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

Summary

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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Spontaneous (1)
Targeted (7) 1 citation

General gene information

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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 more info	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

EC 2.5.1.91

NP_082048.2

EC 2.5.1.91

XP_006512915.1

EC 2.5.1.91

XP_006512916.1

EC 2.5.1.91

XP_006512917.1

EC 2.5.1.91

XP_036011908.1

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.

mRNA and Protein(s)

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
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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

43095396..43340878

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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