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PCYT1B Gene

protein-coding   GIFtS: 64
GCID: GC0XM024576

Phosphate Cytidylyltransferase 1, Choline, Beta

(Previous names: phosphate cytidylyltransferase 1, choline, beta isoform)
  See PCYT1B-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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Aliases
Phosphate Cytidylyltransferase 1, Choline, Beta1 2     CT B2 3
CTP:Phosphocholine Cytidylyltransferase B2 3     EC 2.7.7.153 8
Phosphorylcholine Transferase B2 3     Phosphate Cytidylyltransferase 1, Choline, Beta Isoform1
CCT-beta2 3     CTB2
CCTB2 3     Choline-Phosphate Cytidylyltransferase B2
CCT B2 3     EC 2.7.78

External Ids:    HGNC: 87551   Entrez Gene: 94682   Ensembl: ENSG000001022307   OMIM: 6049265   UniProtKB: Q9Y5K33   

Export aliases for PCYT1B gene to outside databases

Previous GC identifers: GC0XM023407 GC0XM023238 GC0XM023778 GC0XM023941 GC0XM024339 GC0XM024486 GC0XM022318


(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 PCYT1B Gene:
The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of
phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Sep 2009)

GeneCards Summary for PCYT1B Gene:
PCYT1B (phosphate cytidylyltransferase 1, choline, beta) is a protein-coding gene. Diseases associated with PCYT1B include periventricular nodular heterotopia. GO annotations related to this gene include choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1A.

UniProtKB/Swiss-Prot: PCY1B_HUMAN, Q9Y5K3
Function: Controls phosphatidylcholine synthesis

Gene Wiki entry for PCYT1B Gene


(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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCYT1B gene promoter:
         Sox5   POU3F1   E47   SRY   S8   NF-AT2   Sox9   FOXO1a   NF-AT1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCYT1B promoter sequence
   Search Chromatin IP Primers for PCYT1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PCYT1B


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

Entrez Gene cytogenetic band: Xp22.11   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22

PCYT1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCYT1B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM024576:  view genomic region     (about GC identifiers)

Start:
24,576,204 bp from pter      End:
24,690,979 bp from pter
Size:
114,776 bases      Orientation:
minus 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: PCY1B_HUMAN, Q9Y5K3 (See protein sequence)
Recommended Name: Choline-phosphate cytidylyltransferase B  
Size: 369 amino acids; 41940 Da
Secondary accessions: A8IX00 B2RCX8 B4DK10 E9PD84 O60621 Q86XC9
Alternative splicing: 4 isoforms:  Q9Y5K3-1   Q9Y5K3-2   Q9Y5K3-3   Q9Y5K3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCYT1B: NX_Q9Y5K3

Explore proteomics data for PCYT1B at MOPED

Post-translational modifications: 

  • Extensively phosphorylated. The beta-1 isoform seems to be much less phosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCYT1B (Q9Y5K3) (see all 6)
     CRYVDEV  STSDIIT  VAHDDIPY  FKGFTVMNE 


    See PCYT1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001156736.1  NP_001156737.1  NP_004836.2  

    ENSEMBL proteins: 
     ENSP00000368440   ENSP00000349211   ENSP00000368439   ENSP00000436562  
    Reactome Protein details: Q9Y5K3

    PCYT1B Human Recombinant Protein Products:

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    Novus Biologicals PCYT1B Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PCYT1B 

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    Search eBioscience for ELISAs for PCYT1B 


    (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:
     IPR004821 Cyt_trans-like
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q9Y5K3

    ProtoNet protein and cluster: Q9Y5K3

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: PCY1B_HUMAN, Q9Y5K3
    Similarity: Belongs to the cytidylyltransferase family


    Find genes that share domains with PCYT1B           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: PCY1B_HUMAN, Q9Y5K3
    Function: Controls phosphatidylcholine synthesis
    Catalytic activity: CTP + phosphocholine = diphosphate + CDP-choline

         Enzyme Numbers (IUBMB): EC 2.7.7.151 2 EC 2.7.72

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004105choline-phosphate cytidylyltransferase activity IEA--
         
    Find genes that share ontologies with PCYT1B           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pcyt1b):
     endocrine/exocrine gland  homeostasis/metabolism  reproductive system  tumorigenesis 

    Find genes that share phenotypes with PCYT1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pcyt1btm1Mkar for PCYT1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCYT1B
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCYT1B

    miRNA
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    miRTarBase miRNAs that target PCYT1B:
    hsa-let-7b-5p (MIRT032240)

