Human Gene CEPT1 (ENST00000357172.9_6) from GENCODE V47lift37
  Description: choline/ethanolamine phosphotransferase 1, transcript variant 5 (from RefSeq NR_138484.2)
Gencode Transcript: ENST00000357172.9_6
Gencode Gene: ENSG00000134255.16_10
Transcript (Including UTRs)
   Position: hg19 chr1:111,682,845-111,727,726 Size: 44,882 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr1:111,690,337-111,726,932 Size: 36,596 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:111,682,845-111,727,726)mRNA (may differ from genome)Protein (416 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 223.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.20158-0.235 Picture PostScript Text
3' UTR -173.20794-0.218 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000462 - CDP-OH_P_trans
IPR014472 - CHOPT

Pfam Domains:
PF01066 - CDP-alcohol phosphatidyltransferase

SCOP Domains:
48173 - Cryptochrome/photolyase FAD-binding domain
161111 - Cation efflux protein transmembrane domain-like

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
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 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  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

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  BC049196 - Homo sapiens choline/ethanolamine phosphotransferase 1, mRNA (cDNA clone MGC:54042 IMAGE:5226538), complete cds.
AL833102 - Homo sapiens mRNA; cDNA DKFZp313G0615 (from clone DKFZp313G0615).
AK023381 - Homo sapiens cDNA FLJ13319 fis, clone OVARC1001610, highly similar to Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 1, mRNA.
AF068302 - Homo sapiens choline/ethanolaminephosphotransferase (CEPT1) mRNA, complete cds.
JD350542 - Sequence 331566 from Patent EP1572962.
AF138862 - Homo sapiens clone FLB4244 mRNA sequence.
CU689442 - Synthetic construct Homo sapiens gateway clone IMAGE:100019295 5' read CEPT1 mRNA.
HQ447330 - Synthetic construct Homo sapiens clone IMAGE:100070647; CCSB009979_02 choline/ethanolamine phosphotransferase 1 (CEPT1) gene, encodes complete protein.
KJ898198 - Synthetic construct Homo sapiens clone ccsbBroadEn_07592 CEPT1 gene, encodes complete protein.
AL832104 - Homo sapiens mRNA; cDNA DKFZp313C168 (from clone DKFZp313C168).
AK095229 - Homo sapiens cDNA FLJ37910 fis, clone CTONG1000040.
JD295545 - Sequence 276569 from Patent EP1572962.
JD136974 - Sequence 117998 from Patent EP1572962.
JD299546 - Sequence 280570 from Patent EP1572962.
JD328696 - Sequence 309720 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7782 - plasmalogen biosynthesis
PWY3O-450 - phosphatidylcholine biosynthesis
PWY4FS-6 - phosphatidylethanolamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein Q9Y6K0 (Reactome details) participates in the following event(s):

R-HSA-1482961 CDP-Cho and DAG are converted to PC by CEPT1 at the ER membrane
R-HSA-1482962 CDP-ETA and DAG are converted to PE by CEPT1/EPT1
R-HSA-1483191 Synthesis of PC
R-HSA-1483213 Synthesis of PE
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CEPT1 , CEPT1_HUMAN, ENST00000357172.1, ENST00000357172.2, ENST00000357172.3, ENST00000357172.4, ENST00000357172.5, ENST00000357172.6, ENST00000357172.7, ENST00000357172.8, NR_138484, PRO1101, Q69YJ9, Q9P0Y8, Q9Y6K0, uc317zxn.1, uc317zxn.2
UCSC ID: ENST00000357172.9_6
RefSeq Accession: NM_006090.5
Protein: Q9Y6K0 (aka CEPT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.