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Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 [ Mus musculus (house mouse) ]

Gene ID: 71365, updated on 21-Apr-2024

Summary

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Official Symbol
Pdss2provided by MGI
Official Full Name
prenyl (solanesyl) diphosphate synthase, subunit 2provided by MGI
Primary source
MGI:MGI:1918615
See related
Ensembl:ENSMUSG00000038240 AllianceGenome:MGI:1918615
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
kd; Gm60; Plmp; mDLP1; 5430420P03Rik
Summary
Enables protein heterodimerization activity. Contributes to trans-hexaprenyltranstransferase activity and trans-octaprenyltranstransferase activity. Involved in cerebellum development; isoprenoid biosynthetic process; and ubiquinone biosynthetic process. Acts upstream of or within regulation of body fluid levels. Located in mitochondrion. Part of transferase complex. Is expressed in endocrine gland; genitourinary system; nervous system; skin; and stomach. Used to study coenzyme Q10 deficiency disease. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 3. Orthologous to human PDSS2 (decaprenyl diphosphate synthase subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon adult (RPKM 2.3), adrenal adult (RPKM 2.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
10 B2; 10 22.91 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (43095396..43340878)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (43218248..43464882)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_26500 Neighboring gene sine oculis binding protein Neighboring gene predicted gene, 47815 Neighboring gene RIKEN cDNA 9030612E09 gene Neighboring gene STARR-seq mESC enhancer starr_26502 Neighboring gene STARR-seq mESC enhancer starr_26503 Neighboring gene predicted gene, 40631 Neighboring gene STARR-positive B cell enhancer mm9_chr10:43098751-43099051 Neighboring gene ribosomal protein S19, pseudogene 11 Neighboring gene STARR-seq mESC enhancer starr_26505 Neighboring gene STARR-positive B cell enhancer mm9_chr10:43137256-43137557 Neighboring gene STARR-positive B cell enhancer ABC_E9031 Neighboring gene STARR-seq mESC enhancer starr_26511 Neighboring gene ribosomal protein L41 pseudogene Neighboring gene BEN domain containing 3 Neighboring gene predicted gene, 47889

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Coenzyme Q10 restores oocyte mitochondrial function and fertility during reproductive aging. Ben-Meir A, et al. Aging Cell, 2015 Oct. PMID 26111777, Free PMC Article
  2. Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease. Peng M, et al. Hum Mol Genet, 2015 Sep 1. PMID 26041819, Free PMC Article
  3. Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice. Falk MJ, et al. EMBO Mol Med, 2011 Jul. PMID 21567994, Free PMC Article
  4. The mitochondrial and kidney disease phenotypes of kd/kd mice under germfree conditions. Hallman TM, et al. J Autoimmun, 2006 Feb. PMID 16337774, Free PMC Article
  5. Glomerular and tubular epithelial defects in kd/kd mice lead to progressive renal failure. Madaio MP, et al. Am J Nephrol, 2005 Nov-Dec. PMID 16282678, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PDSS2 Inhibits the Ferroptosis of Vascular Endothelial Cells in Atherosclerosis by Activating Nrf2.
    Title: PDSS2 Inhibits the Ferroptosis of Vascular Endothelial Cells in Atherosclerosis by Activating Nrf2.
  2. kidney-specific loss of mitochondria triggered by oxidative stress may be the cause of renal failure in Pdss2(kd/kd) mice
    Title: Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
  3. During cerebellum development, Pdss2 knockout results in severe cerebellum hypoplasia by impairing cell migration and eliciting ectopic apoptosis, whereas Pdss2 knockout in Purkinje cells at postnatal stages leads to the development of cerebellar ataxia.
    Title: Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood.
  4. The authors report that homozygousPdss2 missense mutants also demonstrate significant neuromuscular deficits, as validated by behavioral and coordination assays.
    Title: Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.
  5. Data show that focal segmental glomerulopathy-like kidney disease in Pdss2 mutant animals with primary coenzyme Q (CoQ) deficiency is significantly ameliorated by oral treatment with probucol.
    Title: Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.
  6. Calorie restriction increased both ubiquinone homologues and mPDSS2 mRNA in skeletal muscle, but mCOQ7 was decreased.
    Title: Calorie restriction modifies ubiquinone and COQ transcript levels in mouse tissues.
  7. Dietary supplementation with coenzyme Q10 provides a dramatic rescue of both proteinuria and interstitial nephritis in the Pdss2kd/kd mutant mice.
    Title: Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2.
  8. a presumed autoimmune kidney disease in mice with the missense Pdss2(kd/kd) genotype can be attributed to a mitochondrial CoQ biosynthetic defect
    Title: Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
  9. In kd/kd mice the tubular epithelial defect triggers autoimmune interstitial nephritis, whereas a defect in podocytes leads to proteinuria and glomerulosclerosis.
    Title: Glomerular and tubular epithelial defects in kd/kd mice lead to progressive renal failure.
  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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Associated conditions

