PDSS2

PDSS2

Identifiers

PDSS2, C6orf210, COQ10D3, DLP1, bA59I9.3, hDLP1, prenyl (decaprenyl) diphosphate synthase, subunit 2, decaprenyl diphosphate synthase subunit 2, COQ1B

External IDs

OMIM: 610564 MGI: 1918615 HomoloGene: 56885 GeneCards: PDSS2

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6q21	Start	107,152,562 bp^[1]
Band	6q21	End	107,459,564 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10 B2\|10 22.91 cM	Start	43,097,482 bp^[2]
Band	10 B2\|10 22.91 cM	End	43,340,878 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

kidney tubule

secondary oocyte

tibia

glomerulus

metanephric glomerulus

visceral pleura

parietal pleura

endothelial cell

pancreatic ductal cell

right adrenal gland

Top expressed in

secondary oocyte

tibialis anterior muscle

digastric muscle

vastus lateralis muscle

extraocular muscle

gastrocnemius muscle

myocardium of ventricle

sternocleidomastoid muscle

temporal muscle

triceps brachii muscle

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	transferase activity trans-hexaprenyltranstransferase activity protein heterodimerization activity
Cellular component	transferase complex mitochondrial matrix mitochondrion cytosol
Biological process	ubiquinone biosynthetic process protein heterotetramerization regulation of body fluid levels isoprenoid biosynthetic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


57107


71365

Ensembl


ENSG00000164494


ENSMUSG00000038240

UniProt


Q86YH6


Q33DR3

RefSeq (mRNA)


NM_020381


NM_001168289 NM_027772

RefSeq (protein)


NP_065114


NP_001161761 NP_082048

Location (UCSC)

Chr 6: 107.15 – 107.46 Mb

Chr 10: 43.1 – 43.34 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the PDSS2 gene.^[5]

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Transcription

Function

The protein encoded by this gene is an enzyme that synthesizes 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.^[5]

Clinical significance

It may be associated with Coenzyme Q10 deficiency.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164494 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038240 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: prenyl (decaprenyl) diphosphate synthase".
^ Online Mendelian Inheritance in Man (OMIM): 607426

Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. (2007). "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement". J. Am. Soc. Nephrol. 18 (10): 2773–80. doi:10.1681/ASN.2006080833. PMID 17855635.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Cui TZ, Kaino T, Kawamukai M (2010). "A subunit of decaprenyl diphosphate synthase stabilizes octaprenyl diphosphate synthase in Escherichia coli by forming a high-molecular weight complex". FEBS Lett. 584 (4): 652–6. doi:10.1016/j.febslet.2009.12.029. PMID 20051244. S2CID 41737114.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Saiki R, Nagata A, Kainou T, et al. (2005). "Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans". FEBS J. 272 (21): 5606–22. doi:10.1111/j.1742-4658.2005.04956.x. PMID 16262699. S2CID 13735213.
Machuca E, Benoit G, Nevo F, et al. (2010). "Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome". J. Am. Soc. Nephrol. 21 (7): 1209–17. doi:10.1681/ASN.2009121309. PMC 3152225. PMID 20507940.
Chen P, Zhao SH, Chu YL, et al. (2009). "Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line". Anticancer Drugs. 20 (2): 141–8. doi:10.1097/CAD.0b013e32832016a9. PMID 19209031. S2CID 19932575.
Hendrickson SL, Lautenberger JA, Chinn LW, et al. (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Vieira AR, McHenry TG, Daack-Hirsch S, et al. (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genet. Med. 10 (9): 668–74. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.
Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v t e Transferases: alkyl and aryl (EC 2.5)
2.5.1	Dimethylallyltranstransferase Thiaminase I Methionine adenosyltransferase Riboflavin synthase Dihydropteroate synthase Spermidine synthase Glutathione S-transferase Farnesyl-diphosphate farnesyltransferase Spermine synthase Alkylglycerone phosphate synthase Farnesyltransferase Geranylgeranyltransferase type 1 Porphobilinogen deaminase

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

This EC 2.5 enzyme-related article is a stub. You can help Wikipedia by expanding it.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 3 March 2023, at 23:29

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Function

Clinical significance

See also

References

Further reading