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PDSS1 decaprenyl diphosphate synthase subunit 1 [ Homo sapiens (human) ]

Gene ID: 23590, updated on 11-Apr-2024

Summary

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Official Symbol
PDSS1provided by HGNC
Official Full Name
decaprenyl diphosphate synthase subunit 1provided by HGNC
Primary source
HGNC:HGNC:17759
See related
Ensembl:ENSG00000148459 MIM:607429; AllianceGenome:HGNC:17759
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; COQ1A; TPT 1; hDPS1; COQ10D2
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]
Expression
Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.8) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
10p12.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (26697701..26746798)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (26722732..26768706)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26986630..27035727)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 238 member B Neighboring gene selenoprotein O like, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:26986797-26987685 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3172 Neighboring gene abl interactor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:27070945-27071686 Neighboring gene small nucleolar RNA SNORA57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2239 Neighboring gene RNA, U6 small nuclear 946, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes Metastasis in Triple-Negative Breast Cancer. Yu TJ, et al. Cancer Res, 2021 Nov 1. PMID 34408002
  2. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Nardecchia F, et al. Ann Clin Transl Neurol, 2021 Jan. PMID 33285023, Free PMC Article
  3. 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. Maes M, et al. Neuro Endocrinol Lett, 2009. PMID 20010505
  4. 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. Maes M, et al. Neuro Endocrinol Lett, 2009. PMID 20010493
  5. Biosynthesis of the side chain of ubiquinone:trans-prenyltransferase in rat liver microsomes. Teclebrhan H, et al. J Biol Chem, 1993 Nov 5. PMID 8226825

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes Metastasis in Triple-Negative Breast Cancer.
    Title: PDSS1-Mediated Activation of CAMK2A-STAT3 Signaling Promotes Metastasis in Triple-Negative Breast Cancer.
  2. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
    Title: Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
  3. Genetic variants in PDSS1 and SLC16A6 of the ketone body metabolic pathway predict cutaneous melanoma-specific survival.
    Title: Genetic variants in PDSS1 and SLC16A6 of the ketone body metabolic pathway predict cutaneous melanoma-specific survival.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC70953

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to all-trans-decaprenyl-diphosphate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables prenyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in isoprenoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in isoprenoid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquinone biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of heterotetrameric polyprenyl diphosphate synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
part_of transferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
all trans-polyprenyl-diphosphate synthase PDSS1
Names
all-trans-decaprenyl-diphosphate synthase subunit 1
coenzyme Q1 homolog
decaprenyl pyrophosphate synthase subunit 1
polyprenyl pyrophosphate synthetase
prenyl (decaprenyl) diphosphate synthase, subunit 1
solanesyl-diphosphate synthase subunit 1
subunit 1 of decaprenyl diphosphate synthase
trans-prenyltransferase (TPT)
trans-prenyltransferase 1
NP_001308907.1
NP_001308908.1
NP_055132.2
XP_011517739.1
XP_016871500.1
XP_024303690.1
XP_047280889.1
XP_054221350.1
XP_054221351.1
XP_054221352.1
XP_054221353.1

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

  1. NG_008972.2 RefSeqGene

    Range
    5036..54133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321978.2 → NP_001308907.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK024802, AL390961, BC063635
    UniProtKB/Swiss-Prot
    Q5T2R2
    Conserved Domains (1) summary
    cd00685
    Location:121 → 277
    Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

  2. NM_001321979.2 → NP_001308908.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL390961
    Conserved Domains (1) summary
    cl00210
    Location:1 → 243
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  3. NM_014317.5 → NP_055132.2  all trans-polyprenyl-diphosphate synthase PDSS1 isoform 1

    See identical proteins and their annotated locations for NP_055132.2

    Status: REVIEWED

    Source sequence(s)
    AK024802, BC049211
    Consensus CDS
    CCDS31168.1
    UniProtKB/Swiss-Prot
    Q53F75, Q5T2R2, Q6P473, Q86WQ8, Q9Y2W5
    Related
    ENSP00000365388.5, ENST00000376215.10
    Conserved Domains (2) summary
    PLN02890
    Location:6 → 415
    PLN02890; geranyl diphosphate synthase
    cl00210
    Location:102 → 413
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    26697701..26746798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447922.2 → XP_024303690.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X1

    Conserved Domains (1) summary
    cd00685
    Location:121 → 343
    Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

  2. XM_047424933.1 → XP_047280889.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X4

  3. XM_017016011.3 → XP_016871500.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X2

  4. XM_011519437.4 → XP_011517739.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X3

    Conserved Domains (1) summary
    cl00210
    Location:2 → 290
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    26722732..26768706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365375.1 → XP_054221350.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X1

  2. XM_054365378.1 → XP_054221353.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X4

  3. XM_054365376.1 → XP_054221351.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X2

  4. XM_054365377.1 → XP_054221352.1  all trans-polyprenyl-diphosphate synthase PDSS1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T2R2.1 GenPept UniProtKB/Swiss-Prot:Q5T2R2

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