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    CPE carboxypeptidase E [ Homo sapiens ]

    Gene ID: 1363, updated on 11-May-2012
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    Summary

    Official Symbol
    CPEprovided by HGNC
    Official Full Name
    carboxypeptidase Eprovided by HGNC
    Primary source
    HGNC:2303
    See related
    Ensembl:ENSG00000109472; HPRD:00272; MIM:114855; Vega:OTTHUMG00000150252
    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 carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein. The protein specifically binds regulated secretory pathway proteins, including prohormones, but not constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    4q32.3
    Sequence :
    Chromosome: 4; NC_000004.11 (166300097..166419482)
    See CPE in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene kelch-like 2, Mayven (Drosophila) Neighboring gene glycerol kinase 3 pseudogene Neighboring gene methylsterol monooxygenase 1 Neighboring gene microRNA 578 Neighboring gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1 Neighboring gene nucleolar protein 8 pseudogene Neighboring gene tripartite motif-containing protein 38-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Differential regulation and localization of carboxypeptidase D and carboxypeptidase E in human and mouse β-cells. Chu KY, et al. Islets, 2011 Jul-Aug. PMID 21628999.
    3. An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers. Lee TK, et al. J Clin Invest, 2011 Mar. PMID 21285511.
    4. Carboxypeptidase E: elevated expression correlated with tumor growth and metastasis in pheochromocytomas and other cancers. Murthy SR, et al. Cell Mol Neurobiol, 2010 Nov. PMID 21061162.
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.

    See all (48) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Neither high glucose nor insulin (with low glucose) regulates beta-cell CPE (but either up-regulates CPD).
      Title: Differential regulation and localization of carboxypeptidase D and carboxypeptidase E in human and mouse β-cells.
    2. an N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers
      Title: An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers.
    3. CPE may play a role in promoting tumor growth and invasion.
      Title: Carboxypeptidase E: elevated expression correlated with tumor growth and metastasis in pheochromocytomas and other cancers.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. 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.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of alcohol dependence implicates a region on chromosome 11.
    7. the severity of the coronary atherosclerosis estimated by Gensini score was significantly influenced by the presence of the A2925G mutant and G2855A mutant of the CPE gene
      Title: Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis.
    8. polymorphism in the CPE exon5 gene may contribute to the angiographical characteristics of coronary atherosclerosis in the Chinese population
      Title: Association of human carboxypeptidase E exon5 gene polymorphisms with angiographical characteristics of coronary atherosclerosis in a Chinese population.
    9. Carboxypeptidase E may be a key molecule to regulate Caspr2 (carboxypeptidase E) trafficking to the cell membrane.
      Title: Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS.
    10. CPH-Abs may allow discrimination of a more latent subset of adult-onset autoimmune diabetes (LADA).
      Title: Carboxypeptidase-H autoantibodies differentiate a more latent subset of autoimmune diabetes from phenotypic type 2 diabetes among Chinese adults.
    Submit: New GeneRIF Correction See all (19)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P16870 P23560 BDNF    HPRD  PubMed  
    P16870 P06307 CCK    HPRD  PubMed  
    P16870 Q12873 CHD3    HPRD  PubMed  
    P16870 P01350 GAST    HPRD  PubMed  
    P16870 P01275 GCG    HPRD  PubMed  
    P16870 Q12789 GTF3C1    HPRD  PubMed  
    P16870 P01308 INS    HPRD  PubMed  
    P16870 Q5T3J3 LRIF1    HPRD  PubMed  
    P16870 Q9Y3C7 MED31    HPRD  PubMed  
    P16870 P30990 NTS    HPRD  PubMed  
    P16870 P20382 PMCH    HPRD  PubMed  
    P16870 Q14181 POLA2    HPRD  PubMed  
    P16870 Q9Y2S7 POLDIP2    HPRD  PubMed  
    P16870 Q9HCK4 ROBO2    HPRD  PubMed  
    P16870 P27694 RPA1    HPRD  PubMed  
    P16870 P20396 TRH    HPRD  PubMed  
    P16870 Q9BVJ6 UTP14A    HPRD  PubMed  
    BioGRID:107755 BioGRID:107532 CHD3    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:109230 GTF3C1    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:117176 POLA2    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:117531 POLDIP2    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:112019 ROBO2    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:112037 RPA1    BioGRID  PubMed Two-hybrid 
    BioGRID:107755 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107755 BioGRID:116026 UTP14A    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 trafficking events, organism-specific biosystem
      Arf6 trafficking events
    • Diabetes pathways, organism-specific biosystem (from REACTOME)
      Diabetes pathways, organism-specific biosystemThis module groups several normal processes that have key roles in the synthesis and function of insulin, insulin-like growth factors and ghrelin, and whose derangement is thus central to the pathoge...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Insulin Synthesis and Processing, organism-specific biosystem (from REACTOME)
      Insulin Synthesis and Processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carboxypeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metallocarboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    neurexin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cardiac left ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    insulin processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    neuropeptide signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    protein localization in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein modification process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    secretory granule TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    carboxypeptidase E
    Names
    carboxypeptidase E
    CPH
    carboxypeptidase H
    enkephalin convertase
    prohormone-processing carboxypeptidase
    insulin granule-associated carboxypeptidase
    cobalt-stimulated chromaffin granule carboxypeptidase
    NP_001864.1
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    NCBI Reference Sequences (RefSeq)

    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_001873.2 → NP_001864.1  carboxypeptidase E preproprotein

      Status: REVIEWED

      Source sequence(s)
      AI340177, BC053612, BM271829, X51405
      Consensus CDS
      CCDS3810.1
      UniProtKB/Swiss-Prot
      P16870
      Related
      ENSP00000386104, OTTHUMP00000196776, ENST00000402744, OTTHUMT00000317094
      Conserved Domains (2) summary
      cd03865
      Location:49 – 371
      Blast Score: 1731
      M14_CPE; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase E subgroup
      cd11308
      Location:375 – 445
      Blast Score: 333
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      166300097..166419482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      162051907..162171495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB006898.2 BAA86053.1
    genomic AC012504.7 (55989..175377) None
    genomic CH471056.2 EAX04817.1
      EAX04818.1
      EAX04819.1
    mRNA AI340177.1 None
    mRNA AK090962.1 BAG52254.1
    mRNA AK127165.1 BAG54445.1
    mRNA AK290996.1 BAF83685.1
    mRNA AK294175.1 BAG57495.1
    mRNA BC033866.1 AAH33866.1
    mRNA BC053612.1 AAH53612.1
    mRNA BM271829.1 None
    mRNA X51405.1 CAA35767.1
    other-genetic DQ893322.2 ABM84248.1
    other-genetic DQ896637.2 ABM87636.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16870.1 GenPept UniProtKB/Swiss-Prot:P16870
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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