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    Selected qRT-PCR Assays for microRNAs that regulate PCYT1B (see all 96):
    hsa-miR-582-3p hsa-miR-188-5p hsa-miR-106a hsa-miR-3142 hsa-miR-93 hsa-miR-298 hsa-miR-642b hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidPCYT1B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PCYT1B

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCYT1B


    (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
    PCY1B_HUMAN, Q9Y5K3: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9593753
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with PCYT1B           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 PCYT1B 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
    3phosphatidylcholine biosynthesis I
    phosphatidylcholine biosynthesis I


    Find genes that share SuperPaths with PCYT1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PCYT1B
        choline biosynthesis III
    phosphatidylcholine biosynthesis I

    1 Reactome Pathway for PCYT1B
        Synthesis of PC


    2 Kegg Pathways  (Kegg details for PCYT1B):
        Glycerophospholipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PCY1B_HUMAN, Q9Y5K3
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step
    1/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCYT1B
    Interactions:

        Search GeneGlobe Interaction Network for PCYT1B

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

    Selected Interacting proteins for PCYT1B (Q9Y5K33 ENSP000003684394) via UniProtKB, MINT, STRING, and/or I2D (see all 77)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=3 STRING: ENSP00000355645
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    ACTA2P627363, ENSP000002247844I2D: score=3 STRING: ENSP00000224784
    CHKAENSP000002656894STRING: ENSP00000265689
    CHKBENSP000003844004STRING: ENSP00000384400
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway TAS9593753
    GO:0007283spermatogenesis IEA--

    Find genes that share ontologies with PCYT1B           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 PCYT1B (PCY1B)

    Selected HMDB Compounds for PCYT1B (see all 1081)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    CiticolineAudes (see all 43)987-78-0--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----
    PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
    PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
    PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----

    1 DrugBank Compound for PCYT1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7targetproduct of17139284 17016423 15798219



    (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 PCYT1B gene (3 alternative transcripts): 
    NM_001163264.1  NM_001163265.1  NM_004845.4  

    Unigene Cluster for PCYT1B:

    Phosphate cytidylyltransferase 1, choline, beta
    Hs.660708  [show with all ESTs]
    Unigene Representative Sequence: NM_004845
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379145(uc004dbk.4 uc004dbi.3 uc004dbj.3) ENST00000356768
    ENST00000379144 ENST00000496020
    miRNA
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    Block miRNA regulation of human, mouse, rat PCYT1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PCYT1B (see all 96):
    hsa-miR-582-3p hsa-miR-188-5p hsa-miR-106a hsa-miR-3142 hsa-miR-93 hsa-miR-298 hsa-miR-642b hsa-miR-92b
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      QuantiFast Probe-based Assays in human, mouse, rat PCYT1B

    Additional mRNA sequence: 

    AF052510.1 AF148464.1 AK022741.1 AK226121.1 AK296333.1 AK315323.1 BC045634.1 

    5 DOTS entries:

    DT.92017247  DT.95201354  DT.407044  DT.95265860  DT.121323548 

    Selected AceView cDNA sequences (see all 40):

    BM681635 BM701586 CR618952 CA313657 BM727166 BX111682 BI597075 BM674585 
    BX490964 AL521633 BU844877 BC045634 AF148464 AI857508 NM_004845 AA683266 
    AL521632 BX471364 AF052510 AI124530 BI669394 CD656880 AA382871 BX118987 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PCYT1B    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                            
    SP2:                                                            


    ECgene alternative splicing isoforms for PCYT1B

    (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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    PCYT1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCATTTGC
    PCYT1B Expression
    About this image


    PCYT1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    PCYT1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCYT1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660708

    UniProtKB/Swiss-Prot: PCY1B_HUMAN, Q9Y5K3
    Tissue specificity: Highly expressed in testis, placenta, brain, ovary and fetus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCYT1B

