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CPZ carboxypeptidase Z [ Homo sapiens (human) ]

Gene ID: 8532, updated on 29-Mar-2023

Summary

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Official Symbol
CPZprovided by HGNC
Official Full Name
carboxypeptidase Zprovided by HGNC
Primary source
HGNC:HGNC:2333
See related
Ensembl:ENSG00000109625 MIM:603105; AllianceGenome:HGNC:2333
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
Summary
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]
Expression
Biased expression in ovary (RPKM 47.9), placenta (RPKM 26.8) and 8 other tissues See more
Orthologs
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Genomic context

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See CPZ in Genome Data Viewer
Location:
4p16.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8592765..8619752)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8572626..8599700)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8594492..8621479)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8582279-8582940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8588835-8589335 Neighboring gene G protein-coupled receptor 78 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8595495-8596169 Neighboring gene uncharacterized LOC124900659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8608601-8609168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8609169-8609736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8632034-8632534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8655353-8655869

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Substrate Specificity and Structural Modeling of Human Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain. Garcia-Pardo J, et al. Int J Mol Sci, 2020 Nov 18. PMID 33217972, Free PMC Article
  2. Carboxypeptidases from A to z: implications in embryonic development and Wnt binding. Reznik SE, et al. Cell Mol Life Sci, 2001 Nov. PMID 11766880
  3. Purification and characterization of human metallocarboxypeptidase Z. Novikova EG, et al. Biochem Biophys Res Commun, 1999 Mar 24. PMID 10080937
  4. RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children. Tang J, et al. Gene, 2018 Jul 1. PMID 29653227
  5. Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. McDaniel LD, et al. PLoS Genet, 2017 May. PMID 28545128, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Substrate Specificity and Structural Modeling of Human Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain.
    Title: Substrate Specificity and Structural Modeling of Human Carboxypeptidase Z: A Unique Protease with a Frizzled-Like Domain.
  2. CPZ rs3796725 and rs3796727 were not associated with neuroblastoma risk in Chinese children..
    Title: RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.
  3. Common variants within CPZ at 4p16 is associated with neuroblastoma.
    Title: Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: GPR78

Homology

Clone Names

  • MGC99682

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metallocarboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in proteolysis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
carboxypeptidase Z
Names
VEZT/CPZ fusion
epididymis secretory sperm binding protein
metallocarboxypeptidase Z

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.

mRNA and Protein(s)

  1. NM_001014447.3 → NP_001014447.2  carboxypeptidase Z isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
    Source sequence(s)
    AC105345, KF495771, KF510872
    Consensus CDS
    CCDS33953.1
    UniProtKB/Swiss-Prot
    Q96MX2
    Related
    ENSP00000354255.4, ENST00000360986.9
    Conserved Domains (3) summary
    cd07447
    Location:40 → 167
    CRD_Carboxypeptidase_Z; Cysteine-rich domain of carboxypeptidase Z, a member of the carboxypeptidase E family
    cd03867
    Location:187 → 501
    M14_CPZ; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase Z subgroup
    cd11308
    Location:505 → 581
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

  2. NM_001014448.3 → NP_001014448.2  carboxypeptidase Z isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two different splice sites, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC105345, KF495771, KF510872
    Consensus CDS
    CCDS43212.1
    Related
    ENSP00000371920.2, ENST00000382480.6
    Conserved Domains (3) summary
    cd11308
    Location:368 → 444
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
    cd03867
    Location:50 → 364
    M14_CPZ; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase Z subgroup
    cl02447
    Location:1 → 30
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

  3. NM_003652.4 → NP_003643.3  carboxypeptidase Z isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC105345, KF495771, KF510872
    Consensus CDS
    CCDS3404.1
    Related
    ENSP00000315074.6, ENST00000315782.6
    Conserved Domains (3) summary
    cd07447
    Location:30 → 156
    CRD_Carboxypeptidase_Z; Cysteine-rich domain of carboxypeptidase Z, a member of the carboxypeptidase E family
    cd11308
    Location:494 → 570
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
    cd03867
    Location:176 → 490
    M14_CPZ; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase Z subgroup

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    8592765..8619752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    8572626..8599700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q66K79.2 GenPept UniProtKB/Swiss-Prot:Q66K79

Gene LinkOut

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