PPCS - phosphopantothenoylcysteine synthetase Gene

Homo sapiens

Also known as CMD2C

Gene ID: 79717 | Gene type: protein coding

About PPCS

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,456,341-42,473,417 (from NCBI)

This gene has 8 transcripts (splice variants), 193 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.6), thyroid (RPKM 13.4) and 25 other tissues.

Summary

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]

PPCS Products(8)

mRNA	Protein	Name
NM_001077447.3	NP_001070915.1	phosphopantothenate--cysteine ligase isoform b
NM_001287506.1	NP_001274435.1	phosphopantothenate--cysteine ligase isoform b
NM_001287507.1	NP_001274436.1	phosphopantothenate--cysteine ligase isoform c
NM_001287508.2	NP_001274437.1	phosphopantothenate--cysteine ligase isoform b
NM_001287509.2	NP_001274438.1	phosphopantothenate--cysteine ligase isoform b
NM_001287510.2	NP_001274439.1	phosphopantothenate--cysteine ligase isoform b
NM_001287511.2	NP_001274440.1	phosphopantothenate--cysteine ligase isoform d
NM_024664.4	NP_078940.2	phosphopantothenate--cysteine ligase isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables phosphopantothenate--cysteine ligase activity	IDA IDA: Inferred from direct assay	11923312	GOA
enables phosphopantothenate--cysteine ligase activity	IMP IMP: Inferred from mutant phenotype	29754768	GOA
enables protein homodimerization activity	IMP IMP: Inferred from mutant phenotype	29754768	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in acetyl-CoA biosynthetic process	IMP IMP: Inferred from mutant phenotype	29754768	GOA
involved in coenzyme A biosynthetic process	IDA IDA: Inferred from direct assay	11923312	GOA
involved in coenzyme A biosynthetic process	IMP IMP: Inferred from mutant phenotype	29754768	GOA
involved in heart process	IMP IMP: Inferred from mutant phenotype	29754768	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPCS Protein Structure

DFP

0
100
200
311 a.a.

Protein Preferred Names

Protein Names

phosphopantothenate--cysteine ligase

PPC synthetase

PPCS Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PPCS	Q9HAB8	PDZRN3	Homo sapiens	Q9UPQ7	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	LACRT	Homo sapiens	Q9GZZ8	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	SCGB2A1	Homo sapiens	O75556	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	BPIFB1	Homo sapiens	Q8TDL5	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	HP	Homo sapiens	P00738	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	LTF	Homo sapiens	P02788	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	DMBT1	Homo sapiens	Q9UGM3	Anti Tag CoIP	33961781
Intra	PPCS	Q9HAB8	PPCS	Homo sapiens	Q9HAB8	Y2H Prey Pooling	32296183
Intra	PPCS	Q9HAB8	a0a6l8p747_bacan	Bacillus anthracis	A0A6L8P747	Y2H Pooling	20711500
Intra	PPCS	Q9HAB8	PPCS	Homo sapiens	Q9HAB8	Validated Y2H	32296183
Intra	PPCS	Q9HAB8	PPCS	Homo sapiens	Q9HAB8	Y2H Array	32296183
Intra	PPCS	Q9HAB8	IGHA2	Homo sapiens	P01877	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

PPCS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83432	PPCS Antibody (YA3177)	WB, IP	Human

Related Diseases

Diseases

Alias

Cardiomyopathy, Dilated, 2c

CMD2C	Dilated Cardiomyopathy 2c
Cardiomyopathy, Dilated 2c

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Bladder Tuberculosis

Tuberculous Cystitis

Tuberculosis Of Bladder

Periosteal Chondrosarcoma

Juxtacortical Chondrosarcoma

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Urethral Calculus

Calculus In Urethra	Urethral Stone
Urethrolithiasis	Urethra Calculi Impaction
Urethra Calculus Impaction	Urethra Stone
Calculous Urethritis	Urethral Calculi Impaction
Urethral Calculus Impaction

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration	Pkan
NBIA1	Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome	Pigmentary Pallidal Degeneration
Neuroaxonal Dystrophy, Late Infantile	Neurodegeneration With Brain Iron Accumulation Type 1
Classic Pantothenate Kinase-Associated Neurodegeneration	Pkan Neuroaxonal Dystrophy, Juvenile-Onset
Brain Iron Accumulation Type I Syndrome	Nbia
Neurodegeneration With Brain Iron Accumulation	Nbia1, Classic Form
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form	Pkan, Classic Form
Atypical Pantothenate Kinase-Associated Neurodegeneration	Nbia1, Atypical Form
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form	Pkan, Atypical Form
Hss	Pkan Neuroaxonal Dystrophy Juvenile-Onset
Neurodegeneration, With Brain Iron Accumulation, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-109105	Tepilamide fumarate		99.77%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126530	PPC-NB		99.90%	Unkown
HY-144691	PP-C8	Inhibitor	99.99%	Unkown
HY-W071006	PPC-NHS ester		98.32%	Unkown
HY-117843	Ppc-1		/	Unkown
HY-RS10935	PPCS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPCS	MGD	MGI:1915237
Bos taurus	PPCS	VGNC	VGNC:33189
Felis catus	PPCS	VGNC	VGNC:64307
Canis familiaris	PPCS	VGNC	VGNC:44841
Rattus norvegicus	PPCS	RGD	RGD:1311399
Macaca mulatta	PPCS	VGNC	VGNC:76112

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