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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CEPT1 Gene

protein-coding   GIFtS: 60
GCID: GC01P111682

Choline/Ethanolamine Phosphotransferase 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Choline/Ethanolamine Phosphotransferase 11 2     Choline/Ethanolaminephosphotransferase 12
hCEPT12 3     EC 2.7.8.13
EC 2.7.8.23 8     EC 2.7.88
choline/ethanolaminephosphotransferase2     

External Ids:    HGNC: 242891   Entrez Gene: 103902   Ensembl: ENSG000001342557   UniProtKB: Q9Y6K03   

Export aliases for CEPT1 gene to outside databases

Previous GC identifers: GC01P112099 GC01P110554 GC01P110784 GC01P110981 GC01P111394 GC01P109554


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with CEPT1 include alcoholism, and among its related super-pathways are Glycerophospholipid biosynthesis and Metabolic pathways. GO annotations related to this gene include ethanolaminephosphotransferase activity and diacylglycerol cholinephosphotransferase activity. An important paralog of this gene is CHPT1.

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEPT1 gene promoter:
         E2F-3a   E2F-5   E2F-1   E2F   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CEPT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEPT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEPT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

CEPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEPT1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P111682:  view genomic region     (about GC identifiers)

Start:
111,682,249 bp from pter      End:
111,727,724 bp from pter
Size:
45,476 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0 (See protein sequence)
Recommended Name: Choline/ethanolaminephosphotransferase 1  
Size: 416 amino acids; 46554 Da
Cofactor: Magnesium or manganese
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass
membrane protein
Sequence caution: Sequence=AAF61194.1; Type=Frameshift; Positions=276;
Secondary accessions: Q69YJ9 Q9P0Y8

Explore the universe of human proteins at neXtProt for CEPT1: NX_Q9Y6K0

Explore proteomics data for CEPT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6K0

  • 4/6 DME Specific Peptides for CEPT1 (Q9Y6K0) (see all 6)
     AHMTKSE  GGVGKNGST  AHWQTYVSG  DGKQARRTNS 

    CEPT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CEPT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001007795.1  NP_006081.1  

    ENSEMBL proteins: 
     ENSP00000349696   ENSP00000441980  
    Reactome Protein details: Q9Y6K0
    Human Recombinant Protein Products for CEPT1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CEPT1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0031965nuclear membrane IEA--

    CEPT1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CEPT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR014472 CHOPT
     IPR000462 CDP-OH_P_trans

    Graphical View of Domain Structure for InterPro Entry Q9Y6K0

    ProtoNet protein and cluster: Q9Y6K0

    1 Blocks protein domain: IPB000462 CDP-alcohol phosphatidyltransferase

    UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
    Similarity: Belongs to the CDP-alcohol phosphatidyltransferase class-I family


    CEPT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEPT1_HUMAN, Q9Y6K0
    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
    Catalytic activity: CDP-ethanolamine + 1,2-diacylglycerol = CMP + a phosphatidylethanolamine
    Catalytic activity: CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine
    Biophysicochemical properties: Kinetic parameters: KM=37 uM for CDP-choline; KM=101 uM for CDP-ethanolamine;
    Vmax=10.5 nmol/min/mg enzyme with CDP-choline as substrate; Vmax=4.35 nmol/min/mg enzyme with CDP-ethanolamine as
    substrate;

         Enzyme Numbers (IUBMB): EC 2.7.8.21 2 EC 2.7.8.11 EC 2.7.82

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004142diacylglycerol cholinephosphotransferase activity TAS--
    GO:0004307ethanolaminephosphotransferase activity IEA--
    GO:0016780phosphotransferase activity, for other substituted phosphate groups ----
    GO:0046872metal ion binding IEA--
         
    CEPT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CEPT1:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CEPT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CEPT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEPT1 
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    SwitchGear 3'UTR luciferase reporter plasmidCEPT1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CEPT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Synthesis of PE
    Synthesis of PE0.38
    Synthesis of PC0.30
    phosphatidylethanolamine biosynthesis II0.38
    4choline biosynthesis III
    choline biosynthesis III0.42
    phosphatidylcholine biosynthesis I0.36
    5Acyl chain remodelling of PE
    Ether lipid metabolism0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CEPT1
        choline biosynthesis III
    phosphatidylcholine biosynthesis I
    phosphatidylethanolamine biosynthesis II


    5/6        Reactome Pathways for CEPT1 (see all 6)
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Synthesis of PE
    Synthesis of PC


    3         Kegg Pathways  (Kegg details for CEPT1):
        Glycerophospholipid metabolism
    Ether lipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
    Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from
    ethanolamine: step 3/3
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step
    2/2


    CEPT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEPT1

    5/27 Interacting proteins for CEPT1 (Q9Y6K03) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP51A1Q168503I2D: score=4 
    EPT1Q9C0D93I2D: score=4 
    TMED10P497553I2D: score=4 
    MYCP011063I2D: score=3 
    ALG8Q9BVK23I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS10191259
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway TAS--

    CEPT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEPT1

    10/2214 HMDB Compounds for CEPT1 (see all 2214)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    CDP-EthanolamineCDP-ethanolamine (see all 4)3036-18-8--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----

    1 DrugBank Compound for CEPT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7enzymesubstrate12216837 10191259 10893425

    Search CenterWatch for drugs/clinical trials and news about CEPT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CEPT1 gene (2 alternative transcripts): 
    NM_001007794.1  NM_006090.3  

    Unigene Cluster for CEPT1:

