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PCYT1A Gene

protein-coding   GIFtS: 63
GCID: GC03M195941

Phosphate Cytidylyltransferase 1, Choline, Alpha

(Previous names: phosphate cytidylyltransferase 1, choline, alpha isoform)
(Previous symbol: PCYT1)
  See PCYT1A-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, Alpha1 2     Alpha Isoform1
PCYT11 2 3 5     choline1
CTPCT2 3 5     Phosphate Cytidylyltransferase 11
Phosphorylcholine Transferase A2 3     Phosphate Cytidylyltransferase 1, Choline, Alpha Isoform1
CCT-alpha2 3     CCTA2
CCT A2 3     CT2
CT A2 3     CTA2
CTP:Phosphocholine Cytidylyltransferase A2 3     Choline-Phosphate Cytidylyltransferase A2
EC 2.7.7.153 8     EC 2.7.78
SMDCRD2 5     

External Ids:    HGNC: 87541   Entrez Gene: 51302   Ensembl: ENSG000001612177   OMIM: 1236955   UniProtKB: P495853   

Export aliases for PCYT1A gene to outside databases

Previous GC identifers: GC03M191886 GC03M196194 GC03M197368 GC03M197291 GC03M197453 GC03M193264


(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 PCYT1A Gene:
PCYT1A (phosphate cytidylyltransferase 1, choline, alpha) is a protein-coding gene. Diseases associated with PCYT1A include spondylometaphyseal dysplasia with cone-rod dystrophy. GO annotations related to this gene include protein homodimerization activity and choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1B.

UniProtKB/Swiss-Prot: PCY1A_HUMAN, P49585
Function: Controls phosphatidylcholine synthesis

Gene Wiki entry for PCYT1A 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_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCYT1A gene promoter:
         AML1a   HTF   Pax-2   Pax-2a   Meis-1b   RORalpha2   c-Rel   Meis-1a   Hlf   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PCYT1A promoter sequence
   Search Chromatin IP Primers for PCYT1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PCYT1A


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

PCYT1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCYT1A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M195941:  view genomic region     (about GC identifiers)

Start:
195,941,093 bp from pter      End:
196,014,828 bp from pter
Size:
73,736 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: PCY1A_HUMAN, P49585 (See protein sequence)
Recommended Name: Choline-phosphate cytidylyltransferase A  
Size: 367 amino acids; 41731 Da
Subunit: Homodimer
Secondary accessions: A9LYK9 D3DXB1 Q86Y88

Explore the universe of human proteins at neXtProt for PCYT1A: NX_P49585

Explore proteomics data for PCYT1A at MOPED

Post-translational modifications: 

  • The serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by
    phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is
    stabilized by dephosphorylation (By similarity)1
  • Monoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCYT1A (P49585) (see all 8)
     CRYVDEV  STSDIIT  VAHDDIPY  FKGFTVMNE 


    See PCYT1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005008.2  
    ENSEMBL proteins: 
     ENSP00000392397   ENSP00000390968   ENSP00000292823   ENSP00000394617   ENSP00000400430  
     ENSP00000390458   ENSP00000402283   ENSP00000397888   ENSP00000402015   ENSP00000391405  
     ENSP00000393341  
    Reactome Protein details: P49585

    PCYT1A Human Recombinant Protein Products:

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    Novus Biologicals PCYT1A Proteins
    Novus Biologicals PCYT1A Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PCYT1A 

    PCYT1A Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PCYT1A
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    LSBio Antibodies in human, mouse, rat for PCYT1A

    PCYT1A Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for PCYT1A 


    (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 P49585

    ProtoNet protein and cluster: P49585

    1 Blocks protein domain: IPB004820 Cytidylyltransferase

    UniProtKB/Swiss-Prot: PCY1A_HUMAN, P49585
    Similarity: Belongs to the cytidylyltransferase family


    Find genes that share domains with PCYT1A           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: PCY1A_HUMAN, P49585
    Function: Controls phosphatidylcholine synthesis
    Catalytic activity: CTP + phosphocholine = diphosphate + CDP-choline
    Enzyme regulation: By phosphorylation (By similarity)

