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PPCS Gene(Protein Coding)

Phosphopantothenoylcysteine Synthetase

GCID:
GC01P042456
GIFtS:
54
Genes Participants
UDN Logo

Aliases for PPCS Gene

Aliases for PPCS Gene

  • Phosphopantothenoylcysteine Synthetase 2 3 4 5
  • PPC Synthetase 4
  • EC 6.3.2.5 4
  • COAB 4

External Ids for PPCS Gene

Previous GeneCards Identifiers for PPCS Gene

  • GC01P042592
  • GC01P042694
  • GC01P042921
  • GC01P041042

Summaries for PPCS Gene

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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include phosphopantothenate--cysteine ligase activity.

UniProtKB/Swiss-Prot for PPCS Gene

  • Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4-phosphopantothenate to form 4-phosphopantothenoylcysteine.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPCS Gene

Genomics for PPCS Gene

Products:

  1. Regulatory Element

Regulatory Elements for PPCS Gene

Enhancers for PPCS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F042657 1.2 ENCODE 10 +202.2 202248 2.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PPIH SZT2 SVBP KDM4A LOC105378687 PPCS CCDC30 ENSG00000234917
GH01F042333 1.2 ENCODE 10 -120.7 -120652 4.5 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC FOXJ3 HNRNPFP1 MKRN8P CCDC30 LOC101929901 CLDN19 GUCA2B PPCS PPIH RNU6-536P
GH01F042222 1.1 Ensembl ENCODE 10 -233.6 -233563 0.7 HDAC1 PKNOX1 FEZF1 CHAMP1 GATA2 RCOR1 FOS CEBPB ZEB2 MEF2D GUCA2B PPCS ZMYND12 YBX1 PIR49391 GC01M042279 GC01P042164
GH01F042845 1.1 ENCODE 10 +390.8 390841 2.4 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF143 FOS CEBPZ FOXJ3 SZT2 PPIH LOC105378687 PPCS ERMAP ZNF691 PIR46792
GH01F043171 1.1 ENCODE 9.9 +716.0 715951 1.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF143 ZNF207 ZNF263 FAM183A PPCS SZT2 CFAP57 GC01P043169
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPCS on UCSC Golden Path with GeneCards custom track

Promoters for PPCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076728 383 2201 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143

Transcription factor binding sites by QIAGEN in the PPCS gene promoter:

Genomic Location for PPCS Gene

Chromosome:
1
Start:
42,456,117 bp from pter
End:
42,473,385 bp from pter
Size:
17,269 bases
Orientation:
Plus strand

Genomic View for PPCS Gene

Genes around PPCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPCS Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PPCS Gene

Proteins for PPCS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PPCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAB8-PPCS_HUMAN
    Recommended name:
    Phosphopantothenate--cysteine ligase
    Protein Accession:
    Q9HAB8
    Secondary Accessions:
    • Q3KQT2
    • Q5VVM0

    Protein attributes for PPCS Gene

    Size:
    311 amino acids
    Molecular mass:
    34005 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The mammalian enzyme has a preference for ATP over CTP, in contrast to the E.coli ortholog.
    SequenceCaution:
    • Sequence=BAB13931.1; Type=Frameshift; Positions=282; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPCS Gene

    Alternative splice isoforms for PPCS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPCS Gene

Protein Expression for PPCS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PPCS Gene

  • Ubiquitination at Lys 224
  • Modification sites at PhosphoSitePlus

Other Protein References for PPCS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPCS Gene

Domains & Families for PPCS Gene

Protein Domains for PPCS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PPCS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAB8

UniProtKB/Swiss-Prot:

PPCS_HUMAN :
  • Belongs to the PPC synthetase family.
Family:
  • Belongs to the PPC synthetase family.
genes like me logo Genes that share domains with PPCS: view

No data available for Gene Families for PPCS Gene

Function for PPCS Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PPCS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + (R)-4-phosphopantothenate + L-cysteine = CMP + diphosphate + N-((R)-4-phosphopantothenoyl)-L-cysteine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PPCS Gene

Gene Ontology (GO) - Molecular Function for PPCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004632 phosphopantothenate--cysteine ligase activity TAS --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with PPCS: view
genes like me logo Genes that share phenotypes with PPCS: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPCS Gene

Localization for PPCS Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPCS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PPCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PPCS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPCS Gene

Pathways & Interactions for PPCS Gene

genes like me logo Genes that share pathways with PPCS: view

UniProtKB/Swiss-Prot Q9HAB8-PPCS_HUMAN

  • Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5.

