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

PPCS Gene

protein-coding   GIFtS: 56
GCID: GC01P042921

Phosphopantothenoylcysteine Synthetase

  See related diseases
at  

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

Aliases
Phosphopantothenoylcysteine Synthetase1 2 3
PPC Synthetase2 3
Phosphopantothenate--Cysteine Ligase2
COAB3
EC 6.3.2.53

External Ids:    HGNC: 256861   Entrez Gene: 797172   Ensembl: ENSG000001271257   OMIM: 6098535   UniProtKB: Q9HAB83   

Export aliases for PPCS gene to outside databases

Previous GC identifers: GC01P042592 GC01P042694 GC01P041042


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

Entrez Gene summary for PPCS Gene:
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in
prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts
phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 (PubMed 11923312)).(supplied by OMIM,
Mar 2008)

GeneCards Summary for PPCS Gene: 
PPCS (phosphopantothenoylcysteine synthetase) is a protein-coding gene. Diseases associated with PPCS include posterior polar cataract, and peritoneal carcinoma, and among its related super-pathways are Vitamin B5 (pantothenate) metabolism and Metabolic pathways. GO annotations related to this gene include phosphopantothenate--cysteine ligase activity.

UniProtKB/Swiss-Prot: PPCS_HUMAN, Q9HAB8
Function: Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated
to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PPCS gene promoter:
         Elk-1   RFX1   CUTL1   Tal-1beta   E47   Evi-1   YY1   HEN1   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPCS promoter sequence
   Search SABiosciences Chromatin IP Primers for PPCS

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


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P042921:  view genomic region     (about GC identifiers)

Start:
42,921,788 bp from pter      End:
42,939,056 bp from pter
Size:
17,269 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: PPCS_HUMAN, Q9HAB8 (See protein sequence)
Recommended Name: Phosphopantothenate--cysteine ligase  
Size: 311 amino acids; 34005 Da
Subunit: Homodimer
Miscellaneous: The mammalian enzyme has a preference for ATP over CTP, in contrast to the E.coli ortholog
Sequence caution: Sequence=BAB13931.1; Type=Frameshift; Positions=282;
1 PDB 3D structure from and Proteopedia for PPCS:
1P9O (3D)    
Secondary accessions: Q3KQT2 Q5VVM0
Alternative splicing: 2 isoforms:  Q9HAB8-1   Q9HAB8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPCS: NX_Q9HAB8

Explore proteomics data for PPCS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAB8

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

    PPCS Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001070915.1  NP_078940.2  

    ENSEMBL proteins: 
     ENSP00000361643   ENSP00000361641   ENSP00000361642   ENSP00000361637   ENSP00000389893  
    Reactome Protein details: Q9HAB8
    Human Recombinant Protein Products for PPCS: 
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    Novus Biologicals PPCS Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PPCS
    Cloud-Clone Corp. Proteins for PPCS 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PPCS for ontologies           About GeneDecksing



    PPCS Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PPCS 
    Cloud-Clone Corp. CLIAs for PPCS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007085 DNA/pantothenate-metab_flavo_C

    Graphical View of Domain Structure for InterPro Entry Q9HAB8

    ProtoNet protein and cluster: Q9HAB8

    1 Blocks protein domain: IPB007085 DNA/pantothenate metabolism flavoprotein

    UniProtKB/Swiss-Prot: PPCS_HUMAN, Q9HAB8
    Similarity: Belongs to the PPC synthetase family


    PPCS for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPCS_HUMAN, Q9HAB8
    Function: Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated
    to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine
    Catalytic activity: CTP + (R)-4'-phosphopantothenate + L-cysteine = CMP + diphosphate +
    N-((R)-4'-phosphopantothenoyl)-L-cysteine

         Enzyme Number (IUBMB): EC 6.3.2.51

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004632phosphopantothenate--cysteine ligase activity TAS--
         
