PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PDSS1provided by HGNC
Official Full Name: prenyl (decaprenyl) diphosphate synthase, subunit 1provided by HGNC
Primary source: HGNC:17759
See related: Ensembl:ENSG00000148459; HPRD:09591; MIM:607429; Vega:OTTHUMG00000017844
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DPS; SPS; TPT; COQ1; TPRT; TPT 1; hDPS1; COQ10D2; RP13-16H11.3
Summary: 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]

Genomic context

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Location :: 10p12.1

Sequence :: Chromosome: 10; NC_000010.10 (26986595..27035727)

See PDSS1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data show that expression of either dlp1 or dps1 recovered the thermo-sensitive growth of an E. coli ispB(R321A) mutant and restored IspB activity and production of Coenzyme Q-8.
Title: A subunit of decaprenyl diphosphate synthase stabilizes octaprenyl diphosphate synthase in Escherichia coli by forming a high-molecular weight complex.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
lowered levels of CoQ10 play a role in the pathophysiology of myalgic encephalomyelitis/ chronic fatigue and that symptoms, such as fatigue, and autonomic and neurocognitive symptoms may be caused by CoQ10 depletion
Title: Coenzyme Q10 deficiency in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is related to fatigue, autonomic and neurocognitive symptoms and is another risk factor explaining the early mortality in ME/CFS due to cardiovascular disorder.
low CoQ10 is another factor explaining the risk to cardiovascular disorder in depression
Title: Lower plasma Coenzyme Q10 in depression: a marker for treatment resistance and chronic fatigue in depression and a risk factor to cardiovascular disorder in that illness.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
murine and human solanesyl and decaprenyl diphosphate synthases are heterotetramers composed of newly characterized hDPS1 (mSPS1) and hDLP1 (mDLP1)
Title: Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.
A deletirious mutation D308E that causes severe ubiquinone deficiency was identified in PDSS1.
Title: Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Coenzyme Q10 deficiency, primary, 2

MIM: 614651

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:117125	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Terpenoid backbone biosynthesis, organism-specific biosystem (from KEGG)
Terpenoid backbone biosynthesis, organism-specific biosystemTerpenoids, also known as isoprenoids, are a large class of natural products consisting of isoprene (C5) units. There are two biosynthetic pathways, the mevalonate pathway [MD:M00095] and the non-mev...
Terpenoid backbone biosynthesis, conserved biosystem (from KEGG)
Terpenoid backbone biosynthesis, conserved biosystemTerpenoids, also known as isoprenoids, are a large class of natural products consisting of isoprene (C5) units. There are two biosynthetic pathways, the mevalonate pathway [MD:M00095] and the non-mev...
Ubiquinol biosynthesis, organism-specific biosystem (from REACTOME)
Ubiquinol biosynthesis, organism-specific biosystemThe length of the polyisoprenoid chain of ubiquinone aka coenzyme Q (Q), varies depending on the species involved: it is 6 in budding yeast, Saccharomyces cerevisiae, (Q6) and 10 in humans (Q10). Mo...
all-trans-decaprenyl diphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
all-trans-decaprenyl diphosphate biosynthesis, organism-specific biosystemIn this pathway multiple units of : DELTA3-ISOPENTENYL-PP (IPP) undergo a series of polymerizations to form a polyisoprenoid chain. The sequential addition of isoprenyl units to : FARNESYL-PP is per...
all-trans-decaprenyl diphosphate biosynthesis, conserved biosystem (from BIOCYC)
all-trans-decaprenyl diphosphate biosynthesis, conserved biosystemIn this pathway multiple units of |FRAME: DELTA3-ISOPENTENYL-PP| (IPP) undergo a series of polymerizations to form a polyisoprenoid chain. The sequential addition of isoprenyl units to |FRAME: FARNE...

General gene information

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Markers

SHGC-155915 (e-PCR)
- UniSTS:185235

D11S1134 (e-PCR)
- UniSTS:38367

RH41873 (e-PCR)
- UniSTS:37612

SHGC-58149 (e-PCR)
- UniSTS:1008

Genotypes

See PDSS1 SNP Geneview Report
See PDSS1 SNP Genotype Report
See PDSS1 SNP Variation Viewer Report

Homology

Homologs of the PDSS1 gene: The PDSS1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to trans-hexaprenyltranstransferase activity	IDA Inferred from Direct Assay more info	PubMed
trans-octaprenyltranstransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
isoprenoid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
protein heterotetramerization	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info
ubiquinone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
ubiquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
ubiquinone biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info

General protein information

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Preferred Names: decaprenyl-diphosphate synthase subunit 1

Names: decaprenyl-diphosphate synthase subunit 1; coenzyme Q1 homolog; trans-prenyltransferase 1; trans-prenyltransferase (TPT); polyprenyl pyrophosphate synthetase; decaprenyl pyrophosphate synthase subunit 1; subunit 1 of decaprenyl diphosphate synthase; all-trans-decaprenyl-diphosphate synthase subunit 1

NP_055132.2

EC 2.5.1.91

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008972.1 RefSeqGene

Range

5001..54133

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014317.3 → NP_055132.2 decaprenyl-diphosphate synthase subunit 1

Status: REVIEWED

Source sequence(s)

AK024802, BC049211

Consensus CDS

CCDS31168.1

UniProtKB/Swiss-Prot

Q5T2R2

Related

ENSP00000365388, OTTHUMP00000019346, ENST00000376215, OTTHUMT00000047276

Conserved Domains (2) summary

cd00685
Location:121 – 413
Blast Score: 656

Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

PLN02890
Location:41 – 415
Blast Score: 680

PLN02890; geranyl diphosphate synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

26986595..27035727

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

26646251..26696013

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

26896318..26942291

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01034412.1 (73865..110411)	None
genomic	ABBA01034413.1	None
genomic	AL390961.17 (86623..135755)	None
genomic	AMYH01002201.1 (66107..112080)	None
genomic	CH471072.2	EAW86084.1
		EAW86085.1
mRNA	AB209763.1	BAD93000.1
mRNA	AB210838.1	BAE48216.1
mRNA	AF118395.1	AAD28559.1
mRNA	AK024802.1	None
mRNA	AK223414.1	BAD97134.1
mRNA	AK296288.1	BAG58993.1
mRNA	BC049211.1	AAH49211.1
mRNA	BC063635.1	AAH63635.1