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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PPCS Gene

protein-coding GIFtS: 56
GCID: GC01P042921

Phosphopantothenoylcysteine Synthetase

5 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 posterior polar cataract, and peritoneal carcinoma, and among its related super-pathways are Vitamin B5 (pantothenate) metabolism and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_032977.9 NC_018912.2

Regulatory elements:

SABiosciences 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 plasmid: PPCS promoter sequence

Search SABiosciences Chromatin IP Primers for PPCS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9HAB8

PPCS Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001070915.1 NP_078940.2

ENSEMBL proteins:

ENSP00000361643 ENSP00000361641 ENSP00000361642 ENSP00000361637 ENSP00000389893

Reactome Protein details: Q9HAB8
Human Recombinant Protein Products for PPCS:

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	Novus Biologicals PPCS Proteins
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for PPCS
	Cloud-Clone Corp. Proteins for PPCS

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

PPCS for ontologies About GeneDecksing

PPCS Antibody Products:

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	Cloud-Clone Corp. ELISAs for PPCS Cloud-Clone Corp. CLIAs for PPCS

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

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

PPCS for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004632	phosphopantothenate--cysteine ligase activity	TAS	--

PPCS for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for PPCS:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for PPCS

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PPCS

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPCS

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPCS

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PPCS
		8/10 QIAGEN miScript miRNA 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 plasmid: PPCS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PPCS
		Search LifeMap BioReagents cell lines for PPCS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPCS

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for PPCS About

See pathways by source

SuperPath

Contained pathways About

Coenzyme A biosynthesis

	Vitamin B5 (pantothenate) metabolism	0.73			Pantothenate and CoA biosynthesis	0.40
	Coenzyme A biosynthesis	0.73			coenzyme A biosynthesis	0.38

Metabolism

Metabolism

0.40

Metabolic pathways

0.40

Metabolism of vitamins and cofactors

Metabolism of water-soluble vitamins and cofactors

1.00

Metabolism of vitamins and cofactors

1.00

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for PPCS

coenzyme A biosynthesis

5 Reactome Pathways for PPCS

	Coenzyme A biosynthesis
	Metabolism
	Metabolism of vitamins and cofactors
	Vitamin B5 (pantothenate) metabolism
	Metabolism of water-soluble vitamins and cofactors

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

PPCS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PPCS

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/24 Interacting proteins for PPCS (Q9HAB8³ ENSP00000361642⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AMPD2	Q01433³	I2D: score=1
ATAD2	Q6PL18³	I2D: score=1
CTPS1	P17812³	I2D: score=1
GGPS1	O95749³	I2D: score=1
GMPS	P49915³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006766	vitamin metabolic process	TAS	--
GO:0006767	water-soluble vitamin metabolic process	TAS	--
GO:0009108	coenzyme biosynthetic process	TAS	--
GO:0015937	coenzyme A biosynthetic process	IEA	--
GO:0015939	pantothenate metabolic process	TAS	--

PPCS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PPCS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PPCS

9 HMDB Compounds for PPCS About this table

Compound	Synonyms	CAS #	PubMed Ids
4-Phosphopantothenoylcysteine	Pantothenoylcysteine 4'-phosphate (see all 11)	7196-09-0	--
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Cytidine monophosphate	5'-CMP (see all 14)	63-37-6	--
Cytidine triphosphate	cytidine 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 acid	acide 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)

Search CenterWatch for drugs/clinical trials and news about PPCS

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PPCS gene (2 alternative transcripts):

NM_001077447.1 NM_024664.2

Unigene Cluster for PPCS:

Phosphopantothenoylcysteine synthetase

Hs.706662 [show with all ESTs]

Unigene Representative Sequence: BC062586

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 Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PPCS
		8/10 QIAGEN miScript miRNA 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 plasmid: PPCS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PPCS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PPCS

Additional mRNA sequence:

AK021900.1 BC012383.1 BC062586.1 BC104938.1 BC106064.1 BC112015.1

19 DOTS entries:

DT.65287806 DT.91719906 DT.121458404 DT.111582 DT.100788612 DT.100788611 DT.121458442 DT.121458355

DT.92440778 DT.100801277 DT.121458384 DT.100705813 DT.121458280 DT.75121871 DT.91739243 DT.102821075

DT.309714 DT.455445 DT.92440781

24/289 AceView cDNA sequences (see all 289):