    PPCS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PPCS:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PPCS 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPCS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPCS 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PPCS
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate PPCS (see all 10):
    hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-211 hsa-miR-204 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidPPCS 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPCS


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PPCS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Coenzyme A biosynthesis
    Vitamin B5 (pantothenate) metabolism0.73
    Pantothenate and CoA biosynthesis0.40
    Coenzyme A biosynthesis0.73
    coenzyme A biosynthesis0.38
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PPCS
        coenzyme A biosynthesis

    5        Reactome Pathways for PPCS
        Coenzyme A biosynthesis
    Metabolism
    Metabolism of vitamins and cofactors
    Vitamin B5 (pantothenate) metabolism
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for PPCS):
        Pantothenate and CoA biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PPCS_HUMAN, Q9HAB8
    Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5


    PPCS for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/24 Interacting proteins for PPCS (Q9HAB83 ENSP000003616424) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMPD2Q014333I2D: score=1 
    ATAD2Q6PL183I2D: score=1 
    CTPS1P178123I2D: score=1 
    GGPS1O957493I2D: score=1 
    GMPSP499153I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009108coenzyme biosynthetic process TAS--
    GO:0015937coenzyme A biosynthetic process IEA--
    GO:0015939pantothenate metabolic process TAS--

    PPCS for ontologies           About GeneDecksing



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

    PPCS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPCS

    9 HMDB Compounds for PPCS    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-PhosphopantothenoylcysteinePantothenoylcysteine 4'-phosphate (see all 11)7196-09-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    D-4'-Phosphopantothenate(R)-4'-phosphopantothenate (see all 5)----
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for PPCS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 50.6 6 19683078 (3), 19902973 (1)

    Search CenterWatch for drugs/clinical trials and news about PPCS

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

    REFSEQ mRNAs for PPCS gene (2 alternative transcripts): 
    NM_001077447.1  NM_024664.2  

    Unigene Cluster for PPCS:

    Phosphopantothenoylcysteine synthetase
    Hs.706662  [show with all ESTs]
    Unigene Representative Sequence: BC062586
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372562 ENST00000372560 ENST00000472013(uc001chl.3) ENST00000372561
    ENST00000372556 ENST00000471420 ENST00000482168 ENST00000469615 ENST00000455780(uc001chk.3)

    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate PPCS (see all 10):
    hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-211 hsa-miR-204 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidPPCS 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PPCS (NM_024664)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPCS
    Sirion Biotech Customized lentivirus for stable overexpression of PPCS 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PPCS

    Additional mRNA sequence: 

    AK021900.1 BC012383.1 BC062586.1 BC104938.1 BC106064.1 BC112015.1 

    19 DOTS entries:

    DT.65287806  DT.91719906  DT.121458404  DT.111582  DT.100788612  DT.100788611  DT.121458442  DT.121458355 
    DT.92440778  DT.100801277  DT.121458384  DT.100705813  DT.121458280  DT.75121871  DT.91739243  DT.102821075 
    DT.309714  DT.455445  DT.92440781 

    24/289 AceView cDNA sequences (see all 289):

    BX640642 AA173459 AI281162 BQ430049 AA916957 CA429995 BM314183 BI906474 
    AI681821 CB853643 BM923950 BI334597 BQ015988 AL832217 BQ212766 CA424850 
    CB529291 CK821283 BM714429 BM675220 BM922732 CR606199 AI916431 CA396665 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PPCS (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e
    SP1:        -     -     -     -     -           -     -                                 
    SP2:        -     -     -     -     -                                                   
    SP3:                                -           -     -                                 
    SP4:                                            -     -                                 
    SP5:                          -     -           -     -                                 


    ECgene alternative splicing isoforms for PPCS

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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.706662
        SABiosciences Custom PCR Arrays for PPCS
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PPCS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPCS

