Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79717
Gene name	Phosphopantothenoylcysteine synthetase
Gene symbol	PPCS
Synonyms (NCBI Gene)	CMD2C
Chromosome	1
Chromosome location	1p34.2
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 (D

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019904	hsa-miR-375	Microarray	20215506
MIRT028370	hsa-miR-32-5p	Sequencing	20371350
MIRT044998	hsa-miR-186-5p	CLASH	23622248
MIRT726898	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726897	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028370	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT1252280	hsa-miR-24	CLIP-seq
MIRT1252281	hsa-miR-3065-3p	CLIP-seq
MIRT1252282	hsa-miR-3685	CLIP-seq
MIRT1252283	hsa-miR-384	CLIP-seq
MIRT1252284	hsa-miR-4284	CLIP-seq
MIRT1252285	hsa-miR-4307	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT1252287	hsa-miR-664	CLIP-seq
MIRT1252288	hsa-miR-137	CLIP-seq
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT1252280	hsa-miR-24	CLIP-seq
MIRT1252289	hsa-miR-25	CLIP-seq
MIRT1252290	hsa-miR-32	CLIP-seq
MIRT1252291	hsa-miR-363	CLIP-seq
MIRT1252292	hsa-miR-367	CLIP-seq
MIRT1252284	hsa-miR-4284	CLIP-seq
MIRT1252285	hsa-miR-4307	CLIP-seq
MIRT1252293	hsa-miR-4325	CLIP-seq
MIRT1252294	hsa-miR-4789-5p	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252287	hsa-miR-664	CLIP-seq
MIRT1252296	hsa-miR-92a	CLIP-seq
MIRT1252297	hsa-miR-92b	CLIP-seq
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT2074306	hsa-miR-197	CLIP-seq
MIRT2074307	hsa-miR-3140-3p	CLIP-seq
MIRT2074308	hsa-miR-3674	CLIP-seq
MIRT2074309	hsa-miR-3675-3p	CLIP-seq
MIRT2074310	hsa-miR-4520a-3p	CLIP-seq
MIRT2074311	hsa-miR-4520b-3p	CLIP-seq
MIRT2074312	hsa-miR-4529-3p	CLIP-seq
MIRT2074313	hsa-miR-4703-3p	CLIP-seq
MIRT2074314	hsa-miR-5096	CLIP-seq
MIRT2074315	hsa-miR-592	CLIP-seq
MIRT2074316	hsa-miR-597	CLIP-seq
MIRT2074317	hsa-miR-599	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252288	hsa-miR-137	CLIP-seq
MIRT2074306	hsa-miR-197	CLIP-seq
MIRT1252289	hsa-miR-25	CLIP-seq
MIRT2074307	hsa-miR-3140-3p	CLIP-seq
MIRT1252290	hsa-miR-32	CLIP-seq
MIRT1252291	hsa-miR-363	CLIP-seq
MIRT1252292	hsa-miR-367	CLIP-seq
MIRT2074308	hsa-miR-3674	CLIP-seq
MIRT1252293	hsa-miR-4325	CLIP-seq
MIRT2074310	hsa-miR-4520a-3p	CLIP-seq
MIRT2074311	hsa-miR-4520b-3p	CLIP-seq
MIRT2074312	hsa-miR-4529-3p	CLIP-seq
MIRT2074313	hsa-miR-4703-3p	CLIP-seq
MIRT1252294	hsa-miR-4789-5p	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2074314	hsa-miR-5096	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252296	hsa-miR-92a	CLIP-seq
MIRT1252297	hsa-miR-92b	CLIP-seq
MIRT2598010	hsa-miR-125a-3p	CLIP-seq
MIRT2598011	hsa-miR-132	CLIP-seq
MIRT2598012	hsa-miR-142-5p	CLIP-seq
MIRT2598013	hsa-miR-181a	CLIP-seq
MIRT2598014	hsa-miR-181b	CLIP-seq
MIRT2598015	hsa-miR-181c	CLIP-seq
MIRT2598016	hsa-miR-181d	CLIP-seq
MIRT2598017	hsa-miR-1972	CLIP-seq
MIRT2598018	hsa-miR-212	CLIP-seq
MIRT2598019	hsa-miR-3074-3p	CLIP-seq
MIRT2598020	hsa-miR-3168	CLIP-seq
MIRT2598021	hsa-miR-324-5p	CLIP-seq
MIRT2598022	hsa-miR-330-3p	CLIP-seq
MIRT2598023	hsa-miR-340	CLIP-seq
MIRT2598024	hsa-miR-3662	CLIP-seq
MIRT2598025	hsa-miR-376c	CLIP-seq
MIRT2598026	hsa-miR-3913-3p	CLIP-seq
MIRT2598027	hsa-miR-3934	CLIP-seq
MIRT2598028	hsa-miR-410	CLIP-seq
MIRT2598029	hsa-miR-4255	CLIP-seq
MIRT2598030	hsa-miR-4262	CLIP-seq
MIRT2598031	hsa-miR-4272	CLIP-seq
MIRT2598032	hsa-miR-4277	CLIP-seq
MIRT2598033	hsa-miR-4422	CLIP-seq
MIRT2598034	hsa-miR-4426	CLIP-seq
MIRT2598035	hsa-miR-4477b	CLIP-seq
MIRT2598036	hsa-miR-4647	CLIP-seq
MIRT2598037	hsa-miR-4650-5p	CLIP-seq
MIRT2598038	hsa-miR-4662b	CLIP-seq
MIRT2598039	hsa-miR-4695-3p	CLIP-seq
MIRT2598040	hsa-miR-4698	CLIP-seq
MIRT2598041	hsa-miR-4778-3p	CLIP-seq
MIRT2598042	hsa-miR-489	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2598043	hsa-miR-501-5p	CLIP-seq
MIRT2598044	hsa-miR-515-5p	CLIP-seq
MIRT2598045	hsa-miR-548m	CLIP-seq
MIRT2598046	hsa-miR-591	CLIP-seq
MIRT2598047	hsa-miR-607	CLIP-seq
MIRT2598048	hsa-miR-764	CLIP-seq
MIRT2598011	hsa-miR-132	CLIP-seq
MIRT2598012	hsa-miR-142-5p	CLIP-seq
MIRT2598013	hsa-miR-181a	CLIP-seq
MIRT2598014	hsa-miR-181b	CLIP-seq
MIRT2598015	hsa-miR-181c	CLIP-seq
MIRT2598016	hsa-miR-181d	CLIP-seq
MIRT2598017	hsa-miR-1972	CLIP-seq
MIRT2598018	hsa-miR-212	CLIP-seq
MIRT2598019	hsa-miR-3074-3p	CLIP-seq
MIRT2598020	hsa-miR-3168	CLIP-seq
MIRT2598021	hsa-miR-324-5p	CLIP-seq
MIRT2598022	hsa-miR-330-3p	CLIP-seq
MIRT2598023	hsa-miR-340	CLIP-seq
MIRT2598024	hsa-miR-3662	CLIP-seq
MIRT2598025	hsa-miR-376c	CLIP-seq
MIRT2598026	hsa-miR-3913-3p	CLIP-seq
MIRT2598028	hsa-miR-410	CLIP-seq
MIRT2598029	hsa-miR-4255	CLIP-seq
MIRT2598030	hsa-miR-4262	CLIP-seq
MIRT2598031	hsa-miR-4272	CLIP-seq
MIRT2598032	hsa-miR-4277	CLIP-seq
MIRT2598033	hsa-miR-4422	CLIP-seq
MIRT2598034	hsa-miR-4426	CLIP-seq
MIRT2598035	hsa-miR-4477b	CLIP-seq
MIRT2598036	hsa-miR-4647	CLIP-seq
MIRT2598037	hsa-miR-4650-5p	CLIP-seq
MIRT2598038	hsa-miR-4662b	CLIP-seq
MIRT2598039	hsa-miR-4695-3p	CLIP-seq
MIRT2598040	hsa-miR-4698	CLIP-seq
MIRT2598041	hsa-miR-4778-3p	CLIP-seq
MIRT2598042	hsa-miR-489	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2598043	hsa-miR-501-5p	CLIP-seq
MIRT2598044	hsa-miR-515-5p	CLIP-seq
MIRT2598045	hsa-miR-548m	CLIP-seq
MIRT2598046	hsa-miR-591	CLIP-seq
MIRT2598047	hsa-miR-607	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003015	Process	Heart process	IMP	29754768
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IBA
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IDA	11923312
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IEA
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IMP	29754768
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006085	Process	Acetyl-CoA biosynthetic process	IMP	29754768
GO:0015937	Process	Coenzyme A biosynthetic process	IBA
GO:0015937	Process	Coenzyme A biosynthetic process	IDA	11923312
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IMP	29754768
GO:0016874	Function	Ligase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IMP	29754768

