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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 58
  • EC 2.7.8.1 4
  • EC 2.7.8 58
  • 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 Glycerophospholipid Biosynthetic Pathway. 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.

Additional gene information for CEPT1 Gene

No data available for CIViC summary , 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
GH01H111189 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.8 +58.5 58474 16.6 HDGF PKNOX1 FOXA2 SIN3A ZNF766 GATA2 ZNF143 ZNF207 FOS ATF7 DRAM2 CEPT1 DENND2D CHI3L2 DDX20 CD53 ENSG00000243960 LRIF1 RAP1A C1orf162
GH01H110334 1.7 FANTOM5 ENCODE dbSUPER 34.6 -801.0 -800978 7.4 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A PPARGC1A MEF2D ZNF610 ENSG00000258634 STRIP1 CEPT1 RBM15 ENSG00000273373 DRAM2 PROK1 DENND2D LAMTOR5 LAMTOR5-AS1
GH01H111990 1 ENCODE 35.1 +851.6 851595 2.3 HDGF PKNOX1 ZNF133 SIN3A GLI4 ZNF2 ZBTB7B YY1 GLIS2 ZNF207 ST7L ENSG00000243960 DDX20 CEPT1 KCND3-AS1 DRAM2 HIGD1AP12 MOV10 LINC01750 LOC105378910
GH01H110962 1.2 ENCODE 24.8 -176.0 -175960 3.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000258634 ENSG00000243960 DDX20 STRIP1 CEPT1 RBM15 ENSG00000273373 ENSG00000273010 LRIF1
GH01H111502 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +367.2 367241 8.1 HDGF PKNOX1 FOXA2 ARNT SIN3A ARID4B DMAP1 ZNF2 YY1 ZNF766 C1orf162 RAP1A DDX20 CEPT1 FAM212B ADORA3 DRAM2
- 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
ENSR00000011332 673 3001 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Locations for CEPT1 Gene

Genomic Locations for CEPT1 Gene
chr1:111,139,627-111,185,102
(GRCh38/hg38)
Size:
45,476 bases
Orientation:
Plus strand
chr1:111,682,249-111,727,724
(GRCh37/hg19)

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 Asn144
  • Modification sites at PhosphoSitePlus

Other Protein References for CEPT1 Gene

Domains & Families for CEPT1 Gene

Gene Families for CEPT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

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

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

Phenotypes From GWAS Catalog 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,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

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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.

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 166
Manganese Approved Nutra 35
Cytidine monophosphate Experimental Pharma 0
Citicoline Investigational Pharma 0
Magnesium Nutra 0

(11) 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
CMP-2-aminoethylphosphonate
CMP-N-trimethyl-2-aminoethylphosphonate
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
PE(P-16:0e/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
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:

Clone 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 CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for CEPT1 Gene

  • Bone marrow(4.2)
  • Pancreas(4.1)
  • Liver(2.7)
  • Nervous system(2.3)
  • Lung(2)
  • Spleen(2)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEPT1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEPT1 33 34
  • 94.47 (n)
mouse
(Mus musculus)
Mammalia Cept1 33 16 34
  • 93.83 (n)
rat
(Rattus norvegicus)
Mammalia Cept1 33
  • 93.43 (n)
dog
(Canis familiaris)
Mammalia CEPT1 33 34
  • 92.55 (n)
oppossum
(Monodelphis domestica)
Mammalia CEPT1 34
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEPT1 33 34
  • 84.29 (n)
lizard
(Anolis carolinensis)
Reptilia CEPT1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cept1 33
  • 76.36 (n)
Str.8915 33
African clawed frog
(Xenopus laevis)
Amphibia cept1-prov 33
zebrafish
(Danio rerio)
Actinopterygii cept1a 34
  • 74 (a)
OneToMany
cept1b 33 34
  • 70.69 (n)
Dr.669 33
fruit fly
(Drosophila melanogaster)
Insecta CG6016 35
  • 54 (a)
bbc 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y49A3A.1 35 33
  • 51.3 (n)
cept-1 34
  • 45 (a)
ManyToMany
cept-2 34
  • 42 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 34 36
  • 25 (a)
ManyToMany
EPT1 34
  • 22 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AAPT1 33
  • 45.04 (n)
rice
(Oryza sativa)
Liliopsida Os02g0119800 33
  • 45.73 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03223 33
  • 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
rs1000062678 -- 111,147,376(+) AGAAT(A/G)TGAGC intron-variant
rs1000086073 -- 111,168,735(+) TGCCC(A/G)CCTGG intron-variant
rs1000218858 -- 111,166,822(+) AGTTG(A/T)TTCTG intron-variant
rs1000283980 -- 111,153,211(+) ATGAG(G/T)AAGAA intron-variant
rs1000290777 -- 111,169,029(+) TACTT(A/G)TACCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1113155 CNV deletion 24896259
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

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 MM … McMaster CR (Lipids 2002) 2 3 4 22 60
  2. The major sites of cellular phospholipid synthesis and molecular determinants of Fatty Acid and lipid head group specificity. (PMID: 12221122) Henneberry AL … McMaster CR (Molecular biology of the cell 2002) 3 4 22 60
  3. Cloning and expression of a human choline/ethanolaminephosphotransferase: synthesis of phosphatidylcholine and phosphatidylethanolamine. (PMID: 10191259) Henneberry AL … McMaster CR (The Biochemical journal 1999) 2 3 4 60
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 45 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for CEPT1 Gene

Sources for CEPT1 Gene

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