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PPCS gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppcs1 , 5 phosphopantothenoylcysteine synthetase1, 5 85.53(n)1
    87.46(a)1
      4 (55.38 cM)5
    1065641  NM_026494.31  NP_080770.21 
     1194185305 
    chicken
    (Gallus gallus)
    Aves LOC1008597891 phosphopantothenate--cysteine ligase-like 67.14(n)
    67.84(a)
      100859789  XM_003642536.1  XP_003642584.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154232 Xenopus laevis transcribed sequence with weak similarity more 73.96(n)    BX855346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppcs1 phosphopantothenoylcysteine synthetase 59.33(n)
    58.67(a)
      561272  NM_001045240.1  NP_001038705.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ppcs1 Phosphopantothenoylcysteine synthetase 50.12(n)
    41.96(a)
      42295  NM_169848.2  NP_732401.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.61 Protein Y71H2AM.6 49.2(n)
    45.2(a)
      175394  NM_065215.3  NP_497616.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAB2(YIL083C)4
    CAB21
    Probable phosphopantothenoylcysteine synthetase (PPCS), more4
    Cab2p1
    46.77(n)1
    43.35(a)1
      9(204653-203556)4
    8547261, 4  NP_012183.21  NP_012183.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G020801 phosphopantothenate--cysteine ligase 2 50.48(n)
    48.16(a)
      831921  NM_120286.1  NP_195828.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05752001 hypothetical protein 52.3(n)
    46.13(a)
      4329749  NM_001053746.1  NP_001047211.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PPCS gene

    PPCS for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PPCS
    PGOHUM00000243388


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

    10/58 SNPs in PPCS are shown (see all 58)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs799906451,2
    C,F--42924003(+) GGTAGG/ATGTGG 2 -- int11Minor allele frequency- A:0.02NA 120
    rs1853833191,2
    --42924033(+) GAACCC/TTCAGG 2 -- int10--------
    rs1151488491,2
    F--42924046(+) TTCTTA/TGTCAT 2 -- int11Minor allele frequency- T:0.02WA 118
    rs1458620691,2
    --42924052(+) GTCATG/TTATTG 2 -- int10--------
    rs1386942981,2
    --42924226(+) AATAAA/GTAAGT 2 -- int10--------
    rs1492391981,2
    --42924262(+) ATAAAG/TGCTAA 2 -- int10--------
    rs795260211,2
    C,F--42924306(+) GATCCC/TTATCA 2 -- int11Minor allele frequency- T:0.05NA 120
    rs1898070871,2
    --42924334(+) TAGGGC/TAAAGT 2 -- int10--------
    rs1438370541,2
    --42924395(+) TTTATC/TCCACA 2 -- int10--------
    rs1820991401,2
    --42924433(+) AAGCAA/GCTGAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for PPCS (42921788 - 42939056 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PPCS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv870704CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PPCS
    DNA2.0 Custom Variant and Variant Library Synthesis for PPCS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609853    OMIM disorders: --

    5 diseases for PPCS:    About MalaCards
    posterior polar cataract    peritoneal carcinoma    pneumothorax    peritonitis
    cataract


    PPCS for disorders           About GeneDecksing


    Export disorders for PPCS gene to outside databases

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

    PubMed articles for PPCS gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with PPCS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PubMed id 11923312)1, 2, 3 Daugherty M....Osterman A. (2002)
    2. Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. (PubMed id 12906824)1, 2, 9 Manoj N.... Ealick S.E. (2003)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Kinetic characterization of human phosphopantothenoyl cysteine synthetase. (PubMed id 19683078)1, 9 Yao J. and Dotson G.D. (2009)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79717 HGNC: 25686 AceView: FLJ11838andFLJ20972 Ensembl:ENSG00000127125 euGenes: HUgn79717
    ECgene: PPCS Kegg: 79717 H-InvDB: PPCS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PPCS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PPCS Genetics and Cytogenetics in Oncology and Haematology

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

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



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