PPCS

Protein identityUniProt · HPA

UniProt accession

Q9HAB8

Gene

PPCS

Ensembl

ENSG00000127125

Chromosome

1

Canonical length

311 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

311 residues, UniProt reviewed canonical sequence.

>Q9HAB8|PPCS
     1  MAEMDPVAEF PQPPGAARWA EVMARFAARL GAQGRRVVLV TSGGTKVPLE ARPVRFLDNF
    61  SSGRRGATSA EAFLAAGYGV LFLYRARSAF PYAHRFPPQT WLSALRPSGP ALSGLLSLEA
   121  EENALPGFAE ALRSYQEAAA AGTFLAVEFT TLADYLHLLQ AAAQALNPLG PSAMFYLAAA
   181  VSDFYVPVSE MPEHKIQSSG GPLQITMKMV PKLLSPLVKD WAPKAFIISF KLETDPAIVI
   241  NRARKALEIY QHQVVVANIL ESRQSFVFIV TKDSETKLLL SEEEIEKGVE IEEKIVDNLQ
   301  SRHTAFIGDR N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPCS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

93 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPCS.

Disease | AllUniProt

Conditions PPCS is implicated in, by any mechanism.

• Cardiomyopathy, dilated, 2C (CMD2C) MIM:618189

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 279 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cardiomyopathy, dilated, 2c

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.97

gnomAD pLI

0.01

gnomAD missense Z

0.8

DepMap mean gene effect

-0.28

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acetyl-CoA biosynthetic process
• coenzyme A biosynthetic process
• heart process

Molecular functions

• ATP binding
• identical protein binding
• protein homodimerization activity
• phosphopantothenate--cysteine ligase activity

Cellular components

• cytoplasm
• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• DNA/pantothenate metabolism flavoprotein, C-terminal
• CoaB-like superfamily
• DNA/pantothenate metabolism flavoprotein C-terminal domain

KeywordsUniProt

• Acetylation
• ATP-binding
• Cardiomyopathy
• Ligase
• Nucleotide-binding