Description: Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA. RefSeq Summary (NM_001007794): This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr1:111,682,249-111,727,724 Size: 45,476 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr1:111,690,337-111,726,932 Size: 36,596 Coding Exon Count: 8
ID:CEPT1_HUMAN DESCRIPTION: RecName: Full=Choline/ethanolaminephosphotransferase 1; Short=hCEPT1; EC=2.7.8.1; EC=2.7.8.2; FUNCTION: Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP- ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity. CATALYTIC ACTIVITY: CDP-ethanolamine + 1,2-diacylglycerol = CMP + a phosphatidylethanolamine. CATALYTIC ACTIVITY: CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. COFACTOR: Magnesium or manganese. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=37 uM for CDP-choline; KM=101 uM for CDP-ethanolamine; Vmax=10.5 nmol/min/mg enzyme with CDP-choline as substrate; Vmax=4.35 nmol/min/mg enzyme with CDP-ethanolamine as substrate; PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3. PATHWAY: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Ubiquitously expressed. SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase class-I family. SEQUENCE CAUTION: Sequence=AAF61194.1; Type=Frameshift; Positions=276;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CEPT1 CDC HuGE Published Literature: CEPT1 Positive Disease Associations: gamma-Glutamyltransferase Related Studies:
gamma-Glutamyltransferase John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics.
[PubMed 22001757]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6K0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004142 diacylglycerol cholinephosphotransferase activity GO:0004307 ethanolaminephosphotransferase activity GO:0016740 transferase activity GO:0016780 phosphotransferase activity, for other substituted phosphate groups GO:0046872 metal ion binding
Biological Process: GO:0006629 lipid metabolic process GO:0006646 phosphatidylethanolamine biosynthetic process GO:0006656 phosphatidylcholine biosynthetic process GO:0006657 CDP-choline pathway GO:0008654 phospholipid biosynthetic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
