CPE carboxypeptidase E [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPEprovided by HGNC
Official Full Name: carboxypeptidase Eprovided by HGNC
Primary source: HGNC:HGNC:2303
See related: Ensembl:ENSG00000109472 MIM:114855; AllianceGenome:HGNC:2303
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: CPH; BDVS; IDDHH
Summary: This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]
Expression: Biased expression in brain (RPKM 491.8), prostate (RPKM 192.3) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (165379008..165498547)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (168724998..168844639)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (166300160..166419699)

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?

Carboxypeptidase E conditional knockout mice exhibit learning and memory deficits and neurodegeneration.
Title: Carboxypeptidase E conditional knockout mice exhibit learning and memory deficits and neurodegeneration.
Silencing of Carboxypeptidase E expression inhibits proliferation and invasion of Panc-1 pancreatic cancer cells.
Title: Silencing of Carboxypeptidase E expression inhibits proliferation and invasion of Panc-1 pancreatic cancer cells.
Carboxypeptidase E mRNA: Overexpression predicts recurrence and death in lung adenocarcinoma cancer patients.
Title: Carboxypeptidase E mRNA: Overexpression predicts recurrence and death in lung adenocarcinoma cancer patients.
In silico analysis of non-synonymous missense SNPs (nsSNPs) in CPE, GNAS genes and experimental validation in type II diabetes mellitus through Next Generation Sequencing.
Title: In silico analysis of non-synonymous missense SNPs (nsSNPs) in CPE, GNAS genes and experimental validation in type II diabetes mellitus through Next Generation Sequencing.
Novel interaction between neurotrophic factor-alpha1/carboxypeptidase E and serotonin receptor, 5-HTR1E, protects human neurons against oxidative/neuroexcitotoxic stress via beta-arrestin/ERK signaling.
Title: Novel interaction between neurotrophic factor-α1/carboxypeptidase E and serotonin receptor, 5-HTR1E, protects human neurons against oxidative/neuroexcitotoxic stress via β-arrestin/ERK signaling.
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Title: BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Carboxypeptidase E down-regulation regulates transcriptional and epigenetic profiles in pancreatic cancer cell line: A network analysis.
Title: Carboxypeptidase E down-regulation regulates transcriptional and epigenetic profiles in pancreatic cancer cell line: A network analysis.
Our results implicate a novel role for Carboxypeptidase E that mainly affects the expression of motility-associated genes via several signal pathways
Title: Carboxypeptidase E transmits its anti-migratory function in glioma cells via transcriptional regulation of cell architecture and motility regulating factors.
This study has uncovered a human CPE/NF-alpha1 gene mutation that could lead to comorbidity of dementia and depression, emphasizing the importance of this gene in cognitive function.
Title: A human carboxypeptidase E/NF-α1 gene mutation in an Alzheimer's disease patient leads to dementia and depression in mice.
CPE through its N'-terminal sequence, forms aggregates with Wnt3a and possible endoplasmic reticulum (ER) stress leading to its loss of function.
Title: Carboxypeptidase E (CPE) inhibits the secretion and activity of Wnt3a.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

Description	Tests
BDV syndrome MedGen: C5543403 OMIM: 619326 GeneReviews: Not available	Compare labs

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

Cpe (e-PCR), detects polymorphism
- UniSTS:532483

RH71421 (e-PCR)
- UniSTS:57102

SHGC4-1788 (e-PCR)
- UniSTS:85549

PMC310777P5 (e-PCR)
- UniSTS:272689

A009K44 (e-PCR)
- UniSTS:41010

RH71193 (e-PCR)
- UniSTS:92733

SHGC-59750 (e-PCR)
- UniSTS:1354

SHGC-12636 (e-PCR)
- UniSTS:57702

SHGC-34066 (e-PCR)
- UniSTS:39530

STS-H56546 (e-PCR)
- UniSTS:77689

SHGC-50820 (e-PCR)
- UniSTS:29058

RH17550 (e-PCR)
- UniSTS:87432

D4S2566E (e-PCR)
- UniSTS:150977

G32630 (e-PCR)
- UniSTS:117213

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxypeptidase activity	TAS Traceable Author Statement more info	PubMed
enables cell adhesion molecule binding	IPI Inferred from Physical Interaction more info	PubMed
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables neurexin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac left ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin processing	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in peptide hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in peptide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to secretory granule	IEA Inferred from Electronic Annotation more info
involved_in protein modification process	NAS Non-traceable Author Statement more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in secretory granule membrane	IEA Inferred from Electronic Annotation more info
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: carboxypeptidase E

Names: carbocypeptidase E; carboxypeptidase H; cobalt-stimulated chromaffin granule carboxypeptidase; enkephalin convertase; epididymis secretory sperm binding protein; insulin granule-associated carboxypeptidase; prohormone-processing carboxypeptidase

NP_001864.1

EC 3.4.17.10

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_001873.4 → NP_001864.1 carboxypeptidase E preproprotein

See identical proteins and their annotated locations for NP_001864.1

Status: REVIEWED

Source sequence(s)

AA683379, AA883804, AC012504, X51405

Consensus CDS

CCDS3810.1

UniProtKB/Swiss-Prot

A8K4N1, B3KR42, B4DFN4, D3DP33, P16870, Q9UIU9

UniProtKB/TrEMBL

A0A384N679, B3KXD3

Related

ENSP00000386104.4, ENST00000402744.9

Conserved Domains (2) summary

cd03865
Location:49 → 371

M14_CPE; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase E subgroup

cd11308
Location:375 → 449

Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain