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CHPT1 Gene

protein-coding   GIFtS: 62
GCID: GC12P102090

Choline Phosphotransferase 1

  See CHPT1-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Choline Phosphotransferase 11 2     EC 2.7.8.23 8
Phosphatidylcholine Synthesizing Enzyme1 2     CPT2
Diacylglycerol Cholinephosphotransferase 12 3     Cholinephosphotransferase 12
CPT12 3     Cholinephosphotransferase 1 Alpha2
AAPT1-Like Protein2 3     EC 2.7.88
hCPT12 3     

External Ids:    HGNC: 178521   Entrez Gene: 569942   Ensembl: ENSG000001116667   UniProtKB: Q8WUD63   
ORGUL members:         

Export aliases for CHPT1 gene to outside databases

Previous GC identifers: GC12P101225 GC12P102074 GC12P100593 GC12P099151


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CHPT1 Gene:
CHPT1 (choline phosphotransferase 1) is a protein-coding gene. Diseases associated with CHPT1 include newborn respiratory distress syndrome. GO annotations related to this gene include diacylglycerol binding and diacylglycerol cholinephosphotransferase activity. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot: CHPT1_HUMAN, Q8WUD6
Function: Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the
formation and maintenance of vesicular membranes




(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHPT1 gene promoter:
         AML1a   SREBP-1c   Cdc5   SREBP-1b   MEF-2A   S8   SREBP-1a   ARP-1   Msx-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHPT1 promoter sequence
   Search Chromatin IP Primers for CHPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHPT1


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

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q

CHPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHPT1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P102090:  view genomic region     (about GC identifiers)

Start:
102,090,725 bp from pter      End:
102,137,918 bp from pter
Size:
47,194 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHPT1_HUMAN, Q8WUD6 (See protein sequence)
Recommended Name: Cholinephosphotransferase 1  
Size: 406 amino acids; 45097 Da
Cofactor: Magnesium or manganese
Sequence caution: Sequence=AAD44019.1; Type=Frameshift; Positions=310; Sequence=AAL39005.1; Type=Erroneous
initiation;
Secondary accessions: B3KQM2 Q7Z7H0 Q7Z7H1 Q7Z7H2 Q8IWQ4 Q8IWQ5 Q8WYI4 Q9NRQ6 Q9NRQ7 Q9Y6M6
Alternative splicing: 2 isoforms:  Q8WUD6-1   Q8WUD6-2   

Explore the universe of human proteins at neXtProt for CHPT1: NX_Q8WUD6

Explore proteomics data for CHPT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHPT1 (Q8WUD6) (see all 9)
     AHMTKSE  PLWMAPN  WTYLLCA  GGVGKNGST 


    See CHPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064629.2  
    ENSEMBL proteins: 
     ENSP00000229266   ENSP00000448766   ENSP00000446994   ENSP00000447887   ENSP00000448831  
     ENSP00000447920   ENSP00000448369  
    Reactome Protein details: Q8WUD6

    CHPT1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CHPT1

     
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    Search eBioscience for ELISAs for CHPT1 


    (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 Q8WUD6

    ProtoNet protein and cluster: Q8WUD6

    2 Blocks protein domains:
    IPB000462 CDP-alcohol phosphatidyltransferase
    IPB003016 2-oxo acid dehydrogenase


    UniProtKB/Swiss-Prot: CHPT1_HUMAN, Q8WUD6
    Similarity: Belongs to the CDP-alcohol phosphatidyltransferase class-I family


    Find genes that share domains with CHPT1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHPT1_HUMAN, Q8WUD6
    Function: Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the
    formation and maintenance of vesicular membranes
    Catalytic activity: CDP-choline + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylcholine

         Enzyme Numbers (IUBMB): EC 2.7.8.21 2 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:0016780phosphotransferase activity, for other substituted phosphate groups ----
    GO:0019992diacylglycerol binding NAS10893425
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CHPT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHPT1:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHPT1
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    miRNA
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    miRTarBase miRNAs that target CHPT1:
    hsa-mir-16-5p (MIRT031836), hsa-mir-192-5p (MIRT026717), hsa-mir-375 (MIRT019907), hsa-mir-215-5p (MIRT024793)

    Block miRNA regulation of human, mouse, rat CHPT1 using miScript Target Protectors
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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
    CHPT1_HUMAN, Q8WUD6: Golgi apparatus membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    endoplasmic reticulum2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016020membrane NAS10893425
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle NAS10893425

    Find genes that share ontologies with CHPT1           About GenesLikeMe


    (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 CHPT1 About    
    See pathways by source

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


    Find genes that share SuperPaths with CHPT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for CHPT1
        choline biosynthesis III
    phosphatidylcholine biosynthesis I


    1 Reactome Pathway for CHPT1
        Synthesis of PC

    1 PharmGKB Pathway for CHPT1
        Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    3 Kegg Pathways  (Kegg details for CHPT1):
        Glycerophospholipid metabolism
    Ether lipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CHPT1_HUMAN, Q8WUD6
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step
    2/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHPT1
    Interactions:

        Search GeneGlobe Interaction Network for CHPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHPT1 (Q8WUD63 ENSP000002292664) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    REC8O950723I2D: score=1 
    SMC1BQ8NDV33I2D: score=1 
    SMC3Q9UQE73I2D: score=1 
    DGKDENSP000002640574STRING: ENSP00000264057
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS10893425
    GO:0006629lipid metabolic process TAS10893425
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway NAS10893425

    Find genes that share ontologies with CHPT1           About GenesLikeMe



    (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 CHPT1

    Selected HMDB Compounds for CHPT1 (see all 1983)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Argininosuccinic acidArgininosuccinate (see all 27)2387-71-58382048
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    CiticolineAudes (see all 43)987-78-0--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----

    Selected Novoseek inferred chemical compound relationships for CHPT1 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdp choline 91.3 9 12221122 (2), 10191259 (1), 17213183 (1), 1333282 (1) (see all 8)
    cdp ethanolamine 91.1 3 1333282 (2), 12221122 (1)
    diradylglycerol 85.8 1 12216837 (1)
    phosphatidylcholine 81.3 39 8240288 (2), 8037660 (2), 12221122 (2), 15936720 (2) (see all 17)
    plasmenylcholine 80.6 6 8037660 (2), 8382961 (2)
    phosphorylcholine 75.2 4 10191259 (1), 17920136 (1), 1951666 (1), 10893425 (1)
    choline 69.2 8 12216837 (1), 2171666 (1), 10191259 (1), 8044894 (1) (see all 6)
    phosphatidylethanolamine 62.7 3 12221122 (2), 1333282 (1)
    1,2-diacylglycerol 61.9 1 10907782 (1)
    ethanolamine 57.3 3 12216837 (1), 10191259 (1)



    Find genes that share compounds with CHPT1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHPT1 gene: 
    NM_020244.2  

    Unigene Cluster for CHPT1:

    Choline phosphotransferase 1
    Hs.293077  [show with all ESTs]
    Unigene Representative Sequence: AK226127
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550385 ENST00000229266(uc001tin.3 uc001tio.3) ENST00000549872
    ENST00000549128 ENST00000552351 ENST00000546490 ENST00000552215(uc001tip.1)
    ENST00000552329 ENST00000546873 ENST00000552213
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    Additional mRNA sequence: 

    AF047431.1 AF111803.1 AF195623.1 AK025141.1 AK075211.1 AK093067.1 AK226127.1 AY166717.1 
    AY166718.1 AY280609.1 AY280610.1 AY294627.1 BC020819.1 BC050429.1 

    15 DOTS entries:

    DT.440957  DT.100818423  DT.456021  DT.100818421  DT.427414  DT.121178791  DT.40250754  DT.100818425 
    DT.121178820  DT.121178844  DT.40205143  DT.40212542  DT.95184125  DT.95184095  DT.95258155 

    Selected AceView cDNA sequences (see all 220):

    AI423579 BG777509 CR590259 CD244109 BF223084 BC020819 AY280609 AI493671 
    BQ010936 CR591873 CK430226 AI049761 CR624037 BM976809 BE326894 BF724709 
    AI953565 AI863600 CD722499 BF724252 AW043978 CR603077 AI478541 CD244130 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHPT1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
    SP1:                                      -           -                                   -         
    SP2:                                      -           -                                             
    SP3:                                      -                                                         
    SP4:        -     -                                                                                 


    ECgene alternative splicing isoforms for CHPT1

    (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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    CHPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGGAGATA
    CHPT1 Expression
    About this image


    CHPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Visceral White Adipose
             HyStem+BMP4-induced 7SMOO32 cells
    CHPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHPT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.293077

    UniProtKB/Swiss-Prot: CHPT1_HUMAN, Q8WUD6
    Tissue specificity: Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected
    in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and
    lung. Overexpressed in cancerous breast epithelial cell lines

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

    Orthologs for CHPT1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chpt11 , 5 choline phosphotransferase 11, 5 89.39(n)1
    89.65(a)1
      10 (43.93 cM)5
    2128621  NM_001146690.11  NP_001140162.11 
     884527455 
    chicken
    (Gallus gallus)
    Aves CHPT16
    Gallus gallus choline phosphotransferase 1 (CHPT1)...
    66(a)
    1 ↔ 1
    1(55723742-55742422)
    lizard
    (Anolis carolinensis)
    Reptilia CHPT16
    choline phosphotransferase 1
    69(a)
    1 ↔ 1
    5(17345868-17372041)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chpt11 choline phosphotransferase 1 66.58(n)
    64.55(a)
      100216268  NM_001142222.1  NP_001135694.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chpt11 choline phosphotransferase 1 66.21(n)
    65.12(a)
      322605  NM_212624.1  NP_997789.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60163 ethanolaminephosphotransferase 53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y49A3A.13   -- 43(a)   V(14351464-14353490)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CPT16
    EPT16
    Cholinephosphotransferase, required for phosphatid...
    sn-1,2-diacylglycerol ethanolamine- and cholinepho...
    23(a)
    21(a)
    many ↔ many
    many ↔ many
    XIV(379558-380831) YNL130C
    VIII(354815-356081) YHR123W


    ENSEMBL Gene Tree for CHPT1 (if available)
    TreeFam Gene Tree for CHPT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHPT1 gene
    CEPT12  EPT12  
    3 SIMAP similar genes for CHPT1 using alignment to 5 protein entries:     CHPT1_HUMAN (see all proteins):
    CEPT1    EPT1    SELI

    Find genes that share paralogs with CHPT1           About GenesLikeMe



    (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 CHPT1 (see all 658)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs26952821,2
    C,F,A,H--102089502(-) ctctgC/Ttccaa 1 -- us2k127Minor allele frequency- T:0.43NS EA NA WA CSA 2776
    rs25598561,2
    C,F,A,H--102089561(-) ggcacT/Cccaag 1 -- us2k110Minor allele frequency- C:0.43NA WA CSA EA 378
    rs769938931,2
    C,F--102089631(+) CTGTGG/CTATTT 1 -- us2k11Minor allele frequency- C:0.05EA 120
    rs1807342171,2
    --102089658(+) GCTGAC/GTAATA 1 -- us2k10--------
    rs2016590171,2
    C--102089674(+) GCTTC-/TTTTTT 1 -- us2k10--------
    rs1860778461,2
    --102089882(+) GTTTAC/TGGCTT 1 -- us2k10--------
    rs1998143891,2
    C--102089888(+) GGCTTG/TTNNNN 1 -- us2k10--------
    rs769544871,2
    C,F--102089910(+) ATGACG/ATCTTT 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs26952811,2
    C,F,O,A,H--102089999(-) TTTACC/TGATGC 1 -- us2k1101Minor allele frequency- N:0.00NS EA NA PA EU CA WA CSA 5334
    rs1913261291,2
    --102090045(+) AACCAA/GCATTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHPT1 (102090725 - 102137918 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHPT1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435634CNV Deletion17901297
    esv2566252CNV Deletion19546169
    esv2664879CNV Deletion23128226
    esv2746280CNV Deletion23290073
    nsv859CNV Loss18451855
    dgv308n67CNV Loss20364138
    nsv498804CNV Loss21111241
    esv21962CNV Loss19812545
    nsv826502CNV Loss20364138
    esv9053CNV Loss19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHPT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for CHPT1:    
    About MalaCards
    newborn respiratory distress syndrome

    1 disease from the University of Copenhagen DISEASES database for CHPT1:
    Newborn respiratory distress syndrome

    Find genes that share disorders with CHPT1           About GenesLikeMe

    2 Novoseek inferred disease relationships for CHPT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 5.63 1 12359261 (1)
    cancer 0 2 14651986 (1)

    Genetic Association Database (GAD): CHPT1

    Export disorders for CHPT1 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 CHPT1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with CHPT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, genomic organization, and characterization of a human cholinephosphotransferase. (PubMed id 10893425)1, 2, 3, 9 Henneberry A.L.... McMaster C.R. (J. Biol. Chem. 2000)
    2. Differential expression of cholinephosphotransferase in normal and cancerous human mammary epithelial cells. (PubMed id 12359261)1, 2, 9 Ghosh A.... Das S.K. (Biochem. Biophys. Res. Commun. 2002)
    3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    4. Modulation of cholinephosphotransferase activity in breast cancer cell lines by Ro5-4864, a peripheral benzodiazepine receptor agonist. (PubMed id 15936720)1, 9 Akech J....Das S.K. (Biochem. Biophys. Res. Commun. 2005)
    5. 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)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    10. Inhibition of cholinephosphotransferase activity in lung injury induced by 2-chloroethyl ethyl sulfide, a mustard analog. (PubMed id 16292752)2 Sinha Roy S....Das S.K. (J. Biochem. Mol. Toxicol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 56994 HGNC: 17852 AceView: CHPT1 Ensembl:ENSG00000111666 euGenes: HUgn56994
    ECgene: CHPT1 Kegg: 56994 H-InvDB: CHPT1

    (According to HUGE)
    About This Section

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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 CHPT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CHPT1 gene:
    Search GeneIP for patents involving CHPT1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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