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Aliases for CEPT1 Gene

Aliases for CEPT1 Gene

  • Choline/Ethanolamine Phosphotransferase 1 2 3
  • EC 2.7.8.2 4 64
  • HCEPT1 3 4
  • Choline/Ethanolaminephosphotransferase 1 3
  • Choline/Ethanolaminephosphotransferase 3
  • EC 2.7.8.1 4
  • EC 2.7.8 64

External Ids for CEPT1 Gene

Summaries for CEPT1 Gene

Entrez Gene Summary for CEPT1 Gene

  • Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction. This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEPT1 Gene

CEPT1 (Choline/Ethanolamine Phosphotransferase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include diacylglycerol cholinephosphotransferase activity and ethanolaminephosphotransferase activity. An important paralog of this gene is EPT1.

UniProtKB/Swiss-Prot for CEPT1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEPT1 Gene

Genomics for CEPT1 Gene

Genomic Location for CEPT1 Gene

Start:
111,139,627 bp from pter
End:
111,185,104 bp from pter
Size:
45,478 bases
Orientation:
Plus strand

Genomic View for CEPT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEPT1 Gene

Regulatory Elements for CEPT1 Gene

Proteins for CEPT1 Gene

  • Protein details for CEPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6K0-CEPT1_HUMAN
    Recommended name:
    Choline/ethanolaminephosphotransferase 1
    Protein Accession:
    Q9Y6K0
    Secondary Accessions:
    • Q69YJ9
    • Q9P0Y8

    Protein attributes for CEPT1 Gene

    Size:
    416 amino acids
    Molecular mass:
    46554 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF61194.1; Type=Frameshift; Positions=276; Evidence={ECO:0000305};

neXtProt entry for CEPT1 Gene

Proteomics data for CEPT1 Gene at MOPED

Selected DME Specific Peptides for CEPT1 Gene

Post-translational modifications for CEPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn144

Other Protein References for CEPT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CEPT1 Gene

Protein Domains for CEPT1 Gene

UniProtKB/Swiss-Prot:

CEPT1_HUMAN
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.:
    • Q9Y6K0
genes like me logo Genes that share domains with CEPT1: view

No data available for Gene Families for CEPT1 Gene

Function for CEPT1 Gene

Molecular function for CEPT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=37 uM for CDP-choline {ECO:0000269 PubMed:10191259, ECO:0000269 PubMed:12216837}; KM=101 uM for CDP-ethanolamine {ECO:0000269 PubMed:10191259, ECO:0000269 PubMed:12216837}; Vmax=10.5 nmol/min/mg enzyme with CDP-choline as substrate {ECO:0000269 PubMed:10191259, ECO:0000269 PubMed:12216837}; Vmax=4.35 nmol/min/mg enzyme with CDP-ethanolamine as substrate {ECO:0000269 PubMed:10191259, ECO:0000269 PubMed:12216837};
UniProtKB/Swiss-Prot CatalyticActivity: CDP-ethanolamine + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylethanolamine.
UniProtKB/Swiss-Prot CatalyticActivity: CDP-choline + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylcholine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CEPT1 Gene

Gene Ontology (GO) - Molecular Function for CEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004142 diacylglycerol cholinephosphotransferase activity TAS --
GO:0004307 ethanolaminephosphotransferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CEPT1: view

Phenotypes for CEPT1 Gene

genes like me logo Genes that share phenotypes with CEPT1: view

miRNA for CEPT1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CEPT1 Gene

Localization for CEPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEPT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEPT1 Gene COMPARTMENTS Subcellular localization image for CEPT1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 3
peroxisome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with CEPT1: view

Pathways for CEPT1 Gene

genes like me logo Genes that share pathways with CEPT1: view

UniProtKB/Swiss-Prot Q9Y6K0-CEPT1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2
  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3

Interacting Proteins for CEPT1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349696%0d%0a9606.ENSP00000247992%0d%0a9606.ENSP00000396045%0d%0a9606.ENSP00000312286%0d%0a9606.ENSP00000229266%0d%0a9606.ENSP00000400036%0d%0a
Selected Interacting proteins: ENSP00000349696 Q9Y6K0-CEPT1_HUMAN for CEPT1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 10191259
GO:0006644 phospholipid metabolic process TAS --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway TAS --
genes like me logo Genes that share ontologies with CEPT1: view

Compounds for CEPT1 Gene

(2214) HMDB Compounds for CEPT1 Gene

Compound Synonyms Cas Number PubMed IDs
CDP-Ethanolamine
  • CDP-ethanolamine
3036-18-8
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5
PC(14:0/14:0)
  • Phosphatidylcholine(14:0/14:0)
Not Available

(1) Drugbank Compounds for CEPT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Choline
  • Bilineurine
62-49-7 enzyme substrate
genes like me logo Genes that share compounds with CEPT1: view