         Genatlas biochemistry entry for PCYT1A:
    CTP phosphocholine cytidyltransferase,42kDa,including 2 isoforms alpha and beta,regulator of phosphatidylcholine

         Enzyme Numbers (IUBMB): EC 2.7.7.151 2 EC 2.7.72

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004105choline-phosphate cytidylyltransferase activity ISS--
    GO:0005515protein binding ----
    GO:0008289lipid binding IEA--
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with PCYT1A           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PCYT1A:
     Decreased homologous recombina  Decreased viability of wild-ty  Increased G1 DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pcyt1a):
     cardiovascular system  embryogenesis  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  reproductive system  respiratory system 

    Find genes that share phenotypes with PCYT1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pcyt1atm1.1Irt for PCYT1A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCYT1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PCYT1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCYT1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCYT1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target PCYT1A:
    hsa-let-7b-5p (MIRT032475), hsa-mir-26a-5p (MIRT050150)

    Block miRNA regulation of human, mouse, rat PCYT1A using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PCYT1A:
    hsa-miR-3662 hsa-miR-4263 hsa-miR-4255 hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmidPCYT1A 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PCYT1A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PCYT1A (NM_005017)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCYT1A


    (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
    PCY1A_HUMAN, P49585: Cytoplasm, cytosol (By similarity). Membrane; Peripheral membrane protein (By similarity).
    Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    nucleus3
    cytosol2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol IEA--
    GO:0042587glycogen granule ISS--

    Find genes that share ontologies with PCYT1A           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 PCYT1A About   (see all 7)  
    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
    4Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics
    Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with PCYT1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for PCYT1A
        Ca, cAMP and Lipid Signaling
    Glucose / Energy Metabolism

    3 BioSystems Pathways for PCYT1A
        Acetylcholine Synthesis
    choline biosynthesis III
    phosphatidylcholine biosynthesis I

    1 Reactome Pathway for PCYT1A
        Synthesis of PC

    1 PharmGKB Pathway for PCYT1A
        Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    2 Kegg Pathways  (Kegg details for PCYT1A):
        Glycerophospholipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PCY1A_HUMAN, P49585
    Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step
    1/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCYT1A
    Interactions:

        Search GeneGlobe Interaction Network for PCYT1A

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

    Selected Interacting proteins for PCYT1A (P495853 ENSP000002928234) via UniProtKB, MINT, STRING, and/or I2D (see all 135)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA6O606843, ENSP000003627284I2D: score=5 STRING: ENSP00000362728
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    CASP8Q147903, ENSP000003512734I2D: score=2 STRING: ENSP00000351273
    HMGCS1Q015813, ENSP000003227064I2D: score=1 STRING: ENSP00000322706
    MORF4L1Q9UBU83, ENSP000003313104I2D: score=1 STRING: ENSP00000331310
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    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway ISS--
    GO:0009058biosynthetic process ----
    GO:0009628response to abiotic stimulus ----

    Find genes that share ontologies with PCYT1A           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 PCYT1A (PCY1A)

    Selected HMDB Compounds for PCYT1A (see all 1924)    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--
    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)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----

    2 DrugBank Compounds for PCYT1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7targetproduct of17184542 17218027
    Lamivudine-- 134678-17-4enzymesubstrate16870759 13673002

    6 Novoseek inferred chemical compound relationships for PCYT1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cdp choline 87.7 7 16380371 (2), 19098306 (1), 18980580 (1), 12659631 (1) (see all 5)
    phosphatidylcholine 79.7 32 15210848 (3), 15788406 (3), 16097951 (3), 18980580 (3) (see all 13)
    oleic acid 56.1 5 16097951 (2), 17959832 (1), 19098306 (1)
    phospholipid 50.1 4 18614529 (2), 15569411 (1), 17804406 (1)
    lipid 28.9 8 11148044 (3), 19098306 (2), 17959832 (1), 9593753 (1)
    retinoic acid 22.8 1 15788406 (1)



    Find genes that share compounds with PCYT1A           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 PCYT1A gene: 
    NM_005017.2  

    Unigene Cluster for PCYT1A:

