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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
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