Transcripts for CEPT1 Gene

Unigene Clusters for CEPT1 Gene

Choline/ethanolamine phosphotransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEPT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9
SP1: - - -
SP2:
SP3: -
SP4: -
SP5:

Relevant External Links for CEPT1 Gene

GeneLoc Exon Structure for
CEPT1
ECgene alternative splicing isoforms for
CEPT1

Expression for CEPT1 Gene

mRNA expression in normal human tissues for CEPT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEPT1 Gene

SOURCE GeneReport for Unigene cluster for CEPT1 Gene Hs.363572

mRNA Expression by UniProt/SwissProt for CEPT1 Gene

Q9Y6K0-CEPT1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with CEPT1: view

Orthologs for CEPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CEPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEPT1 36
  • 99.84 (n)
  • 100 (a)
CEPT1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEPT1 36
  • 94.47 (n)
  • 98.8 (a)
CEPT1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEPT1 36
  • 92.55 (n)
  • 95.19 (a)
CEPT1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cept1 36
  • 93.83 (n)
  • 98.56 (a)
Cept1 16
Cept1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEPT1 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEPT1 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cept1 36
  • 93.43 (n)
  • 98.8 (a)
chicken
(Gallus gallus)
Aves CEPT1 36
  • 84.29 (n)
  • 90.38 (a)
CEPT1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEPT1 37
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cept1-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cept1 36
  • 76.36 (n)
  • 83.17 (a)
Str.8915 36
zebrafish
(Danio rerio)
Actinopterygii cept1a 37
  • 74 (a)
OneToMany
cept1b 36
  • 70.69 (n)
  • 84.25 (a)
cept1b 37
  • 79 (a)
OneToMany
Dr.669 36
fruit fly
(Drosophila melanogaster)
Insecta bbc 37
  • 50 (a)
OneToMany
CG6016 38
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea cept-1 37
  • 45 (a)
ManyToMany
cept-2 37
  • 42 (a)
ManyToMany
Y49A3A.1 36
  • 51.3 (n)
  • 47.17 (a)
Y49A3A.1 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 37
  • 25 (a)
ManyToMany
CPT1 39
EPT1 37
  • 22 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AAPT1 36
  • 45.04 (n)
  • 31.74 (a)
rice
(Oryza sativa)
Liliopsida Os02g0119800 36
  • 45.73 (n)
  • 32.96 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03223 36
  • 41.3 (n)
  • 32.42 (a)
Species with no ortholog for CEPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CEPT1 Gene

ENSEMBL:
Gene Tree for CEPT1 (if available)
TreeFam:
Gene Tree for CEPT1 (if available)

Paralogs for CEPT1 Gene

Paralogs for CEPT1 Gene

Selected SIMAP similar genes for CEPT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CEPT1: view

Variants for CEPT1 Gene

Sequence variations from dbSNP and Humsavar for CEPT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs325884 -- 111,177,732(-) AAACA(C/T)ATAAT intron-variant
rs325885 -- 111,176,716(+) catat(A/T)cacct intron-variant
rs325886 -- 111,176,432(+) TATTA(A/T)TTTTA intron-variant
rs325887 -- 111,167,964(-) AGTGA(C/G)CTATG intron-variant, downstream-variant-500B
rs325888 -- 111,168,046(-) AAAAA(A/T)TTTAA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CEPT1 Gene

Variant ID Type Subtype PubMed ID
nsv10639 CNV Gain 18304495
esv2455976 CNV Deletion 19546169

Relevant External Links for CEPT1 Gene

HapMap Linkage Disequilibrium report
CEPT1

Disorders for CEPT1 Gene

Relevant External Links for CEPT1

Genetic Association Database (GAD)
CEPT1
Human Genome Epidemiology (HuGE) Navigator
CEPT1
genes like me logo Genes that share disorders with CEPT1: view

No data available for UniProtKB/Swiss-Prot for CEPT1 Gene

Publications for CEPT1 Gene

  1. PC and PE synthesis: mixed micellar analysis of the cholinephosphotransferase and ethanolaminephosphotransferase activities of human choline/ethanolamine phosphotransferase 1 (CEPT1). (PMID: 12216837) Wright M.M. … McMaster C.R. (Lipids 2002) 2 3 4 23 25
  2. Cloning and expression of a human choline/ethanolaminephosphotransferase: synthesis of phosphatidylcholine and phosphatidylethanolamine. (PMID: 10191259) Henneberry A.L. … McMaster C.R. (Biochem. J. 1999) 2 3 4 25
  3. The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity. (PMID: 12221122) Henneberry A.L. … McMaster C.R. (Mol. Biol. Cell 2002) 4 23
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 49

Products for CEPT1 Gene

Sources for CEPT1 Gene

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