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Aliases for CEPT1 Gene

Aliases for CEPT1 Gene

  • Choline/Ethanolamine Phosphotransferase 1 2 3 5
  • EC 2.7.8.2 4 63
  • HCEPT1 3 4
  • Choline/Ethanolaminephosphotransferase 3
  • EC 2.7.8.1 4
  • EC 2.7.8 63

External Ids for CEPT1 Gene

Previous GeneCards Identifiers for CEPT1 Gene

  • GC01P112099
  • GC01P110554
  • GC01P110784
  • GC01P110981
  • GC01P111394
  • GC01P111682
  • GC01P109554

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 Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups 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

Regulatory Elements for CEPT1 Gene

Promoters for CEPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEPT1 Gene

Chromosome:
1
Start:
111,139,627 bp from pter
End:
111,185,102 bp from pter
Size:
45,476 bases
Orientation:
Plus strand

Genomic View for CEPT1 Gene

Genes around CEPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 144
  • Modification sites at PhosphoSitePlus

Other Protein References for CEPT1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CEPT1

Domains & Families for CEPT1 Gene

Protein Domains for CEPT1 Gene

Suggested Antigen Peptide Sequences for CEPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6K0

UniProtKB/Swiss-Prot:

CEPT1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
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:0004307 ethanolaminephosphotransferase activity IEA,TAS --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
genes like me logo Genes that share ontologies with CEPT1: view
genes like me logo Genes that share phenotypes with CEPT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CEPT1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 3
peroxisome 3
plasma membrane 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CEPT1 Gene

Pathways & Interactions 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.ENSP00000283415%0d%0a9606.ENSP00000292823%0d%0a9606.ENSP00000302177%0d%0a9606.ENSP00000308258%0d%0a9606.ENSP00000312286%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:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process IEA,TAS --
GO:0006657 CDP-choline pathway TAS --
genes like me logo Genes that share ontologies with CEPT1: view

No data available for SIGNOR curated interactions for CEPT1 Gene

Drugs & Compounds for CEPT1 Gene

(3) Drugs for CEPT1 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 130
Manganese Pharma 32
Magnesium Nutra 0

(13) Additional Compounds for CEPT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDP-Ethanolamine
  • CDP Ethanolamine
  • CDP-Ethanolamine
  • CDPethanolamine
  • Cytidine diphosphate ethanolamine
3036-18-8
Citicoline
  • Audes
  • CDP-Choline
  • Cereb
  • Choline 5'-cytidine diphosphate
  • Choline cytidine diphosphate
987-78-0
CMP-2-aminoethylphosphonate
CMP-N-trimethyl-2-aminoethylphosphonate
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
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

Protein differential expression in normal tissues from HIPED for CEPT1 Gene

This gene is overexpressed in Breast (12.0), Monocytes (11.5), and Placenta (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with CEPT1: view

Protein tissue co-expression partners for CEPT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CEPT1 Gene

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
  • 100 (a)
OneToOne
CEPT1 35
  • 99.84 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CEPT1 36
  • 99 (a)
OneToOne
CEPT1 35
  • 94.47 (n)
  • 98.8 (a)
dog
(Canis familiaris)
Mammalia CEPT1 35
  • 92.55 (n)
  • 95.19 (a)
CEPT1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cept1 16
Cept1 36
  • 99 (a)
OneToOne
Cept1 35
  • 93.83 (n)
  • 98.56 (a)
oppossum
(Monodelphis domestica)
Mammalia CEPT1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEPT1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cept1 35
  • 93.43 (n)
  • 98.8 (a)
chicken
(Gallus gallus)
Aves CEPT1 35
  • 84.29 (n)
  • 90.38 (a)
CEPT1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEPT1 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cept1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cept1 35
  • 76.36 (n)
  • 83.17 (a)
Str.8915 35
zebrafish
(Danio rerio)
Actinopterygii cept1b 35
  • 70.69 (n)
  • 84.25 (a)
Dr.669 35
cept1a 36
  • 74 (a)
OneToMany
cept1b 36
  • 79 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bbc 36
  • 50 (a)
OneToMany
CG6016 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea Y49A3A.1 37
  • 46 (a)
cept-1 36
  • 45 (a)
ManyToMany
cept-2 36
  • 42 (a)
ManyToMany
Y49A3A.1 35
  • 51.3 (n)
  • 47.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 36
  • 25 (a)
ManyToMany
EPT1 36
  • 22 (a)
ManyToMany
CPT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AAPT1 35
  • 45.04 (n)
  • 31.74 (a)
rice
(Oryza sativa)
Liliopsida Os02g0119800 35
  • 45.73 (n)
  • 32.96 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03223 35
  • 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

(1) 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
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
rs325889 -- 111,168,286(+) AATAG(C/G)GCTTA intron-variant
rs612161 -- 111,165,290(-) CGGGC(A/G)GATCA intron-variant

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

Variation tolerance for CEPT1 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEPT1 Gene

HapMap Linkage Disequilibrium report
CEPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEPT1 Gene

Disorders for CEPT1 Gene

Relevant External Links for CEPT1

Genetic Association Database (GAD)
CEPT1
Human Genome Epidemiology (HuGE) Navigator
CEPT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEPT1

No disorders were found for CEPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  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 25
  3. HIV/AIDS. Persistence by proliferation? (PMID: 25013050) Margolis D. … Bushman F. (Science 2014) 3
  4. HIV latency. Specific HIV integration sites are linked to clonal expansion and persistence of infected cells. (PMID: 24968937) Maldarelli F. … Hughes S.H. (Science 2014) 3
  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

Products for CEPT1 Gene

Sources for CEPT1 Gene

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