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Gene Information
Gene ID:1363
Full Name:carboxypeptidase E
Organism:Homo sapiens (Human)
Genetic Location:4q32.3
Physical Location:166519537-166638925 on NC_000004.10
Gene Type:protein-coding
Orthologs:This gene has Mouse: 12876 Rat: 25669 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:CPE
Original ID2:X51405
Dataset Information
Tissue:SH-SY5Y neuroblastoma cells
Phenotype:Ethanol response
Publication:Thibault et al. Mol Pharmacol. (2000) Expression profiling of neural cells reveals specific patterns of ethanol-responsive gene expression. PubMed
Summary:We used oligonucleotide arrays to study nearly 6000 genes in human SH-SY5Y neuroblastoma cells exposed to chronic ethanol. A set of 42 genes had consistently increased or decreased mRNA abundance after 3 days of ethanol treatment.
Gene Information
Original ID1:X51405
Dataset Information
Tissue:Frontal and motor cortices
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Mayfield et al. J Neurochem. (2002) Patterns of gene expression are altered in the frontal and motor cortices of human alcoholics. PubMed
Summary:We used cDNA microarrays to analyze expression of approximately 10 000 genes in the frontal and motor cortices of three groups of chronic alcoholic and matched control cases. Fluorescent intensity ratios of 1.4-fold or greater in either direction (representing the 99% confidence interval) were used to indicate differentially expressed genes.
Gene Information
Original ID1:CPE
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene SNP Information
SNPAbuser/Control RatioCluster
rs1370687      dbSNP1.2317
rs1837171      dbSNP1.2317
Association Dataset
Publication:Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_001873.2NP_001864.1NC_000004.10 range: 166519537..166638925
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005576extracellular regionCellular ComponentIEA
GO:0005886plasma membraneCellular ComponentTAS (9019408)
GO:0004180carboxypeptidase activityMolecular FunctionTAS (9019408)
GO:0008270zinc ion bindingMolecular FunctionIEA
GO:0008237metallopeptidase activityMolecular FunctionIEA
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0004183carboxypeptidase E activityMolecular FunctionIEA
GO:0004182carboxypeptidase A activityMolecular FunctionIEA
GO:0006464protein modification processBiological ProcessNAS (2334405)
GO:0007218neuropeptide signaling pathwayBiological ProcessNAS (2334405)
GO:0008152metabolic processBiological ProcessTAS (7663508)
GO:0006508proteolysisBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:1363
HuGE Navigator:1363