    Phosphate cytidylyltransferase 1, choline, alpha
    Hs.135997  [show with all ESTs]
    Unigene Representative Sequence: BC042043
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441879 ENST00000419333 ENST00000292823(uc003fwg.3 uc003fwh.3)
    ENST00000431016 ENST00000460827 ENST00000411591 ENST00000433733 ENST00000430755
    ENST00000473978 ENST00000488235 ENST00000460677 ENST00000444822 ENST00000412869
    ENST00000438634 ENST00000491544 ENST00000443555
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate PCYT1A:
    hsa-miR-3662 hsa-miR-4263 hsa-miR-4255 hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmidPCYT1A 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for PCYT1A
    OriGene qSTAR qPCR primer pairs in human, mouse for PCYT1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PCYT1A
      QuantiTect SYBR Green Assays in human, mouse, rat PCYT1A
      QuantiFast Probe-based Assays in human, mouse, rat PCYT1A

    Additional mRNA sequence: 

    AK001567.1 AK129838.1 AK304534.1 AK309073.1 AK309300.1 AK313450.1 BC042043.1 BC046355.1 
    L28957.1 

    14 DOTS entries:

    DT.95263671  DT.455654  DT.442547  DT.120917000  DT.100785168  DT.40301819  DT.95263672  DT.120917038 
    DT.120917094  DT.75137296  DT.120917101  DT.97794328  DT.437055  DT.92442498 

    Selected AceView cDNA sequences (see all 281):

    BC046355 AI797138 AI969362 AW592735 BQ011732 AA902152 AI421111 BF063382 
    AI474667 BQ338788 CD368242 AI954061 CR601695 BQ227940 BG287641 BU183599 
    AI754450 AA044924 CA941727 AA527050 CF529516 BQ899075 BE465428 BU623791 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PCYT1A (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:                                                              -     -     -     -                       -                                             
    SP2:                                -                             -     -     -                                                                           
    SP3:                                -                             -     -                                                                                 
    SP4:                                                                                                        -           -     -                           
    SP5:        -     -     -     -     -                                                                                                                     


    ECgene alternative splicing isoforms for PCYT1A

    (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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    PCYT1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTGGGAT
    PCYT1A Expression
    About this image


    PCYT1A 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
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Larynx (Respiratory System)
    PCYT1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCYT1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.135997
        Custom PCR Arrays for PCYT1A
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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 eukaryotes.

    Orthologs for PCYT1A gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcyt1a1 , 5 phosphate cytidylyltransferase 1, choline, alpha isoform1, 5 89.74(n)1
    96.19(a)1
      16 (22.69 cM)5
    130261  NM_001163159.11  NP_001156631.11 
     324309215 
    chicken
    (Gallus gallus)
    Aves PCYT1A1 phosphate cytidylyltransferase 1, choline, alpha 80.6(n)
    89.34(a)
      424915  XM_422725.4  XP_422725.3 
    lizard
    (Anolis carolinensis)
    Reptilia PCYT1A6
    phosphate cytidylyltransferase 1, choline, alpha
    88(a)
    1 ↔ 1
    GL343887.1(33128-53170)
    African clawed frog
    (Xenopus laevis)
    Amphibia pcyt1a-prov2 phosphate cytidylyltransferase 1, choline, alpha isoform 78.99(n)    BC043868.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcyt1aa1 phosphate cytidylyltransferase 1, choline, alpha a 73.44(n)
    81.04(a)
      550327  NM_001017634.1  NP_001017634.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cct23
    Cct11
    choline-phosphate cytidylyltransferase3
    CTP:phosphocholine cytidylyltransferase 11
    57(a)
    (best of 2)3
    63.21(n)1
    61.92(a)1
      62A53
    1173531  NM_167894.21  NP_728628.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F08C6.23
    Y18H1A.111
    cholinephosphate cytidylyltransferase3
    Y18H1A.111
    47(a)
    (best of 2)3
    54(n)1
    54.15(a)1
      X(7613709-7615215)3
    3533801  NM_182093.41  NP_871893.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PCT16
    Cholinephosphate cytidylyltransferase, also known ...
    31(a)
    1 → many
    VII(903474-904748) YGR202C
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.50082 Vitis vinifera transcribed sequence with moderate similarity more 68.88(n)    CF513499.1 
    rice
    (Oryza sativa)
    Liliopsida AK070565.12   -- 71.4(n)    AK070565.1 


