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Set Analyses:

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PPCS Gene

protein-coding GIFtS: 54
GCID: GC01P042921

Phosphopantothenoylcysteine Synthetase

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pneumothorax. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:

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 Chromatin IP Primers for PPCS

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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:

Ubiquitination² at Lys224

Modification sites at PhosphoSitePlus

See PPCS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (8 alternative transcripts):

NP_001070915.1 NP_001274435.1 NP_001274436.1 NP_001274437.1 NP_001274438.1 NP_001274439.1 NP_001274440.1 NP_078940.2

ENSEMBL proteins:

ENSP00000361643 ENSP00000361641 ENSP00000361642 ENSP00000361637 ENSP00000389893

Reactome Protein details: Q9HAB8

PPCS Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for PPCS
	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

PPCS Antibody Products:

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	Novus Biologicals PPCS Antibodies
	Abcam antibodies for PPCS
	Cloud-Clone Corp. Antibodies for PPCS
	ThermoFisher Antibodies for PPCS
	LSBio Antibodies in human, mouse, rat for PPCS

PPCS Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for PPCS
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PPCS
	Browse Enzo Life Sciences for kits & assays
	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)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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: 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: Let us create your new Knockout/Knockin mouse model for PPCS

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:		miRTarBase miRNAs that target PPCS: hsa-mir-186-5p (MIRT044998), hsa-mir-32-5p (MIRT028370), hsa-mir-375 (MIRT019904)

		Block miRNA regulation of human, mouse, rat PPCS using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for PPCS
		Predesigned siRNA for gene silencing in human, mouse, rat PPCS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PPCS

Clone Products:		OriGene clones in human, mouse for PPCS (see all 13) OriGene ORF clones in mouse, rat for PPCS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PPCS (NM_024664)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPCS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PPCS
		Browse ESI BIO Cell Lines and PureStem Progenitors for PPCS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPCS

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
nucleus	2
extracellular	1
mitochondrion	1
peroxisome	1

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Gene Ontology (GO): 1 cellular component term: About this table

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

PPCS for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PPCS About

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

Defective BTD causes biotidinase deficiency

Defective BTD causes biotidinase deficiency	1.00	Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC	1.00
Defective AMN causes hereditary megaloblastic anemia 1	1.00	Defective MUT causes methylmalonic aciduria mut type	1.00
Defective MMAA causes methylmalonic aciduria type cblA	1.00	Defects in cobalamin (B12) metabolism	1.00
Defective CD320 causes methylmalonic aciduria	1.00	Defects in vitamin and cofactor metabolism	1.00

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Pantothenate and CoA biosynthesis

Pantothenate and CoA biosynthesis

Disease

Disease

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for PPCS

coenzyme A biosynthesis

1 Reactome Pathway for PPCS

Coenzyme A biosynthesis

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

    Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PPCS
Interactions:

  Search GeneGlobe Interaction Network for PPCS

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PPCS (Q9HAB8³ ENSP00000361642⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

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

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Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

PPCS for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PPCS gene (8 alternative transcripts):

NM_001077447.2 NM_001287506.1 NM_001287507.1 NM_001287508.1 NM_001287509.1 NM_001287510.1 NM_001287511.1 NM_024664.3

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:		Block miRNA regulation of human, mouse, rat PPCS using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for PPCS
		Predesigned siRNA for gene silencing in human, mouse, rat PPCS

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		GenScript: all cDNA clones in your preferred vector (see all 2): PPCS (NM_024664)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPCS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPCS

Primer Products:		OriGene qPCR primer pairs and template standards for PPCS OriGene qSTAR qPCR primer pairs in human, mouse for PPCS
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PPCS
		QuantiTect SYBR Green Assays in human, mouse, rat PPCS
		QuantiFast Probe-based Assays in human, mouse, rat PPCS

Selected AceView cDNA sequences (see all 289):

CB529281 BM831706 BF431850 AL832217 BM714429 CR595942 CR615199 CA429995

AA173459 AI917764 CB131138 AI025472 AI281162 BM314183 AI571556 BQ015988

CR606199 BX640642 AU119781 CB529291 AA503661 AI681821 BQ636866 BC062586

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

PPCS Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PPCS Protein Expression

Custom PCR Arrays for PPCS

Primer Products:		OriGene qPCR primer pairs and template standards for PPCS OriGene qSTAR qPCR primer pairs in human, mouse for PPCS
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PPCS
		QuantiTect SYBR Green Assays in human, mouse, rat PPCS
		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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for PPCS gene from Selected species (see all 22) 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	PPCS¹	phosphopantothenoylcysteine synthetase	67.64(n) 68.5(a)	100859789 XM_004947533.1 XP_004947590.1
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_169848.3 NP_732401.1
worm (Caenorhabditis elegans)	Secernentea	Y71H2AM.6¹	Y71H2AM.6	49.8(n) 46.96(a)	175394 NM_065215.4 NP_497616.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CAB2(YIL083C)⁴ CAB2¹	Probable phosphopantothenoylcysteine synthetase (PPCS), more⁴ CAB2¹	46.54(n)¹ 43.02(a)¹	9(204653-203556)⁴ 854726^{1, 4} NP_012183.2¹ NP_012183.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G02080¹	AT5G02080	50.34(n) 47.77(a)	831921 NM_120286.1 NP_195828.1
rice (Oryza sativa)	Liliopsida	Os08g0176100¹	Os08g0176100	51.23(n) 46.67(a)	4344795 NM_001067651.1 NP_001061116.1

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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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: --

6 diseases for PPCS:
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posterior polar cataract pneumothorax peritoneal carcinoma peritonitis

cataract malaria

PPCS for disorders About GeneDecksing

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(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 10 sources (see all 20):
(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. (J. Biol. Chem. 2002)
Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. (PubMed id 12906824)^{1, 2, 9} Manoj N.... Ealick S.E. (Structure 2003)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 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. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Kinetic characterization of human phosphopantothenoylcysteine synthetase. (PubMed id 19683078)^{1, 9} Yao J. and Dotson G.D. (Biochim. Biophys. Acta 2009)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
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. (Nat. Cell Biol. 2012)
Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)² Bienvenut W.V....Giglione C. (amp 2012)
N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)² Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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:
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