR2 CPZ lnc-ACOX3-7 GPR78 HMX1
GH04J008621 Promoter 0.3 EPDnew 600.3 +26.8 26827 0.1 lnc-ACOX3-7 CPZ HSALNG0032774 GPR78 HMX1
GH04J007936 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.3 -653.7 -653710 6.3 TEAD4 PRDM10 TARDBP FOXA1 PRDM1 RBFOX2 POLR2A PATZ1 EZH2 ZFX AFAP1 LOC389199 TRMT44 CPZ GPR78 piR-61945-377 PSAPL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the CPZ gene promoter:
  • AREB6
  • MyoD
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CPZ Gene

Genomic Locations for CPZ Gene
chr4:8,592,660-8,619,761
(GRCh38/hg38)
Size:
27,102 bases
Orientation:
Plus strand
chr4:8,594,387-8,621,488
(GRCh37/hg19)
Size:
27,102 bases
Orientation:
Plus strand

Genomic View for CPZ Gene

Genes around CPZ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CPZ Gene

Proteins for CPZ Gene

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

    Protein Symbol:
    Q66K79-CBPZ_HUMAN
    Recommended name:
    Carboxypeptidase Z
    Protein Accession:
    Q66K79
    Secondary Accessions:
    • O00520
    • Q96MX2

    Protein attributes for CPZ Gene

    Size:
    652 amino acids
    Molecular mass:
    73655 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71147.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CPZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPZ Gene

Selected DME Specific Peptides for CPZ Gene

Q66K79:
  • GDYWRLL
  • EGAGYNGW
  • YWWGKVAPETKA
  • YLLGNPRIQ
  • IPFVLSA
  • FSPTPDEKMFK
  • AFDAIDMAWPYFLDC
  • YLHTNCFE
  • PSMNPDGYE
  • DLNRNFPD
  • TYSIGRSF
  • WYSFTGGM

Post-translational modifications for CPZ Gene

  • Glycosylation at Asn281
  • Modification sites at PhosphoSitePlus

Other Protein References for CPZ Gene

Domains & Families for CPZ Gene

Gene Families for CPZ Gene

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

Protein Domains for CPZ Gene

Suggested Antigen Peptide Sequences for CPZ Gene

GenScript: Design optimal peptide antigens:
  • Carboxypeptidase Z (CBPZ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q66K79

UniProtKB/Swiss-Prot:

CBPZ_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with CPZ: view

Function for CPZ Gene

Molecular function for CPZ Gene

UniProtKB/Swiss-Prot Function:
Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2 mM for dansyl-Phe-Ala-Arg {ECO:0000269|PubMed:10080937, ECO:0000269|PubMed:9099699}; KM=2 mM for dansyl-Pro-Ala-Arg {ECO:0000269|PubMed:10080937, ECO:0000269|PubMed:9099699}; pH dependence: Optimum pH is 7.8. {ECO:0000269|PubMed:10080937, ECO:0000269|PubMed:9099699};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 2-mercaptomethyl-3-guanidinoethylthiopropanoic acid (MGTA) and guanidinoethylmercaptosuccinic acid (GEMSA). Inhibited by chelating agents such as EDTA and EGTA.

Enzyme Numbers (IUBMB) for CPZ Gene

Phenotypes From GWAS Catalog for CPZ Gene

Gene Ontology (GO) - Molecular Function for CPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity TAS,IBA 21873635
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with CPZ: view
genes like me logo Genes that share phenotypes with CPZ: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CPZ

CRISPR Products

miRNA for CPZ Gene

miRTarBase miRNAs that target CPZ

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPZ Gene

Localization for CPZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPZ Gene

Secreted, extracellular space, extracellular matrix.

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 CPZ gene
Compartment Confidence
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with CPZ: view

Pathways & Interactions for CPZ Gene

PathCards logo

SuperPathways for CPZ Gene

No Data Available

Interacting Proteins for CPZ Gene

Gene Ontology (GO) - Biological Process for CPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 9099699
GO:0006518 peptide metabolic process IBA 21873635
GO:0016055 Wnt signaling pathway IEA --
GO:0016485 protein processing IBA 21873635
genes like me logo Genes that share ontologies with CPZ: view

No data available for Pathways by source and SIGNOR curated interactions for CPZ Gene

Drugs & Compounds for CPZ Gene

No Compound Related Data Available

Transcripts for CPZ Gene

mRNA/cDNA for CPZ Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: -
SP5:
SP6: -
SP7: - -
SP8: - - -
SP9:
SP10: -

Relevant External Links for CPZ Gene

GeneLoc Exon Structure for
CPZ

Expression for CPZ Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Ovary (x21.9).