    (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 PCYT1B gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcyt1b1 , 5 phosphate cytidylyltransferase 1, choline, beta isoform1, 5 91.24(n)1
    98.1(a)1
      X (41.28 cM)5
    2368991  NM_211138.11  NP_997593.11 
     936548635 
    chicken
    (Gallus gallus)
    Aves PCYT1B1 phosphate cytidylyltransferase 1, choline, beta 81.76(n)
    93.92(a)
      418594  XM_416793.4  XP_416793.4 
    lizard
    (Anolis carolinensis)
    Reptilia PCYT1B6
    phosphate cytidylyltransferase 1, choline, beta
    90(a)
    1 ↔ 1
    3(126013204-126057512)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcyt1b1 phosphate cytidylyltransferase 1, choline, beta 78.14(n)
    86.61(a)
      100488883  XM_004911757.1  XP_004911814.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcyt1ba1 phosphate cytidylyltransferase 1, choline, beta a 74.15(n)
    83.67(a)
      100001552  NM_001082946.1  NP_001076415.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cct23 choline-phosphate cytidylyltransferase 55(a)
    (best of 2)
      62A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea F08C6.23 cholinephosphate cytidylyltransferase 50(a)
    (best of 2)
      X(7613709-7615215)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PCT1(YGR202C)4 Cholinephosphate cytidylyltransferase, also known as more   --   7(904748-903474) 853116  NP_011718.1 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.28982 Vitis vinifera transcribed sequence with moderate similarity more 71.94(n)    CF518066.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01618001 Os08g0161800 57.73(n)
    55.91(a)
      4344725  NM_001067587.1  NP_001061052.1 


    ENSEMBL Gene Tree for PCYT1B (if available)
    TreeFam Gene Tree for PCYT1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCYT1B gene
    PCYT1A2  
    1 SIMAP similar gene for PCYT1B using alignment to 2 protein entries:     PCY1B_HUMAN (see all proteins):
    PCYT1A

    Find genes that share paralogs with PCYT1B           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 PCYT1B (see all 1641)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1438413721,2
    --24490569(+) TCTCCC/TGTGAG 3 -- ds50010--------
    rs59439141,2
    C,F,H--24490642(+) TGCAGG/CCTGCC 3 -- ds500114Minor allele frequency- C:0.04EA NS WA NA CSA 395
    rs1819435701,2
    --24490893(+) CAGTCA/TCATCC 3 -- ds50010--------
    rs413114891,2
    C,F--24490937(+) CAGCCG/AGTGGG 3 -- ds50014Minor allele frequency- A:0.05NA NS 92
    rs1846130011,2
    --24490990(+) TAGTTA/CATAAA 3 -- ds50010--------
    rs617561681,2
    C--24491033(-) GTGTCA/GTTGTC 3 -- ds50012Minor allele frequency- G:0.01NS 88
    rs1882786191,2
    --24491050(+) GTGCAA/GTTCTG 3 -- ut310--------
    rs1808017771,2
    --24491074(+) ATAAAC/TGAGTT 3 -- ut310--------
    rs1867442431,2
    --24491139(+) GGGCGC/TGCAGA 3 -- ut310--------
    rs126893161,2
    C,F,H--24491166(+) TCCAGT/CAGTTC 3 -- ut31 ese39Minor allele frequency- C:0.02NS EA NA 754

    HapMap Linkage Disequilibrium report for PCYT1B (24576204 - 24690979 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PCYT1B: --
    Locus Specific Mutation Databases (LSDB): PCYT1B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PCYT1B
    DNA2.0 Custom Variant and Variant Library Synthesis for PCYT1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604926    OMIM disorders: --

    1 disease for PCYT1B:    
    About MalaCards
    periventricular nodular heterotopia

    1 disease from the University of Copenhagen DISEASES database for PCYT1B:
    Periventricular nodular heterotopia

    Find genes that share disorders with PCYT1B           About GenesLikeMe

    Genetic Association Database (GAD): PCYT1B
    Human Genome Epidemiology (HuGE) Navigator: PCYT1B (3 documents)

    Export disorders for PCYT1B 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 PCYT1B gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with PCYT1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a second human CTP:phosphocholine cytidylyltransferase. (PubMed id 9593753)1, 2, 3, 9 Lykidis A.... Jackowski S. (J. Biol. Chem. 1998)
    2. Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. (PubMed id 10480912)1, 2, 9 Lykidis A.... Jackowski S. (J. Biol. Chem. 1999)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. (PubMed id 21163940)1 Soler-LA^pez M....Aloy P. (Genome Res. 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)1 Gorbea C.... Rechsteiner M. (J. Biol. Chem. 2010)

    (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: 9468 HGNC: 8755 AceView: PCYT1B Ensembl:ENSG00000102230 euGenes: HUgn9468
    ECgene: PCYT1B Kegg: 9468 H-InvDB: PCYT1B

    (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)
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    NameDescription
    PharmGKB entry for PCYT1B Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/pcyt1b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PCYT1B gene:
    Search GeneIP for patents involving PCYT1B

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



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