CPZ carboxypeptidase Z [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (8592765..8619752)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (8572626..8599700)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (8594492..8621479)

Chromosome 4 - NC_000004.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59629 (e-PCR)
- UniSTS:7686

G65151 (e-PCR)
- UniSTS:230679

Cpz (e-PCR), detects polymorphism
- UniSTS:506818

SHGC-142877 (e-PCR)
- UniSTS:171717

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
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

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)

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

O00520, Q66K79, Q96MX2

UniProtKB/TrEMBL

A0A384MDV6

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
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
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

UniProtKB/TrEMBL

A0A384MDV6

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