Dehydrodolichyl diphosphate synthase

DHDDS
Identifiers
Aliases	DHDDS , CIT, CPT, DS, HDS, RP59, Dehydrodolichyl diphosphate synthase, dehydrodolichyl diphosphate synthase subunit, DEDSM, hCIT
External IDs	OMIM: 608172; MGI: 1914672; HomoloGene: 32615; GeneCards: DHDDS; OMA:DHDDS - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.11 Start 26,432,282 bp [1] End 26,471,306 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 D3 Start 133,969,028 bp [2] End 134,000,918 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm cerebellar hemisphere right hemisphere of cerebellum rectum tendon of biceps brachii mucosa of transverse colon islet of Langerhans cerebellar vermis subcutaneous adipose tissue epithelium of colon Top expressed in saccule otic vesicle granulocyte interventricular septum otic placode right kidney neural layer of retina yolk sac ventricular zone dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding polyprenyltransferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups transferase activity dehydrodolichyl diphosphate synthase activity Cellular component endoplasmic reticulum membrane membrane endoplasmic reticulum dehydrodolichyl diphosphate synthase complex Biological process protein glycosylation polyprenol biosynthetic process dolichyl diphosphate biosynthetic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79947 67422 Ensembl ENSG00000117682 ENSMUSG00000012117 UniProt Q86SQ9 Q99KU1 RefSeq (mRNA) NM_001243564 NM_001243565 NM_024887 NM_205861 NM_001319959 NM_026144 RefSeq (protein) NP_001230493 NP_001230494 NP_001306888 NP_079163 NP_995583 NP_080420 NP_001349888 NP_001349889 NP_001349890 NP_001349891 Location (UCSC) Chr 1: 26.43 – 26.47 Mb Chr 4: 133.97 – 134 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene. ^{[5] [6]}

Function

Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. ^[6]

Clinical significance

It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa. ^[7] Since it is involved in the early steps of dolichol synthesis, vital e.g. for correct N-glycosylation, a disease caused by mutations in DHDDS should be considered a congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs). ^[8] Many CDG subtypes present with retinitis pigmentosa as a major feature. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000117682 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000012117 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Endo S, Zhang YW, Takahashi S, Koyama T (Feb 2003). "Identification of human dehydrodolichyl diphosphate synthase gene". Biochim Biophys Acta. 1625 (3): 291–5. doi:10.1016/S0167-4781(02)00628-0. PMID   12591616.
6. "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase".
7. Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D (February 2011). "A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews". Am. J. Hum. Genet. 88 (2): 207–15. doi:10.1016/j.ajhg.2011.01.002. PMC   3035703 . PMID   21295282.
8. Jaeken J, Hennet T, Matthijs G, Freeze HH (September 2009). "CDG nomenclature: time for a change!". Biochim. Biophys. Acta. 1792 (9): 825–6. doi:10.1016/j.bbadis.2009.08.005. PMC   3917312 . PMID   19765534.
9. Freeze HH, Eklund EA, Ng BG, Patterson MC (May 2012). "Neurology of inherited glycosylation disorders". Lancet Neurol. 11 (5): 453–66. doi:10.1016/S1474-4422(12)70040-6. PMC   3625645 . PMID   22516080.

Further reading

• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Jones J, Viswanathan K, Krag SS, Betenbaugh MJ (2005). "Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase". Biochem. Biophys. Res. Commun. 331 (2): 379–83. Bibcode:2005BBRC..331..379J. doi:10.1016/j.bbrc.2005.03.181. PMID   15850770.
• 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.
• Kharel Y, Takahashi S, Yamashita S, Koyama T (2004). "In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system". Biochem. Biophys. Res. Commun. 318 (1): 198–203. Bibcode:2004BBRC..318..198K. doi:10.1016/j.bbrc.2004.04.007. PMID   15110773.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Shridas P, Rush JS, Waechter CJ (2004). "Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells". Biochem. Biophys. Res. Commun. 312 (4): 1349–56. doi:10.1016/j.bbrc.2003.11.065. PMID   14652022.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview