Human Gene PPCDC (uc002azo.3)
  Description: Homo sapiens phosphopantothenoylcysteine decarboxylase (PPCDC), mRNA.
RefSeq Summary (NM_021823): Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr15:75,315,927-75,343,067 Size: 27,141 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr15:75,320,660-75,341,576 Size: 20,917 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:75,315,927-75,343,067)mRNA (may differ from genome)Protein (204 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COAC_HUMAN
DESCRIPTION: RecName: Full=Phosphopantothenoylcysteine decarboxylase; Short=PPC-DC; EC=4.1.1.36; AltName: Full=CoaC;
FUNCTION: Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4'- phosphopantotheine.
CATALYTIC ACTIVITY: N-((R)-4'-phosphopantothenoyl)-L-cysteine = pantotheine 4'-phosphate + CO(2).
COFACTOR: Binds 1 FMN per subunit.
PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 3/5.
SUBUNIT: Homotrimer (Potential).
SIMILARITY: Belongs to the HFCD (homooligomeric flavin containing Cys decarboxylase) superfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PPCDC
CDC HuGE Published Literature: PPCDC
Positive Disease Associations: Body Height , Caffeine
Related Studies:
  1. Body Height
    , , . [PubMed 0]
  2. Caffeine
    Marilyn C Cornelis et al. PLoS genetics 2011, Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption., PLoS genetics. [PubMed 21490707]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 6.63 RPKM in Whole Blood
Total median expression: 135.28 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.20113-0.320 Picture PostScript Text
3' UTR -585.761491-0.393 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
IPR003382 - Flavoprotein

Pfam Domains:
PF02441 - Flavoprotein

SCOP Domains:
52507 - Homo-oligomeric flavin-containing Cys decarboxylases, HFCD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1QZU - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96CD2
FrontTopSide
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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004633 phosphopantothenoylcysteine decarboxylase activity
GO:0005515 protein binding
GO:0016829 lyase activity
GO:0016831 carboxy-lyase activity
GO:0042802 identical protein binding

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

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK027491 - Homo sapiens cDNA FLJ14585 fis, clone NT2RM4001611, weakly similar to SIS2 PROTEIN.
AY358848 - Homo sapiens clone DNA174136 MDS018 (UNQ9365) mRNA, complete cds.
JD389722 - Sequence 370746 from Patent EP1572962.
BC014409 - Homo sapiens phosphopantothenoylcysteine decarboxylase, mRNA (cDNA clone MGC:19897 IMAGE:4647763), complete cds.
JD443058 - Sequence 424082 from Patent EP1572962.
DQ892209 - Synthetic construct clone IMAGE:100004839; FLH184079.01X; RZPDo839B12144D phosphopantothenoylcysteine decarboxylase (PPCDC) gene, encodes complete protein.
DQ895405 - Synthetic construct Homo sapiens clone IMAGE:100009865; FLH184075.01L; RZPDo839B12143D phosphopantothenoylcysteine decarboxylase (PPCDC) gene, encodes complete protein.
KJ899401 - Synthetic construct Homo sapiens clone ccsbBroadEn_08795 PPCDC gene, encodes complete protein.
AF182419 - Homo sapiens MDS018 (MDS018) mRNA, complete cds.
JD376144 - Sequence 357168 from Patent EP1572962.
JD347087 - Sequence 328111 from Patent EP1572962.
JD348549 - Sequence 329573 from Patent EP1572962.
JD546848 - Sequence 527872 from Patent EP1572962.
JD250676 - Sequence 231700 from Patent EP1572962.
JD423768 - Sequence 404792 from Patent EP1572962.
JD457627 - Sequence 438651 from Patent EP1572962.
JD158392 - Sequence 139416 from Patent EP1572962.
JD274216 - Sequence 255240 from Patent EP1572962.
JD303392 - Sequence 284416 from Patent EP1572962.
JD364190 - Sequence 345214 from Patent EP1572962.
JD115068 - Sequence 96092 from Patent EP1572962.
JD479466 - Sequence 460490 from Patent EP1572962.
BC005877 - Homo sapiens phosphopantothenoylcysteine decarboxylase, mRNA (cDNA clone IMAGE:3029247).
JD502560 - Sequence 483584 from Patent EP1572962.
JD041204 - Sequence 22228 from Patent EP1572962.
JD320949 - Sequence 301973 from Patent EP1572962.
JD387869 - Sequence 368893 from Patent EP1572962.
JD515428 - Sequence 496452 from Patent EP1572962.
JD220827 - Sequence 201851 from Patent EP1572962.
JD488734 - Sequence 469758 from Patent EP1572962.
JD508470 - Sequence 489494 from Patent EP1572962.
JD137499 - Sequence 118523 from Patent EP1572962.
JD131749 - Sequence 112773 from Patent EP1572962.
JD241816 - Sequence 222840 from Patent EP1572962.
JD354253 - Sequence 335277 from Patent EP1572962.
JD133201 - Sequence 114225 from Patent EP1572962.
JD518461 - Sequence 499485 from Patent EP1572962.
JD066390 - Sequence 47414 from Patent EP1572962.
JD436947 - Sequence 417971 from Patent EP1572962.
JD383122 - Sequence 364146 from Patent EP1572962.
JD317255 - Sequence 298279 from Patent EP1572962.
JD101555 - Sequence 82579 from Patent EP1572962.

-  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 Q96CD2 (Reactome details) participates in the following event(s):

R-HSA-196840 3xPPCDC:3FMN decarboxylates PPC
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: COAC, COAC_HUMAN, MDS018, NM_021823, NP_068595, Q96CD2, Q96SX0, Q9HC17, UNQ9365/PRO34154
UCSC ID: uc002azo.3
RefSeq Accession: NM_021823
Protein: Q96CD2 (aka COAC_HUMAN)
CCDS: CCDS10275.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021823.3
exon count: 6CDS single in 3' UTR: no RNA size: 2268
ORF size: 615CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1430.00frame shift in genome: no % Coverage: 97.84
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.