Description Tests
kidney disease
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to all-trans-decaprenyl-diphosphate synthase activity ISO
Inferred from Sequence Orthology
more info
  
contributes_to all-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cerebellum development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 isoprenoid biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of body fluid levels IMP
Inferred from Mutant Phenotype
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 ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
part_of heterotetrameric polyprenyl diphosphate synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of heterotetrameric polyprenyl diphosphate synthase complex ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
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 PDSS2
Names
all-trans-decaprenyl-diphosphate synthase subunit 2
decaprenyl pyrophosphate synthase subunit 2
decaprenyl pyrophosphate synthetase subunit 2
decaprenyl-diphosphate synthase subunit 2
prenyltransferase-like mitochondrial protein
solanesyl-diphosphate synthase subunit 2
NP_001161761.1
NP_082048.2
XP_006512915.1
XP_006512916.1
XP_006512917.1
XP_036011908.1

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.

mRNA and Protein(s)

  1. NM_001168289.1 → NP_001161761.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform 2

    See identical proteins and their annotated locations for NP_001161761.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK140091, BY733519
    Consensus CDS
    CCDS48552.1
    UniProtKB/TrEMBL
    E0CYM9
    Related
    ENSMUSP00000124864.2, ENSMUST00000159139.8
    Conserved Domains (1) summary
    cl00210
    Location:65 → 348
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  2. NM_027772.2 → NP_082048.2  all trans-polyprenyl-diphosphate synthase PDSS2 isoform 1

    See identical proteins and their annotated locations for NP_082048.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC152922, BC147693, BY733519
    Consensus CDS
    CCDS35891.1
    UniProtKB/Swiss-Prot
    B2RWA7, B2RWF3, Q33DR3, Q3USU6, Q9D3K7
    UniProtKB/TrEMBL
    E0CYM9
    Related
    ENSMUSP00000093393.5, ENSMUST00000095725.11
    Conserved Domains (1) summary
    cl00210
    Location:69 → 401
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    43095396..43340878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006512852.5 → XP_006512915.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X1

    See identical proteins and their annotated locations for XP_006512915.1

    UniProtKB/TrEMBL
    E0CYM9
    Conserved Domains (1) summary
    cl00210
    Location:69 → 390
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  2. XM_006512854.5 → XP_006512917.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X3

    Conserved Domains (1) summary
    cl00210
    Location:69 → 232
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  3. XM_036156015.1 → XP_036011908.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X4

    Conserved Domains (1) summary
    cl00210
    Location:69 → 241
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  4. XM_006512853.5 → XP_006512916.1  all trans-polyprenyl-diphosphate synthase PDSS2 isoform X2

    UniProtKB/TrEMBL
    E0CYM9
    Related
    ENSMUSP00000124046.2, ENSMUST00000160823.8
    Conserved Domains (1) summary
    cl00210
    Location:69 → 320
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

RNA

  1. XR_871439.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q33DR3.2 GenPept UniProtKB/Swiss-Prot:Q33DR3

Gene LinkOut

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