CPQ carboxypeptidase Q [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPQprovided by HGNC
Official Full Name: carboxypeptidase Qprovided by HGNC
Primary source: HGNC:HGNC:16910
See related: Ensembl:ENSG00000104324 MIM:618754; AllianceGenome:HGNC:16910
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: LDP; PGCP
Summary: This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]
Expression: Broad expression in thyroid (RPKM 83.5), ovary (RPKM 28.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (96645242..97143501)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (97770966..98269215)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (97657470..98155729)

Chromosome 8 - NC_000008.11 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: HPA RNA-seq normal tissues 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?

PGCP negatively associates with Wnt/beta-catenin signaling during metastasis. Targeting this regulation may represent a novel and effective therapeutic option for liver cancer by preventing metastatic activity of primary tumor cells.
Title: Plasma glutamate carboxypeptidase is a negative regulator in liver cancer metastasis.
Data provide evidence that PGCP promoter hypermethylation is associated with human bronchial epithelial cells immortalization and lung cancer.
Title: Hypermethylation of PGCP gene is associated with human bronchial epithelial cells immortalization.
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.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

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

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFM198ZF10 (e-PCR)
- UniSTS:30994

D8S1377E (e-PCR)
- UniSTS:25121

WI-15529 (e-PCR)
- UniSTS:4643

G54714 (e-PCR)
- UniSTS:117816

SHGC-108118 (e-PCR)
- UniSTS:170559

G59464 (e-PCR)
- UniSTS:136770

D8S1512 (e-PCR)
- UniSTS:44876

SHGC-112347 (e-PCR)
- UniSTS:184687

RH92662 (e-PCR)
- UniSTS:86384

SHGC-142280 (e-PCR)
- UniSTS:184701

RH122258 (e-PCR)
- UniSTS:134806

D7S2217 (e-PCR)
- UniSTS:69070

SHGC-143008 (e-PCR)
- UniSTS:171760

WI-22073 (e-PCR)
- UniSTS:24054

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxypeptidase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metallodipeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallodipeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in thyroid hormone generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in thyroid hormone generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
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 intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: carboxypeptidase Q

Names: Ser-Met dipeptidase; aminopeptidase; blood plasma glutamate carboxypeptidase; lysosomal dipeptidase

NP_057218.1

EC 3.4.17.-

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_016134.4 → NP_057218.1 carboxypeptidase Q preproprotein

See identical proteins and their annotated locations for NP_057218.1

Status: REVIEWED

Source sequence(s)

AA492294, AK315447, DA699663

Consensus CDS

CCDS6273.1

UniProtKB/Swiss-Prot

B2RD88, Q8NBZ1, Q9UNM8, Q9Y5X6, Q9Y646

UniProtKB/TrEMBL

B4DJC2

Related

ENSP00000220763.5, ENST00000220763.10

Conserved Domains (2) summary

cd03883
Location:47 → 449

M28_Pgcp_like; M28 Zn-Peptidase Plasma glutamate carboxypeptidase

cd04815
Location:130 → 256

PA_M28_2; PA_M28_2: Protease-associated (PA) domain, peptidase family M28, subfamily-2. A subfamily of PA-domain containing proteins belonging to the peptidase family M28. Family M28 contains aminopeptidases and carboxypeptidases, and has co-catalytic zinc ions. ...