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CEPT1 Gene

protein-coding   GIFtS: 62
GCID: GC01P111682

Choline/Ethanolamine Phosphotransferase 1

  Search for CEPT1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for CEPT1 gene to outside databases

Previous GC identifers: GC01P112099 GC01P110554 GC01P110784 GC01P110981 GC01P111394 GC01P109554


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for CEPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0 (See protein sequence)
Recommended Name: Choline/ethanolaminephosphotransferase 1  
Size: 416 amino acids; 46554 Da
Cofactor: Magnesium or manganese
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: 

  • Glycosylation2 at Asn144
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CEPT1 (Q9Y6K0) (see all 6)
     AHMTKSE  GGVGKNGST  AHWQTYVSG  DGKQARRTNS 


    See CEPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000349696   ENSP00000441980  
    Reactome Protein details: Q9Y6K0

    CEPT1 Human Recombinant Protein Products:

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    CEPT1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for CEPT1
    Cloud-Clone Corp. CLIAs for CEPT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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-diacyl-sn-glycerol = CMP + a phosphatidylethanolamine
    Catalytic activity: CDP-choline + 1,2-diacyl-sn-glycerol = 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:    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: Let us create your new Knockout/Knockin mouse model for CEPT1
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    miRNA
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    miRTarBase miRNAs that target CEPT1:
    hsa-mir-26a-5p (MIRT050143), hsa-mir-124-3p (MIRT023012), hsa-mir-183-5p (MIRT024992), hsa-mir-23b-3p (MIRT023468)

    Block miRNA regulation of human, mouse, rat CEPT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CEPT1 (see all 11):
    hsa-miR-3163 hsa-miR-526b hsa-miR-181a-2* hsa-miR-3133 hsa-miR-4282 hsa-miR-340 hsa-miR-1253 hsa-miR-337-3p
    SwitchGear 3'UTR luciferase reporter plasmidCEPT1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CEPT1 (NM_006090)
    Sino Biological Human cDNA Clone for CEPT1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CEPT1_HUMAN, Q9Y6K0: Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane; Multi-pass
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    plasma membrane3
    peroxisome2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    CEPT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CEPT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Synthesis of PC0.00
    Phospholipid metabolism0.64
    Synthesis of PE0.00
    Glycerophospholipid metabolism0.62
    choline biosynthesis III0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Acyl chain remodelling of PC
    Ether lipid metabolism0.48
    4phosphatidylethanolamine biosynthesis II
    phosphatidylethanolamine biosynthesis II
    5phosphatidylcholine biosynthesis I
    phosphatidylcholine biosynthesis I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for CEPT1
        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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEPT1
    Interactions:

        Search GeneGlobe Interaction Network for CEPT1

    Selected 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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CEPT1

    Selected 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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    hsa-miR-3163 hsa-miR-526b hsa-miR-181a-2* hsa-miR-3133 hsa-miR-4282 hsa-miR-340 hsa-miR-1253 hsa-miR-337-3p
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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 

    Selected AceView cDNA sequences (see all 149):

    BP352760 CF994854 AA707227 BM785925 BF085819 AL833102 AU279838 BX955824 
    AL699596 BC049196 BI761690 AL832104 NM_006090 CR612795 BM849733 CA454329 
    AA459010 BX479672 BP354871 BX346364 CB990833 BP344387 CR616896 BM454379 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CEPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAATAATG
    CEPT1 Expression
    About this image

    CEPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEPT1 Protein Expression

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEPT1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CEPT1 gene from Selected species (see all 19)    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_001006392.2  NP_001006392.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEPT16
    choline/ethanolamine phosphotransferase 1
    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.11 , 3 Y49A3A.11 46(a)3
    51.3(n)1
    47.17(a)1
      V(14351464-14353490)3
    1799351  NM_074157.51  NP_506558.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPT1(YNL130C)4 Cholinephosphotransferase, required for phosphatidylcholine more   --   14(380831-379558) 855593  NP_014269.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AAPT11 AAPT1 45.04(n)
    31.74(a)
      837917  NM_101226.4  NP_172813.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01198001 Os02g0119800 45.73(n)
    32.96(a)
      4328107  NM_001052239.1  NP_001045704.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CEPT1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CEPT1

    (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.)
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    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)
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    PubMed articles for CEPT1 gene, integrated from 10 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. (Lipids 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. (Biochem. J. 1999)
    3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 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. (Mol. Med. 2010)
    5. Cloning, genomic organization, and characterization of a human cholinephosphotransferase. (PubMed id 10893425)2, 7 Henneberry A.L.... McMaster C.R. (J. Biol. Chem. 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. (Mol. Biol. Cell 2002)
    7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10390 HGNC: 24289 AceView: CEPT1 Ensembl:ENSG00000134255 euGenes: HUgn10390
    ECgene: CEPT1 Kegg: 10390 H-InvDB: CEPT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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