PDSS1

Protein identityUniProt · HPA

UniProt accession

Q5T2R2

Gene

PDSS1

Ensembl

ENSG00000148459

Chromosome

10

Canonical length

415 aa

Protein class

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 elongates 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. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

415 residues, UniProt reviewed canonical sequence.

>Q5T2R2|PDSS1
     1  MASRWWRWRR GCSWKPAARS PGPGSPGRAG PLGPSAAAEV RAQVHRRKGL DLSQIPYINL
    61  VKHLTSACPN VCRISRFHHT TPDSKTHSGE KYTDPFKLGW RDLKGLYEDI RKELLISTSE
   121  LKEMSEYYFD GKGKAFRPII VALMARACNI HHNNSRHVQA SQRAIALIAE MIHTASLVHD
   181  DVIDDASSRR GKHTVNKIWG EKKAVLAGDL ILSAASIALA RIGNTTVISI LTQVIEDLVR
   241  GEFLQLGSKE NENERFAHYL EKTFKKTASL IANSCKAVSV LGCPDPVVHE IAYQYGKNVG
   301  IAFQLIDDVL DFTSCSDQMG KPTSADLKLG LATGPVLFAC QQFPEMNAMI MRRFSLPGDV
   361  DRARQYVLQS DGVQQTTYLA QQYCHEAIRE ISKLRPSPER DALIQLSEIV LTRDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDSS1 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)

0.33

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDSS1.

Disease | AllUniProt

Conditions PDSS1 is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 2 (COQ10D2) MIM:614651

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 428 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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)

0.93

gnomAD pLI

0

gnomAD missense Z

1.32

DepMap mean gene effect

-0.32

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

• isoprenoid biosynthetic process
• ubiquinone biosynthetic process

Molecular functions

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

Cellular components

• 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, conserved site
• Polyprenyl synthetase

KeywordsUniProt

• Isoprene biosynthesis
• Lipid metabolism
• Magnesium
• Metal-binding
• Mitochondrion
• Primary mitochondrial disease
• Transferase
• Ubiquinone biosynthesis