    Choline/ethanolamine phosphotransferase 1
    Hs.363572  [show with all ESTs]
    Unigene Representative Sequence: AL832104
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498239 ENST00000480324(uc001eag.3) ENST00000476865 ENST00000357172(uc001eai.1 uc001eaj.1)
    ENST00000460443 ENST00000478042 ENST00000473474 ENST00000467362 ENST00000483427
    ENST00000545121(uc001eah.1)
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    Additional mRNA sequence: 

    AF068302.1 AF138862.1 AK023381.1 AK095229.1 AL832104.1 AL833102.1 BC032610.2 BC049196.1 

    16 DOTS entries:

    DT.97845084  DT.100883777  DT.92447464  DT.92447452  DT.95155123  DT.100883776  DT.409117  DT.99993833 
    DT.100883787  DT.303074  DT.100645212  DT.121409329  DT.121409405  DT.100691333  DT.121409374  DT.95253585 

    24/149 AceView cDNA sequences (see all 149):

    CB990833 BC032610 AU279838 BF085819 BP352760 CF994854 AW615294 BX955824 
    BP344387 BX506847 BX346364 BX500994 AL699596 CA454329 AI114518 AA459010 
    BX479672 BP354871 BM849733 BC049196 BM454379 AL832104 AL833102 NM_006090 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CEPT1    About this scheme

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


    ECgene alternative splicing isoforms for CEPT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CEPT1 expression in normal human tissues (normalized intensities)      CEPT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAATAATG
    CEPT1 Expression
    About this image


    CEPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             cd14+ cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             fetal cartilage   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See CEPT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEPT1

    SOURCE GeneReport for Unigene cluster: Hs.363572

    UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CEPT1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cept11 , 5 choline/ethanolaminephosphotransferase 11, 5 93.83(n)1
    98.56(a)1
      3 (46.49 cM)5
    997121  NM_133869.31  NP_598630.21 
     1065022605 
    chicken
    (Gallus gallus)
    Aves CEPT11 choline/ethanolamine phosphotransferase 1 84.29(n)
    90.38(a)
      421152  NM_001006392.1  NP_001006392.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEPT16
    Uncharacterized protein
    90(a)
    1 ↔ 1
    4(133024296-133056077)
    African clawed frog
    (Xenopus laevis)
    Amphibia cept1-prov2 choline/ethanolaminephosphotransferase 78.58(n)    BC042267.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.6692 Danio rerio mRNA similar to choline phosphotransferase more 71.81(n)    BC045345.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60163 ethanolaminephosphotransferase 54(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y49A3A.13   -- 46(a)   V(14351464-14353490)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPT1(YNL130C)4 Cholinephosphotransferase, required for phosphatidylcholine more   --   14(380831-379558) 855593  NP_014269.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEPT1 gene
    CHPT12  EPT12  
    1 SIMAP similar gene for CEPT1 using alignment to 1 protein entry:     CEPT1_HUMAN:
    CHPT1

    CEPT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/808 SNPs in CEPT1 are shown (see all 808)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1877295111,2
    --111684909(+) CCGTAC/TGTGTT 2 -- int10--------
    rs1914664801,2
    --111684918(+) TTTTCC/GTAGTT 2 -- int10--------
    rs1471058041,2
    --111684983(+) TGAGAC/TCCCAC 2 -- int10--------
    rs1835498681,2
    --111684990(+) CCACCC/TTCCCC 2 -- int10--------
    rs1477505731,2
    --111685044(+) TCTGTC/TTCATC 2 -- int10--------
    rs1426571681,2
    --111685055(+) AGAGTC/TTGGAA 2 -- int10--------
    rs1897283641,2
    C--111685154(+) ATGCTC/GGTAAT 2 -- int10--------
    rs576122681,2
    C,F--111685203(+) ACCCAG/AGAGGA 2 -- int12Minor allele frequency- A:0.10NA EA 240
    rs1811435231,2
    --111685300(+) AATAAG/TTATTG 2 -- int10--------
    rs1852523711,2
    --111685306(+) TATTGA/GTTATC 2 -- int10--------

    HapMap Linkage Disequilibrium report for CEPT1 (111682249 - 111727724 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CEPT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2455976CNV Deletion19546169
    nsv10639CNV Gain18304495

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for CEPT1:    About MalaCards
    alcoholism    


    CEPT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CEPT1
    Human Genome Epidemiology (HuGE) Navigator: CEPT1 (1 document)

    Export disorders for CEPT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEPT1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with CEPT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PC and PE synthesis: mixed micellar analysis of the cholinephosphotransferase and ethanolaminephosphotransferase activities of human choline/ethanolamine phosphotransferase 1 (CEPT1). (PubMed id 12216837)1, 2, 3, 7, 9 Wright M.M. and McMaster C.R. (2002)
    2. Cloning and expression of a human choline/ethanolaminephosphotransferase: synthesis of phosphatidylcholine and phosphatidylethanolamine. (PubMed id 10191259)1, 2, 3, 7 Henneberry A.L. and McMaster C.R. (1999)
    3. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Cloning, genomic organization, and characterization of a human cholinephosphotransferase. (PubMed id 10893425)2, 7 Henneberry A.L.... McMaster C.R. (2000)
    6. The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity. (PubMed id 12221122)2, 9 Henneberry A.L.... McMaster C.R. (2002)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10390 HGNC: 24289 AceView: CEPT1 Ensembl:ENSG00000134255 euGenes: HUgn10390
    ECgene: CEPT1 Kegg: 10390 H-InvDB: CEPT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CEPT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEPT1 gene:
    Search GeneIP for patents involving CEPT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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