Human Gene PPCS (uc001chl.3) Description and Page Index
  Description: Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.
RefSeq Summary (NM_024664): Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC, one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:42,922,173-42,926,086 Size: 3,914 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr1:42,922,237-42,925,597 Size: 3,361 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:42,922,173-42,926,086)mRNA (may differ from genome)Protein (311 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Phosphopantothenate--cysteine ligase; EC=; AltName: Full=Phosphopantothenoylcysteine synthetase; Short=PPC synthetase;
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.
PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 2/5.
SUBUNIT: Homodimer.
MISCELLANEOUS: The mammalian enzyme has a preference for ATP over CTP, in contrast to the E.coli ortholog.
SIMILARITY: Belongs to the PPC synthetase family.
SEQUENCE CAUTION: Sequence=BAB13931.1; Type=Frameshift; Positions=282;

-  MalaCards Disease Associations
  MalaCards Gene Search: PPCS
Diseases sorted by gene-association score: pleural disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.75 RPKM in Adrenal Gland
Total median expression: 825.38 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.2064-0.566 Picture PostScript Text
3' UTR -113.32489-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007085 - DNA/pantothenate-metab_flavo_C

Pfam Domains:
PF04127 - DNA / pantothenate metabolism flavoprotein

SCOP Domains:
102645 - Phosphopantothenoylcysteine synthetase

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9HAB8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004632 phosphopantothenate--cysteine ligase activity
GO:0016874 ligase activity

Biological Process:
GO:0009108 coenzyme biosynthetic process
GO:0015937 coenzyme A biosynthetic process

Cellular Component:
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  KJ894717 - Synthetic construct Homo sapiens clone ccsbBroadEn_04111 PPCS gene, encodes complete protein.
BC104938 - Homo sapiens phosphopantothenoylcysteine synthetase, mRNA (cDNA clone MGC:132598 IMAGE:8143941), complete cds.
BC112015 - Homo sapiens phosphopantothenoylcysteine synthetase, mRNA (cDNA clone MGC:138220 IMAGE:8327483), complete cds.
LF206597 - JP 2014500723-A/14100: Polycomb-Associated Non-Coding RNAs.
BC062586 - Homo sapiens phosphopantothenoylcysteine synthetase, mRNA (cDNA clone IMAGE:5213308).
BC106064 - Homo sapiens phosphopantothenoylcysteine synthetase, mRNA (cDNA clone MGC:117357 IMAGE:3913530), complete cds.
JD199966 - Sequence 180990 from Patent EP1572962.
AK021900 - Homo sapiens cDNA FLJ11838 fis, clone HEMBA1006624, weakly similar to DNA/PANTOTHENATE METABOLISM FLAVOPROTEIN HOMOLOG.
BC012383 - Homo sapiens phosphopantothenoylcysteine synthetase, mRNA (cDNA clone IMAGE:3857640), **** WARNING: chimeric clone ****.
LF210686 - JP 2014500723-A/18189: Polycomb-Associated Non-Coding RNAs.
JD025472 - Sequence 6496 from Patent EP1572962.
JD033962 - Sequence 14986 from Patent EP1572962.
JD048424 - Sequence 29448 from Patent EP1572962.
JD087421 - Sequence 68445 from Patent EP1572962.
LF206596 - JP 2014500723-A/14099: Polycomb-Associated Non-Coding RNAs.
LF356430 - JP 2014500723-A/163933: Polycomb-Associated Non-Coding RNAs.
JD528963 - Sequence 509987 from Patent EP1572962.
JD087748 - Sequence 68772 from Patent EP1572962.
JD545757 - Sequence 526781 from Patent EP1572962.
LF340078 - JP 2014500723-A/147581: Polycomb-Associated Non-Coding RNAs.
LF356429 - JP 2014500723-A/163932: Polycomb-Associated Non-Coding RNAs.
MA442174 - JP 2018138019-A/14100: Polycomb-Associated Non-Coding RNAs.
MA446263 - JP 2018138019-A/18189: Polycomb-Associated Non-Coding RNAs.
MA442173 - JP 2018138019-A/14099: Polycomb-Associated Non-Coding RNAs.
MA592007 - JP 2018138019-A/163933: Polycomb-Associated Non-Coding RNAs.
MA575655 - JP 2018138019-A/147581: Polycomb-Associated Non-Coding RNAs.
MA592006 - JP 2018138019-A/163932: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00770 - Pantothenate and CoA biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
COA-PWY - coenzyme A biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9HAB8 (Reactome details) participates in the following event(s):

R-HSA-196753 2xPPCS ligates PPanK with Cys
R-HSA-196783 Coenzyme A biosynthesis
R-HSA-199220 Vitamin B5 (pantothenate) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: COAB, NM_024664, NP_078940, PPCS_HUMAN, Q3KQT2, Q9HAB8
UCSC ID: uc001chl.3
RefSeq Accession: NM_024664
Protein: Q9HAB8 (aka PPCS_HUMAN)
CCDS: CCDS41311.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_024664.2
exon count: 3CDS single in 3' UTR: no RNA size: 1489
ORF size: 936CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2072.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.