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

Gene ID: 10390, updated on 3-May-2020

Summary

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
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

Genomic context

See CEPT1 in Genome Data Viewer
Location:
1p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (111139383..111185104)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111682249..111727724)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cyclin T2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 54 Neighboring gene DNA damage regulated autophagy modulator 2 Neighboring gene uncharacterized LOC107985180 Neighboring gene DENN domain containing 2D Neighboring gene chitinase 3 like 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45223, DKFZp313G0615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
diacylglycerol cholinephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ethanolaminephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphotransferase activity, for other substituted phosphate groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
CDP-choline pathway IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
choline/ethanolaminephosphotransferase 1
NP_001007795.1
NP_001317672.1
NP_006081.1
XP_011538798.1
XP_024305848.1

NCBI Reference Sequences (RefSeq)

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_001007794.2NP_001007795.1  choline/ethanolaminephosphotransferase 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
    Q9Y6K0
    UniProtKB/TrEMBL
    A0A024R0C0
    Related
    ENSP00000441980.1, ENST00000545121.5
    Conserved Domains (1) summary
    cl00453
    Location:43407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase
  2. NM_001330743.2NP_001317672.1  choline/ethanolaminephosphotransferase 1

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Consensus CDS
    CCDS830.1
    UniProtKB/Swiss-Prot
    Q9Y6K0
    UniProtKB/TrEMBL
    A0A024R0C0
    Related
    ENST00000478042.5
    Conserved Domains (1) summary
    cl00453
    Location:43407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase
  3. NM_006090.5NP_006081.1  choline/ethanolaminephosphotransferase 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
    Q9Y6K0
    UniProtKB/TrEMBL
    A0A024R0C0
    Related
    ENSP00000349696.4, ENST00000357172.9
    Conserved Domains (1) summary
    cl00453
    Location:43407
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RNA

  1. NR_138483.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355816
    Related
    ENST00000615636.4
  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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    111139383..111185104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450080.1XP_024305848.1  choline/ethanolaminephosphotransferase 1 isoform X1

    Conserved Domains (1) summary
    cl00453
    Location:43359
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase
  2. XM_011540496.2XP_011538798.1  choline/ethanolaminephosphotransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011538798.1

    Conserved Domains (1) summary
    cl00453
    Location:43359
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RNA

  1. XR_001736911.2 RNA Sequence

    Related
    ENST00000498239.5
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