BX640642 AA173459 AI281162 BQ430049 AA916957 CA429995 BM314183 BI906474

AI681821 CB853643 BM923950 BI334597 BQ015988 AL832217 BQ212766 CA424850

CB529291 CK821283 BM714429 BM675220 BM922732 CR606199 AI916431 CA396665

GeneLoc Exon Structure

5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PPCS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGGATTAAAA

About this image

See PPCS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PPCS

SOURCE GeneReport for Unigene cluster: Hs.706662

SABiosciences Custom PCR Arrays for PPCS

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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPCS gene from 9/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Ppcs^{1 , 5}	phosphopantothenoylcysteine synthetase^{1, 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	LOC100859789¹	phosphopantothenate--cysteine ligase-like	67.14(n) 67.84(a)	100859789 XM_003642536.1 XP_003642584.1
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_169848.2 NP_732401.1
worm (Caenorhabditis elegans)	Secernentea	Y71H2AM.6¹	Protein Y71H2AM.6	49.2(n) 45.2(a)	175394 NM_065215.3 NP_497616.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CAB2(YIL083C)⁴ CAB2¹	Probable phosphopantothenoylcysteine synthetase (PPCS), more⁴ Cab2p¹	46.77(n)¹ 43.35(a)¹	9(204653-203556)⁴ 854726^{1, 4} NP_012183.2¹ NP_012183.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G02080¹	phosphopantothenate--cysteine ligase 2	50.48(n) 48.16(a)	831921 NM_120286.1 NP_195828.1
rice (Oryza sativa)	Liliopsida	Os02g0575200¹	hypothetical protein	52.3(n) 46.13(a)	4329749 NM_001053746.1 NP_001047211.1

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)
About This Section

Paralogs for PPCS gene

PPCS for paralogs About GeneDecksing

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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79990645^1,2	C,F	--	42924003(+)	`GGTAGG/ATGTGG`	2	--	int¹		1		NA	120
rs185383319^1,2		--	42924033(+)	`GAACCC/TTCAGG`	2	--	int¹		0	--	--	--	--
rs115148849^1,2	F	--	42924046(+)	`TTCTTA/TGTCAT`	2	--	int¹		1		WA	118
rs145862069^1,2		--	42924052(+)	`GTCATG/TTATTG`	2	--	int¹		0	--	--	--	--
rs138694298^1,2		--	42924226(+)	`AATAAA/GTAAGT`	2	--	int¹		0	--	--	--	--
rs149239198^1,2		--	42924262(+)	`ATAAAG/TGCTAA`	2	--	int¹		0	--	--	--	--
rs79526021^1,2	C,F	--	42924306(+)	`GATCCC/TTATCA`	2	--	int¹		1		NA	120
rs189807087^1,2		--	42924334(+)	`TAGGGC/TAAAGT`	2	--	int¹		0	--	--	--	--
rs143837054^1,2		--	42924395(+)	`TTTATC/TCCACA`	2	--	int¹		0	--	--	--	--
rs182099140^1,2		--	42924433(+)	`AAGCAA/GCTGAA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PPCS (42921788 - 42939056 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PPCS: About this table

Variant ID	Type	Subtype	PubMed ID
nsv870704	CNV	Gain	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609853 OMIM disorders: --

5 diseases for PPCS: About MalaCards

posterior polar cataract peritoneal carcinoma pneumothorax peritonitis

cataract

PPCS for disorders About GeneDecksing

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 9 sources (see all 15):
(articles sorted by number of sources associating them with PPCS)

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Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. (PubMed id 11923312)^{1, 2, 3} Daugherty M....Osterman A. (2002)
Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. (PubMed id 12906824)^{1, 2, 9} Manoj N.... Ealick S.E. (2003)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Kinetic characterization of human phosphopantothenoyl cysteine synthetase. (PubMed id 19683078)^{1, 9} Yao J. and Dotson G.D. (2009)
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. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PPCS	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PPCS	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PPCS gene
(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:
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