PDSS2

Protein identityUniProt · HPA

UniProt accession

Q86YH6

Gene

PDSS2

Ensembl

ENSG00000164494

Chromosome

6

Canonical length

399 aa

Protein class

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

Subcellular location

Cytosol

OverviewNCBI Gene

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

399 residues, UniProt reviewed canonical sequence.

>Q86YH6|PDSS2
     1  MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN QVVSEAEKIV
    61  GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG LVHDSWNSLQ LRGLVVLLIS
   121  KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE ITELIHIALL VHRGIVNLNE LQSSDGPLKD
   181  MQFGNKIAIL SGDFLLANAC NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD
   241  DIGISTWKEQ TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF
   301  IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE RIKAGKGVTS
   361  AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDSS2 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

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDSS2.

Disease | AllUniProt

Conditions PDSS2 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 3 (COQ10D3) MIM:614652

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 283 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Coenzyme Q10 deficiency, primary, 3

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)

1.13

gnomAD pLI

0

gnomAD missense Z

0.47

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cerebellum development
• isoprenoid biosynthetic process
• regulation of body fluid levels
• ubiquinone biosynthetic process

Molecular functions

• all-trans-decaprenyl-diphosphate synthase activity
• all-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity
• prenyltransferase activity
• protein heterodimerization activity

Cellular components

• cytosol
• heterotetrameric polyprenyl diphosphate synthase complex
• mitochondrial matrix
• mitochondrion
• polyprenyl diphosphate synthase complex
• ubiquinone biosynthesis complex

Protein domainsUniProt · Pfam · InterPro

• Polyprenyl synthetase-like
• Isoprenoid synthase domain superfamily
• Polyprenyl synthetase

KeywordsUniProt

• Isoprene biosynthesis
• Lipid metabolism
• Mitochondrion
• Primary mitochondrial disease
• Transferase
• Ubiquinone biosynthesis