Protein differential expression in normal tissues from HIPED for CPZ Gene

This gene is overexpressed in Plasma (48.1) and Urine (8.2).

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



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

SOURCE GeneReport for Unigene cluster for CPZ Gene:

Hs.61995

mRNA Expression by UniProt/SwissProt for CPZ Gene:

Q66K79-CBPZ_HUMAN
Tissue specificity: In placenta, it is present within invasive trophoblasts and in the surrounding extracellular space. Also present in amnion cells, but is not readily apparent in the extracellular matrix of this cell type. Present in normal pituitary gland and neoplastic pituitary gland (especially POMC-, GH- and PRL-producing adenomas) (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for CPZ Gene

  • Muscle(4.4)
  • Skin(2.9)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with CPZ: view

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

Orthologs for CPZ Gene

This gene was present in the common ancestor of animals.

Orthologs for CPZ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CPZ 30 31
  • 97.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CPZ 30 31
  • 86.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CPZ 30 31
  • 84.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cpz 30 17 31
  • 82.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cpz 30
  • 81.9 (n)
Oppossum
(Monodelphis domestica)
Mammalia CPZ 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CPZ 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CPZ 30 31
  • 65.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CPZ 31
  • 11 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cpz 30
  • 65.95 (n)
Str.12000 30
Zebrafish
(Danio rerio)
Actinopterygii cpz 30 31
  • 61.57 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F59A3.1 32
  • 41 (a)
F01D4.4 32
  • 40 (a)
egl-21 31
  • 37 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for CPZ 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CPZ Gene

ENSEMBL:
Gene Tree for CPZ (if available)
TreeFam:
Gene Tree for CPZ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPZ: view image

Paralogs for CPZ Gene

Paralogs for CPZ Gene

(6) SIMAP similar genes for CPZ Gene using alignment to 3 proteins:

  • CBPZ_HUMAN
  • D6RBI5_HUMAN
  • E7EQK1_HUMAN
genes like me logo Genes that share paralogs with CPZ: view

Variants for CPZ Gene

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

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
709574 Benign: not provided 8,606,067(+) A/G MISSENSE_VARIANT
723701 Likely Benign: not provided 8,619,543(+) G/A MISSENSE_VARIANT
725828 Likely Benign: not provided 8,619,500(+) G/A SYNONYMOUS_VARIANT
747259 Likely Benign: not provided 8,614,360(+) C/A SYNONYMOUS_VARIANT
747260 Likely Benign: not provided 8,619,599(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CPZ Gene

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

Variant ID Type Subtype PubMed ID
esv2759222 CNV gain+loss 17122850
esv33219 CNV gain 17666407
esv34196 OTHER inversion 12058347
nsv1005698 CNV gain 25217958
nsv1014219 CNV gain 25217958
nsv10442 CNV gain 18304495
nsv1128032 CNV deletion 24896259
nsv4225 CNV insertion 18451855
nsv4226 CNV deletion 18451855
nsv428437 CNV gain 18775914
nsv470015 CNV loss 18288195
nsv518282 CNV loss 19592680
nsv521867 CNV loss 19592680
nsv829855 CNV gain+loss 17160897
nsv949785 CNV deletion 24416366
nsv949786 CNV duplication 24416366

Variation tolerance for CPZ Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.16; 80.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPZ Gene

Human Gene Mutation Database (HGMD)
CPZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPZ

SNP Genotyping and Copy Number Assay Products

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

Disorders for CPZ Gene

MalaCards: The human disease database

(14) MalaCards diseases for CPZ Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search CPZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPZ

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

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

Publications for CPZ Gene

  1. Cloning and expression of human carboxypeptidase Z, a novel metallocarboxypeptidase. (PMID: 9099699) Song L … Fricker LD (The Journal of biological chemistry 1997) 2 3 4 23
  2. Immunohistochemical localization of carboxypeptidases D, E, and Z in pituitary adenomas and normal human pituitary. (PMID: 12417617) Fan X … Johnson MD (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2002) 3 4 23
  3. Carboxypeptidases from A to z: implications in embryonic development and Wnt binding. (PMID: 11766880) Reznik SE … Fricker LD (Cellular and molecular life sciences : CMLS 2001) 3 4 23
  4. Carboxypeptidase Z is present in the regulated secretory pathway and extracellular matrix in cultured cells and in human tissues. (PMID: 10671522) Novikova EG … Fricker LD (The Journal of biological chemistry 2000) 3 4 23
  5. Purification and characterization of human metallocarboxypeptidase Z. (PMID: 10080937) Novikova EG … Fricker LD (Biochemical and biophysical research communications 1999) 3 4 23

Products for CPZ Gene

  • Signalway ELISA kits for CPZ

Sources for CPZ Gene