    ENSEMBL Gene Tree for PCYT1A (if available)
    TreeFam Gene Tree for PCYT1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCYT1A gene
    PCYT1B2  
    2 SIMAP similar genes for PCYT1A using alignment to 10 protein entries:     PCY1A_HUMAN (see all proteins):
    PCYT1B    PCYT2

    Find genes that share paralogs with PCYT1A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PCYT1A
    PGOHUM00000250274


    (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 PCYT1A (see all 1069)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422639121,2
    --195964759(+) TCCTTC/TGAAGG 1 -- int10--------
    rs1845178341,2
    C--195964774(+) TGGCAC/TGAAAG 1 -- int10--------
    rs1878112851,2
    --195964818(+) AGAGTC/TTTCTG 1 -- int10--------
    rs10549281,2
    C,F--195964883(-) ACACTG/AATGGG 1 -- int13Minor allele frequency- A:0.00MN NA 188
    rs1119087431,2
    F--195964903(+) CCCCAC/TTGGGT 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs738912311,2
    C,F--195964961(+) CTTCCC/TGCAGC 1 -- int12Minor allele frequency- T:0.09WA 120
    rs1148204601,2
    C,F--195964992(+) CAGTAC/TGTTCA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1927649061,2
    --195965001(+) CAGGGA/GATTTG 1 -- int10--------
    rs1842647521,2
    --195965081(+) ATCAGC/TGTGGC 1 -- int10--------
    rs1441950261,2
    --195965082(+) TCAGCA/GTGGCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for PCYT1A (195941093 - 196014828 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PCYT1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658720CNV Deletion23128226
    nsv518925CNV Loss19592680
    nsv878182CNV Loss21882294
    nsv878175CNV Loss21882294
    dgv5373n71CNV Gain21882294
    dgv5372n71CNV Gain21882294
    dgv1549e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (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: 123695   
    OMIM disorders: 608940  
    1 disease for PCYT1A:    
    About MalaCards
    spondylometaphyseal dysplasia with cone-rod dystrophy

    1 disease from the University of Copenhagen DISEASES database for PCYT1A:
    Cholera

    Find genes that share disorders with PCYT1A           About GenesLikeMe

    Genetic Association Database (GAD): PCYT1A
    Human Genome Epidemiology (HuGE) Navigator: PCYT1A (5 documents)

    Export disorders for PCYT1A 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 PCYT1A gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with PCYT1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population. (PubMed id 17184542)1, 4, 7 Enaw J.O....Finnell R.H. (BMC Med 2006)
    2. Primary structure and expression of a human CTP:phosphocholine cytidylyltransferase. (PubMed id 7918629)1, 2, 3 Kalmar G.B.... Cornell R.B. (Biochim. Biophys. Acta 1994)
    3. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. (PubMed id 19737740)1, 4 Mostowska A....Jagodzinski P.P. (J. Med. Genet. 2010)
    4. Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. (PubMed id 20662904)1, 4 Mostowska A....Jagodzinski P.P. (Eur. J. Oral Sci. 2010)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Membrane binding modulates the quaternary structure of CTP:phosphocholine cytidylyltransferase. (PubMed id 15069071)1, 2 Xie M.... Cornell R.B. (J. Biol. Chem. 2004)
    8. Structure of the membrane binding domain of CTP:phosphocholine cytidylyltransferase. (PubMed id 8810902)1, 2 Dunne S.J.... Tracey A.S. (Biochemistry 1996)
    9. Membrane-binding amphipathic alpha-helical peptide derived from CTP:phosphocholine cytidylyltransferase. (PubMed id 8155650)1, 2 Johnson J.E. and Cornell R.B. (Biochemistry 1994)
    10. Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. (PubMed id 10480912)1, 9 Lykidis A.... Jackowski S. (J. Biol. Chem. 1999)

    (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: 5130 HGNC: 8754 AceView: PCYT1A Ensembl:ENSG00000161217 euGenes: HUgn5130
    ECgene: PCYT1A Kegg: 5130 H-InvDB: PCYT1A

    (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 PCYT1A Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/pcyt1a/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PCYT1A gene:
    Search GeneIP for patents involving PCYT1A

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



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