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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 61
  • EC 2.7.8.1 4
  • EC 2.7.8 61
  • HCEPT1 4

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

  • 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]

GeneCards Summary for CEPT1 Gene

CEPT1 (Choline/Ethanolamine Phosphotransferase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Acyl chain remodelling of PE. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and ethanolaminephosphotransferase activity. An important paralog of this gene is CHPT1.

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

Enhancers for CEPT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F111185 1.8 FANTOM5 Ensembl ENCODE 20.1 +56.1 56110 21.3 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DRAM2 KCND3-AS1 CEPT1 HIGD1AP12 NRBF2P3 CHI3L2 ENSG00000243960 DDX20 ENSG00000273373 DENND2D
GH01F110406 1.2 ENCODE 23.3 -731.8 -731793 3.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 CEPT1 GSTM2 ENSG00000258634 PROK1 SLC16A4 GNAI3 GSTM5 GSTM3 LAMTOR5-AS1 LAMTOR5
GH01F111689 0.9 Ensembl ENCODE 21.8 +550.6 550575 0.8 HDGF ZNF202 REST OSR2 IKZF1 ZNF26 NBN ZBTB33 ENSG00000243960 DDX20 CEPT1 RNU6-151P KRT18P57 FAM212B ATP5F1 WDR77 C1orf162 UBE2FP3
GH01F111591 1.6 FANTOM5 Ensembl ENCODE 11.4 +455.8 455819 7.6 HDGF ARNT WRNIP1 YBX1 FEZF1 GLIS2 ZNF207 KLF7 FOS SP3 RAP1A DDX20 CEPT1 KRT18P57 RNU6-151P TMIGD3 ADORA3 ENSG00000243960 C1orf162 FAM212B
GH01F110645 1.6 FANTOM5 Ensembl ENCODE 11.4 -492.2 -492224 4.4 FEZF1 ZNF2 FOS SP3 JUNB REST TSHZ1 ZNF488 ZNF518A ZNF264 NRBF2P3 ENSG00000235005 HIGD1AP12 KCNA3 CD53 ENSG00000258634 CEPT1 ENSG00000243960 DRAM2 LRIF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CEPT1 on UCSC Golden Path with GeneCards custom track

Promoters for CEPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000284482 773 3601 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 SP3

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

Selected DME Specific Peptides for CEPT1 Gene

Q9Y6K0:
  • GGVGKNGST
  • SPLGELFDHGCDS
  • DGKQARRTNS
  • YQSLDAIDGKQARRTNS
  • AHWQTYVSG
  • AHMTKSE

Post-translational modifications for CEPT1 Gene

  • Glycosylation at Asn 144
  • Modification sites at PhosphoSitePlus

Other Protein References for CEPT1 Gene

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:0004142 diacylglycerol cholinephosphotransferase activity TAS --
GO:0004307 ethanolaminephosphotransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
GO:0046872 metal ion binding 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

Inhibitory RNA Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEPT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
peroxisome 3
nucleus 3
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CEPT1: view

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

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 TAS --
GO:0006657 CDP-choline pathway IEA --
GO:0008654 phospholipid biosynthetic process IEA --
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: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 148
Manganese Approved Nutra 34
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CEPT1 Gene



Protein tissue co-expression partners for CEPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEPT1 Gene:

CEPT1

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

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 34 35
  • 99.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEPT1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEPT1 34 35
  • 94.47 (n)
mouse
(Mus musculus)
Mammalia Cept1 34 16 35
  • 93.83 (n)
rat
(Rattus norvegicus)
Mammalia Cept1 34
  • 93.43 (n)
dog
(Canis familiaris)
Mammalia CEPT1 34 35
  • 92.55 (n)
oppossum
(Monodelphis domestica)
Mammalia CEPT1 35
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEPT1 34 35
  • 84.29 (n)
lizard
(Anolis carolinensis)
Reptilia CEPT1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cept1 34
  • 76.36 (n)
Str.8915 34
African clawed frog
(Xenopus laevis)
Amphibia cept1-prov 34
zebrafish
(Danio rerio)
Actinopterygii cept1a 35
  • 74 (a)
OneToMany
cept1b 34 35
  • 70.69 (n)
Dr.669 34
fruit fly
(Drosophila melanogaster)
Insecta CG6016 36
  • 54 (a)
bbc 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y49A3A.1 36 34
  • 51.3 (n)
cept-1 35
  • 45 (a)
ManyToMany
cept-2 35
  • 42 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 35 37
  • 25 (a)
ManyToMany
EPT1 35
  • 22 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AAPT1 34
  • 45.04 (n)
rice
(Oryza sativa)
Liliopsida Os02g0119800 34
  • 45.73 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03223 34
  • 41.3 (n)
Species where no ortholog for CEPT1 was found in the sources mined by GeneCards:
  • 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
rs1043096 -- 111,139,685(-) TCTCG(C/G)GTCTT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10494128 -- 111,175,432(+) TTGGA(C/T)CTTGA intron-variant
rs1064008 -- 111,161,224(-) CAAAA(A/C)AACAA nc-transcript-variant, reference, missense
rs1093472 -- 111,154,131(-) caaag(A/C)actaa intron-variant
rs11102217 -- 111,138,342(+) TCAAT(C/G)TGTTT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2455976 CNV deletion 19546169
nsv10639 CNV gain 18304495
nsv1113155 CNV deletion 24896259

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. 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) 3 4 22 64
  3. 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 64
  4. 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 46 64
  5. 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 46 64

Products for CEPT1 Gene

Sources for CEPT1 Gene

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