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CEPT1 choline/ethanolamine phosphotransferase 1 [ Homo sapiens (human) ]

Gene ID: 10390, updated on 3-Apr-2024

Summary

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Official Symbol
CEPT1provided by HGNC
Official Full Name
choline/ethanolamine phosphotransferase 1provided by HGNC
Primary source
HGNC:HGNC:24289
See related
Ensembl:ENSG00000134255 MIM:616751; AllianceGenome:HGNC:24289
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 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]
Expression
Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111139499..111185104)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111154313..111199909)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111682121..111727726)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cyclin T2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 54 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:111644109-111645308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1481 Neighboring gene DNA damage regulated autophagy modulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1482 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111729927-111731126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1484 Neighboring gene DENN domain containing 2D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1182 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:111756584-111757783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1491 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111777146-111778345 Neighboring gene chitinase 3 like 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Structural basis for catalysis of human choline/ethanolamine phosphotransferase 1. Wang Z, et al. Nat Commun, 2023 May 3. PMID 37137909, Free PMC Article
  2. CEPT1-Mediated Phospholipogenesis Regulates Endothelial Cell Function and Ischemia-Induced Angiogenesis Through PPARα. Zayed MA, et al. Diabetes, 2021 Feb. PMID 33214136, Free PMC Article
  3. Locations and contributions of the phosphotransferases EPT1 and CEPT1 to the biosynthesis of ethanolamine phospholipids. Horibata Y, et al. J Lipid Res, 2020 Aug. PMID 32576654, Free PMC Article
  4. Association of the -629C>A (rs1800775) CETP Polymorphism with the Development of Essential Hypertension in Mexican Population. Colima-Fausto AG, et al. Genet Test Mol Biomarkers, 2020 Jul. PMID 32551884
  5. The major sites of cellular phospholipid synthesis and molecular determinants of Fatty Acid and lipid head group specificity. Henneberry AL, et al. Mol Biol Cell, 2002 Sep. PMID 12221122, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural basis for catalysis of human choline/ethanolamine phosphotransferase 1.
    Title: Structural basis for catalysis of human choline/ethanolamine phosphotransferase 1.
  2. Differential contributions of choline phosphotransferases CPT1 and CEPT1 to the biosynthesis of choline phospholipids.
    Title: Differential contributions of choline phosphotransferases CPT1 and CEPT1 to the biosynthesis of choline phospholipids.
  3. Locations and contributions of the phosphotransferases EPT1 and CEPT1 to the biosynthesis of ethanolamine phospholipids.
    Title: Locations and contributions of the phosphotransferases EPT1 and CEPT1 to the biosynthesis of ethanolamine phospholipids.
  4. CEPT1-Mediated Phospholipogenesis Regulates Endothelial Cell Function and Ischemia-Induced Angiogenesis Through PPARalpha.
    Title: CEPT1-Mediated Phospholipogenesis Regulates Endothelial Cell Function and Ischemia-Induced Angiogenesis Through PPARα.
  5. Association of the -629C>A (rs1800775) CETP Polymorphism with the Development of Essential Hypertension in Mexican Population.
    Title: Association of the -629C>A (rs1800775) CETP Polymorphism with the Development of Essential Hypertension in Mexican Population.
  6. 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.
  7. A yeast expression system devoid of endogenous cholinephosphotransferase and ethanolaminephosphotransferase activities to assess the diradylglycerol specificity of CEPT1
    Title: PC and PE synthesis: mixed micellar analysis of the cholinephosphotransferase and ethanolaminephosphotransferase activities of human choline/ethanolamine phosphotransferase 1 (CEPT1).
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that CEPT1 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with CEPT1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC45223, DKFZp313G0615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-alkenyl-2-acylglycerol choline phosphotransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables diacylglycerol cholinephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ethanolaminephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in CDP-choline pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
choline/ethanolaminephosphotransferase 1
Names
1-alkenyl-2-acylglycerol choline phosphotransferase
NP_001007795.1
NP_001317672.1
NP_001397773.1
NP_006081.1
XP_011538798.1
XP_047285865.1
XP_054189803.1
XP_054189804.1

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)

  1. NM_001007794.3 → NP_001007795.1  choline/ethanolaminephosphotransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_001007795.1

    Status: REVIEWED

    Source sequence(s)
    AF068302, AL355816, BC049196, BU618567
    Consensus CDS
    CCDS830.1
    UniProtKB/Swiss-Prot
    Q69YJ9, Q9P0Y8, Q9Y6K0
    UniProtKB/TrEMBL
    B3KN25
    Related
    ENSP00000441980.1, ENST00000545121.5
    Conserved Domains (1) summary
    cl00453
    Location:43 → 407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

  2. NM_001330743.2 → NP_001317672.1  choline/ethanolaminephosphotransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS830.1
    UniProtKB/Swiss-Prot
    Q69YJ9, Q9P0Y8, Q9Y6K0
    UniProtKB/TrEMBL
    B3KN25
    Related
    ENST00000478042.5
    Conserved Domains (1) summary
    cl00453
    Location:43 → 407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

  3. NM_001410844.1 → NP_001397773.1  choline/ethanolaminephosphotransferase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS91024.1
    UniProtKB/TrEMBL
    A0A8V8TRF3
    Related
    ENSP00000515162.1, ENST00000700750.1

  4. NM_006090.5 → NP_006081.1  choline/ethanolaminephosphotransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_006081.1

    Status: REVIEWED

    Source sequence(s)
    AF068302, AL355816, BU618567, CB992025
    Consensus CDS
    CCDS830.1
    UniProtKB/Swiss-Prot
    Q69YJ9, Q9P0Y8, Q9Y6K0
    UniProtKB/TrEMBL
    B3KN25
    Related
    ENSP00000349696.4, ENST00000357172.9
    Conserved Domains (1) summary
    cl00453
    Location:43 → 407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RNA

  1. NR_138483.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Related
    ENST00000700752.1

  2. NR_138484.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816

  3. NR_138485.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    111139499..111185104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429909.1 → XP_047285865.1  choline/ethanolaminephosphotransferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TQ23
    Related
    ENSP00000515163.1, ENST00000700751.1

  2. XM_011540496.3 → XP_011538798.1  choline/ethanolaminephosphotransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011538798.1

    UniProtKB/TrEMBL
    A0A8V8TRF3, B3KN25
    Conserved Domains (1) summary
    cl00453
    Location:43 → 359
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    111154313..111199909
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333829.1 → XP_054189804.1  choline/ethanolaminephosphotransferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TQ23

  2. XM_054333828.1 → XP_054189803.1  choline/ethanolaminephosphotransferase 1 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TRF3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6K0.1 GenPept UniProtKB/Swiss-Prot:Q9Y6K0

Gene LinkOut

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