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PPCS Gene

protein-coding   GIFtS: 54
GCID: GC01P042921

Phosphopantothenoylcysteine Synthetase

  See PPCS-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 methylmalonic aciduria and homocystinuria type cblg, and methylmalonic aciduria and homocystinuria type cble. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for PPCS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Ubiquitination2 at Lys224
  • Modification sites at PhosphoSitePlus

  • See PPCS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001070915.1  NP_001274435.1  NP_001274436.1  NP_001274437.1  NP_001274438.1  NP_001274439.1  NP_001274440.1  NP_078940.2  

    ENSEMBL proteins: 
     ENSP00000361643   ENSP00000361641   ENSP00000361642   ENSP00000361637   ENSP00000389893  
    Reactome Protein details: Q9HAB8

    PPCS Human Recombinant Protein Products:

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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

     
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    antibodies-online proteins for PPCS (4 products) 

     
    antibodies-online peptides for PPCS

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    antibodies-online antibodies for PPCS (7 products) 

    PPCS Assay Products:

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    Cloud-Clone Corp. CLIAs for PPCS
    Search eBioscience for ELISAs for PPCS 
    antibodies-online kits for PPCS (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PPCS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004632phosphopantothenate--cysteine ligase activity TAS--
         
    Find genes that share ontologies with PPCS           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PPCS

    miRNA
    Products:
        
    miRTarBase miRNAs that target PPCS:
    hsa-mir-186-5p (MIRT044998), hsa-mir-32-5p (MIRT028370), hsa-mir-375 (MIRT019904)

    Block miRNA regulation of human, mouse, rat PPCS using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat PPCS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PPCS (NM_024664)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPCS


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with PPCS           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 PPCS About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defects in cobalamin (B12) metabolism1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in vitamin and cofactor metabolism1.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Pantothenate and CoA biosynthesis
    Pantothenate and CoA biosynthesis
    4Disease
    Disease


    Find genes that share SuperPaths with PPCS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PPCS
        coenzyme A biosynthesis

    1 Reactome Pathway for PPCS
        Coenzyme A biosynthesis


    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

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

        Search GeneGlobe Interaction Network for PPCS

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

    Selected Interacting proteins for PPCS (Q9HAB83 ENSP000003616424) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

    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): Selected biological process terms (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--

    Find genes that share ontologies with PPCS           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 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)



    Find genes that share compounds with PPCS           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 PPCS gene (8 alternative transcripts): 
    NM_001077447.2  NM_001287506.1  NM_001287507.1  NM_001287508.1  NM_001287509.1  NM_001287510.1  NM_001287511.1  NM_024664.3  

    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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    Block miRNA regulation of human, mouse, rat PPCS using miScript Target Protectors
    Selected qRT-PCR 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)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PPCS
      QuantiFast Probe-based Assays in human, mouse, rat PPCS

    Selected AceView cDNA sequences (see all 289):

    CB529281 BM831706 BF431850 AL832217 BM714429 CR595942 CR615199 CA429995 
    AA173459 AI917764 CB131138 AI025472 AI281162 BM314183 AI571556 BQ015988 
    CR606199 BX640642 AU119781 CB529291 AA503661 AI681821 BQ636866 BC062586 

    GeneLoc Exon Structure

    Selected 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™, 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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    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

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

    PPCS Protein Expression
        Custom PCR Arrays for PPCS
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PPCS gene from Selected species (see all 22)    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 PPCS1 phosphopantothenoylcysteine synthetase 67.64(n)
    68.5(a)
      100859789  XM_004947533.1  XP_004947590.1 
    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_169848.3  NP_732401.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.61 Y71H2AM.6 49.8(n)
    46.96(a)
      175394  NM_065215.4  NP_497616.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAB2(YIL083C)4
    CAB21
    Probable phosphopantothenoylcysteine synthetase (PPCS), more4
    CAB21
    46.54(n)1
    43.02(a)1
      9(204653-203556)4
    8547261, 4  NP_012183.21  NP_012183.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G020801 AT5G02080 50.34(n)
    47.77(a)
      831921  NM_120286.1  NP_195828.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01761001 Os08g0176100 51.23(n)
    46.67(a)
      4344795  NM_001067651.1  NP_001061116.1 


    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)
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    Paralogs for PPCS gene

    Find genes that share paralogs with PPCS           About GenesLikeMe


    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), 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 PPCS (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609853    OMIM disorders: --

    6 diseases for PPCS:    
    About MalaCards
    methylmalonic aciduria and homocystinuria type cblg    methylmalonic aciduria and homocystinuria type cble    intrinsic factor deficiency    methylmalonic aciduria and homocystinuria type cblc
    methylmalonic aciduria and homocystinuria type cbld    methylmalonic aciduria and homocystinuria type cblf


    Find genes that share disorders with PPCS           About GenesLikeMe


    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)
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    PubMed articles for PPCS gene, integrated from 10 sources (see all 20):
    (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. (J. Biol. Chem. 2002)
    2. Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. (PubMed id 12906824)1, 2, 9 Manoj N.... Ealick S.E. (Structure 2003)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 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. (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. Kinetic characterization of human phosphopantothenoylcysteine synthetase. (PubMed id 19683078)1, 9 Yao J. and Dotson G.D. (Biochim. Biophys. Acta 2009)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. 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. (Nat. Cell Biol. 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. 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)

    (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: 79717 HGNC: 25686 AceView: FLJ11838andFLJ20972 Ensembl:ENSG00000127125 euGenes: HUgn79717
    ECgene: PPCS Kegg: 79717 H-InvDB: PPCS

    (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 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.)
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    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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