PDSS1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PDSS1 |
| Official Name | decaprenyl diphosphate synthase subunit 1 [Source:HGNC Symbol;Acc:HGNC:17759] |
| Ensembl ID | ENSG00000148459 |
| Bio databases IDs | |
| Aliases | decaprenyl diphosphate synthase subunit 1, coenzyme Q1 homolog (yeast) |
| Synonyms | 2610203G20Rik, 2700031G06Rik, COQ1, COQ10D2, COQ1A, decaprenyl diphosphate synthase subunit 1, DPS, hDPS1, mDLP1, mSPS1, prenyl (solanesyl) diphosphate synthase, subunit 1, SPS, TPRT, TPT, TPT 1, TPTF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDSS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- all-trans-decaprenyl-diphosphate synthase
- Isoprenoid Biosynthesis enzymes, Class 1
- prenyltransferase
- Polyprenyl synthetase
- enzyme
- protein binding
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- primary coenzyme Q10 deficiency type 2
- fatal infantile multiorgan disease
- idiopathic scoliosis
- CoQ10 deficiency
- overall survival
- productive infection by HIV-1
regulates
- ubiquinone
- terpenoid
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDSS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- isoprenoid biosynthetic process
- ubiquinone biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- heterotetrameric decaprenyl diphosphate synthase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- all-trans-decaprenyl-diphosphate synthase activity
- prenyltransferase activity
- protein heterodimerization activity
- metal ion binding
- all-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity