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PPCS Gene(Protein Coding)

Phosphopantothenoylcysteine Synthetase

GCID:
GC01P042456
GIFtS:
47
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. Diseases associated with PPCS include Pleural Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (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.

Additional gene information for PPCS Gene

No data available for CIViC summary , 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

GeneHancer (GH) Regulatory Elements for PPCS Gene

Promoters and enhancers for PPCS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I042454 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -249 3.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF213 PPCS ZMYND12 CCDC30 FOXJ3 PPIH PIR31959
GH01I042339 Enhancer 0.9 ENCODE 10.1 -115.7 -115710 2.1 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ETS1 FOS REST ZMYND12 P3H1 RNU6-536P ENSG00000236180 PPCS GUCA2B PPIH YBX1 CCDC30 ENSG00000227527
GH01I042222 Enhancer 0.8 ENCODE 10 -233.6 -233563 0.7 HDAC1 PKNOX1 CHAMP1 RCOR1 FOS CEBPB ZEB2 MEF2D SP1 ZFP69B GUCA2B PPCS ZMYND12 YBX1 GC01M042279 GC01P042164 PIR49391 FOXJ3
GH01I042419 Enhancer 0.7 ENCODE 10.8 -35.6 -35623 2.6 ZBTB6 NFIB FEZF1 ZIC2 ZNF335 POLR2A ZBTB48 PATZ1 PRDM10 RCOR1 ZMYND12 SVBP PPIH PPCS RNU6-536P ENSG00000236180 CLDN19 YBX1 PIR31959 RIMKLA
GH01I042430 Enhancer 0.6 ENCODE 11 -24.8 -24770 1.7 FOXA2 RXRA FOXA3 JUND IKZF1 ETV4 HNF4G HNF4A IKZF2 KDM6A ZMYND12 PPCS ENSG00000236180 RNU6-536P CCDC30 P3H1 YBX1 PIR31959
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPCS on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PPCS Gene

Genomic Locations for PPCS Gene
chr1:42,456,117-42,473,385
(GRCh38/hg38)
Size:
17,269 bases
Orientation:
Plus strand
chr1:42,921,788-42,939,056
(GRCh37/hg19)

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

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

Gene Families for PPCS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

Function for PPCS Gene

Products:

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

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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

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,HDA 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

(7) 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, Investigational Nutra 0
L-Cysteine Approved Nutra 0
Cytidine monophosphate Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0

(3) 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
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

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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for PPCS Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Lung(2.6)
  • Blood(2.2)
  • Muscle(2.2)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with PPCS: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 90.87 (n)
cow
(Bos Taurus)
 Mammalia PPCS 34
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PPCS 33 34
  • 88 (n)
mouse
(Mus musculus)
 Mammalia Ppcs 33 16 34
  • 85.53 (n)
rat
(Rattus norvegicus)
 Mammalia Ppcs 33
  • 85.32 (n)
oppossum
(Monodelphis domestica)
 Mammalia PPCS 34
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PPCS 34
  • 69 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PPCS 33 34
  • 67.64 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia ppcs 33
  • 63.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.15423 33
zebrafish
(Danio rerio)
 Actinopterygii ppcs 33 34
  • 59.33 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004311 33
  • 50.82 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Ppcs 33 34
  • 50.12 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y71H2AM.6 33 34
  • 49.8 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGR391W 33
  • 50.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E08757g 33
  • 48.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CAB2 33 34 36
  • 46.54 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G02080 33
  • 50.34 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0176100 33
  • 51.23 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU09090 33
  • 52.32 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC4B3.18 33
  • 47.65 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000014577 -- 42,460,994(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000283476 -- 42,468,105(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000397799 -- 42,467,837(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000445416 -- 42,465,585(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000546667 -- 42,456,445(+) T/C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for PPCS Gene - From: DISEASES

Disorder Aliases PubMed IDs
pleural disease
  • disorder of pleura
- elite association - COSMIC cancer census association via MalaCards
Search PPCS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPCS

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPCS: view

No data available for 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 SE (Structure (London, England : 1993) 2003) 3 4 22 58
  2. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PMID: 11923312) Daugherty M … Osterman A (The Journal of biological chemistry 2002) 2 3 4 58
  3. Kinetic characterization of human phosphopantothenoylcysteine synthetase. (PMID: 19683078) Yao J … Dotson GD (Biochimica et biophysica acta 2009) 3 22 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PPCS Gene

Sources for PPCS Gene

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