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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
    mouse all
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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

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

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