• Gene id: 79717

Gene Summary

• Gene Symbol: PPCS   Gene   UCSC   Ensembl
• Aliases: CMD2C
• Gene name: phosphopantothenoylcysteine synthetase
• Alternate names: phosphopantothenate--cysteine ligase, PPC synthetase,
• Gene location: 1p34.2 (42456340: 42473380)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 609853

Protein Summary

• Protein general information: Q9HAB8  
  • Name: Phosphopantothenate cysteine ligase (EC 6.3.2.51) (Phosphopantothenoylcysteine synthetase) (PPC synthetase)
  • Length: 311  
  • Mass: 34005
• Sequence:

  MAEMDPVAEFPQPPGAARWAEVMARFAARLGAQGRRVVLVTSGGTKVPLEARPVRFLDNFSSGRRGATSAEAFLA
  AGYGVLFLYRARSAFPYAHRFPPQTWLSALRPSGPALSGLLSLEAEENALPGFAEALRSYQEAAAAGTFLAVEFT
  TLADYLHLLQAAAQALNPLGPSAMFYLAAAVSDFYVPVSEMPEHKIQSSGGPLQITMKMVPKLLSPLVKDWAPKA
  FIISFKLETDPAIVINRARKALEIYQHQVVVANILESRQSFVFIVTKDSETKLLLSEEEIEKGVEIEEKIVDNLQ
  SRHTAFIGDRN

• Structural information:
  • Interpro: IPR035929  IPR007085  
  • PDB: 1P9O
  • PDBsum: 1P9O
  • STRING: ENSP00000361642
• Other Databases: GeneCards:  PPCS  Malacards:  PPCS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IMP	molecular function
GO:0015937	coenzyme A biosynthetic process	IMP	biological process
GO:0003015	heart process	IMP	biological process
GO:0006085	acetyl-CoA biosynthetic process	IMP	biological process
GO:0004632	phosphopantothenate--cysteine ligase activity	IMP	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IDA	biological process
GO:0004632	phosphopantothenate--cysteine ligase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)