MIM	HGNC	e!Ensembl
609853	25686	ENSG00000127125

Q9HAB8

Protein name

Phosphopantothenate--cysteine ligase (EC 6.3.2.51) (Phosphopantothenoylcysteine synthetase) (PPC synthetase)

Protein function

Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for A

PDB

1P9O , 7EDZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04127	DFP	32 → 96	DNA / pantothenate metabolism flavoprotein	Family
PF04127	DFP	135 → 279	DNA / pantothenate metabolism flavoprotein	Family

Sequence

MAEMDPVAEFPQPPGAARWAEVMARFAARLGAQGRRVVLVTSGGTKVPLEARPVRFLDNF
SSGRRGATSAEAFLAAGYGVLFLYRARSAFPYAHRFPPQTWLSALRPSGPALSGLLSLEA
EENALPGFAEALRSYQEAAAAGTFLAVEFTTLADYLHLLQAAAQALNPLGPSAMFYLAAA
VSDFYVPVSEMPEHKIQSSGGPLQITMKMVPKLLSPLVKDWAPKAFIISFKLETDPAIVI
NRARKALEIYQHQVVVANILESRQSFVFIVTKDSETKLLLSEEEIEKGVEIEEKIVDNLQ
SRHTAFIGDRN

Sequence length

311

Interactions

View interactions

	KEGG		Reactome
	Pantothenate and CoA biosynthesis Metabolic pathways Biosynthesis of cofactors		Coenzyme A biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, dilated, 2c	Likely pathogenic; Pathogenic	rs912203499, rs1557778277, rs1557776329	RCV002227795 RCV000721929 RCV000721930	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPCS-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35397396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29754768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 2C	Cardiomyopathy	UNIPROT_DG	29754768		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOMYOPATHY, DILATED, 2C	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOMYOPATHY, DILATED, 2C	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Citrullinemia	Citrullinemia	Pubtator	35397396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	29754768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35397396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PPCS (phosphopantothenoylcysteine synthetase)