Gene Ontology (GO) - Biological Process for PPCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009108 coenzyme biosynthetic process TAS --
GO:0015937 coenzyme A biosynthetic process IEA --
genes like me logo Genes that share ontologies with PPCS: view

No data available for SIGNOR curated interactions for PPCS Gene

Drugs & Compounds for PPCS Gene

Products:

  1. Drug

(6) Drugs for PPCS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Cysteine Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0

(4) Additional Compounds for PPCS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Phosphopantothenoylcysteine
  • (R)-4'-phospho-N-pantothenoyl-L-cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-b-alanyl]-L-Cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-beta-alanyl]-L-Cysteine
  • 4'-P-N-Pantothenoylcysteine
  • 4'-Phospho-N-pantothenoylcysteine
 7196-09-0
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
 63-37-6
D-4'-Phosphopantothenate
  • (R)-4'-phosphopantothenate
  • 4'-P-Pantothenate
  • 4'-Phosphopantothenate
  • D-4'-Phosphopantothenate
  • D-4'-Phosphopantothenic acid
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with PPCS: view

Transcripts for PPCS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PPCS Gene

(8) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(289) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPCS Gene

Phosphopantothenoylcysteine synthetase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPCS Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6:
SP7: - -

Relevant External Links for PPCS Gene

GeneLoc Exon Structure for
PPCS
ECgene alternative splicing isoforms for
PPCS

Expression for PPCS Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPCS Gene

mRNA expression in normal human tissues for PPCS Gene
mRNA expression by BioGPS for PPCS GenemRNA expression by GTEx for PPCS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPCS Gene

This gene is overexpressed in Oral epithelium (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPCS Gene



Protein tissue co-expression partners for PPCS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPCS Gene:

PPCS

SOURCE GeneReport for Unigene cluster for PPCS Gene:

Hs.706662
genes like me logo Genes that share expression patterns with PPCS: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPCS Gene

Orthologs for PPCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPCS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PPCS 34 35
  • 90.87 (n)
cow
(Bos Taurus)
 Mammalia PPCS 35
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PPCS 34 35
  • 88 (n)
mouse
(Mus musculus)
 Mammalia Ppcs 34 16 35
  • 85.53 (n)
rat
(Rattus norvegicus)
 Mammalia Ppcs 34
  • 85.32 (n)
oppossum
(Monodelphis domestica)
 Mammalia PPCS 35
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPCS 35
  • 69 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PPCS 34 35
  • 67.64 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia ppcs 34
  • 63.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.15423 34
zebrafish
(Danio rerio)
 Actinopterygii ppcs 34 35
  • 59.33 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004311 34
  • 50.82 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Ppcs 34 35
  • 50.12 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y71H2AM.6 34 35
  • 49.8 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGR391W 34
  • 50.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E08757g 34
  • 48.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CAB2 34 35 37
  • 46.54 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G02080 34
  • 50.34 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0176100 34
  • 51.23 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU09090 34
  • 52.32 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC4B3.18 34
  • 47.65 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 38 (a)
 OneToOne
Species where no ortholog for PPCS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPCS Gene

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

Paralogs for PPCS Gene

Pseudogenes.org Pseudogenes for PPCS Gene

genes like me logo Genes that share paralogs with PPCS: view

No data available for Paralogs for PPCS Gene

Variants for PPCS Gene

Sequence variations from dbSNP and Humsavar for PPCS Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs111409266 -- 42,461,637(+) TGCCT(C/T)CCGGG intron-variant, downstream-variant-500B
rs111518105 -- 42,454,520(+) TACCT(C/T)CCTCT intron-variant, upstream-variant-2KB
rs111528153 -- 42,471,188(+) ATTGA(C/T)CTGAA intron-variant
rs111614527 -- 42,472,210(+) ATCAC(A/G)CCACT intron-variant
rs111815594 -- 42,465,737(+) CGTAA(A/G)CATTT intron-variant

Variation tolerance for PPCS Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPCS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPCS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPCS Gene

Disorders for PPCS Gene

Relevant External Links for PPCS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPCS

No disorders were found for PPCS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPCS Gene

Publications for PPCS Gene

  1. Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. (PMID: 12906824) Manoj N. … Ealick S.E. (Structure 2003) 3 4 22 64
  2. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PMID: 11923312) Daugherty M. … Osterman A. (J. Biol. Chem. 2002) 2 3 4 64
  3. Kinetic characterization of human phosphopantothenoylcysteine synthetase. (PMID: 19683078) Yao J. … Dotson G.D. (Biochim. Biophys. Acta 2009) 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PPCS Gene

Sources for PPCS Gene

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