ДПМ3

DPM3
Identifikatori
Alijasi	DPM3
Spoljašnji ID	OMIM: 605951 MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Genska lokacija (miš)
Hr.	Chromosome 3 (mouse)
Kraj	89,174,386 bp
Genska ontologija
Molecular function	• dolichyl-phosphate beta-D-mannosyltransferase activity; • GO:0001948, GO:0016582 везивање за протеине плазме;
Cellular component	• саставни део мембране; • dolichol-phosphate-mannose synthase complex; • integral component of endoplasmic reticulum membrane; • mannosyltransferase complex; • endoplasmic reticulum membrane; • ендоплазматични ретикулум; • мембрана;
Biological process	• GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • GPI anchor biosynthetic process; • protein mannosylation; • protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; • regulation of protein stability; • protein O-linked mannosylation; • protein N-linked glycosylation via asparagine; • Метаболизам угљених хидрата;
	Sources:Amigo / QuickGO
Ortolozi
	54344
	68563
	ENSG00000179085
	ENSMUSG00000042737
	Q9P2X0; Q86TM7
	Q9D1Q4
	NM_153741; NM_018973
	NM_026767
	NP_061846; NP_714963; NP_714963.1
	NP_081043
	Wikidata
View/Edit Human	View/Edit Mouse

Polipeptid dolihil-fosfat manoziltransferaze 3, takođe poznat kao DPM3, je ljudski gen.^[4]^[5]

Funkcija

Dolihol-fosfatna manoza (Dol-P-Man) služi kao donator manozilnih ostataka na lumenalnoj strani endoplazmatskog retikuluma (ER). Nedostatak Dol-P-Man-a rezultira defektnom površinskom ekspresijom GPI-usidrenih proteina. Dol-P-Man se sintetiše iz GDP-manoze i dolihol-fosfata na citosolnoj strani ER pomoću enzima dolihil-fosfat manoziltransferaze. Protein koji je kodiran ovim genom je podjedinica dolihil-fosfat manoziltransferaze i deluje kao stabilizatorska podjedinica kompleksa dolihil-fosfat manoziltransferaze.^[4]

Klinički značaj

Mutacije ovog gena su povezane sa urođenim poremećajem glikozilacije tipa 1O.^[6]

Reference

^ ^а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000042737 - 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.
^ ^а ^б „Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3”.
^ Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (јун 2000). „Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3”. EMBO J. 19 (11): 2475—82. PMC 212771  . PMID 10835346. doi:10.1093/emboj/19.11.2475.
^ Haeuptle MA, Hennet T (децембар 2009). „Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides” (PDF). Hum. Mutat. 30 (12): 1628—41. PMID 19862844. S2CID 46281092. doi:10.1002/humu.21126. Архивирано из оригинала (PDF) 2021-05-18. г. Приступљено 2019-12-11.

Literatura

Maeda Y, Watanabe R, Harris CL, et al. (2001). „PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.”. EMBO J. 20 (1–2): 250—61. PMC 140182  . PMID 11226175. doi:10.1093/emboj/20.1.250.
Ashida H, Maeda Y, Kinoshita T (2006). „DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3.”. J. Biol. Chem. 281 (2): 896—904. PMID 16280320. doi:10.1074/jbc.M511311200  .
Maeda Y, Tanaka S, Hino J, et al. (2000). „Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.”. EMBO J. 19 (11): 2475—82. PMC 212771  . PMID 10835346. doi:10.1093/emboj/19.11.2475.
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. PMC 139241  . PMID 12477932. doi:10.1073/pnas.242603899  .
Manos EJ, Kim ML, Kassis J, et al. (2001). „Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel phospholipase C-gamma regulated gene negatively associated with prostate tumor invasion.”. Oncogene. 20 (22): 2781—90. PMID 11420690. doi:10.1038/sj.onc.1204379  .
Gregory SG, Barlow KF, McLay KE, et al. (2006). „The DNA sequence and biological annotation of human chromosome 1.”. Nature. 441 (7091): 315—21. Bibcode:2006Natur.441..315G. PMID 16710414. doi:10.1038/nature04727  .

Spoljašnje veze

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

[refGRCm38Ensembl-1] а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000042737 - Ensembl, May 2017

[2] „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] а ^б „Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3”.

[pmid10835346-5] Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (јун 2000). „Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3”. EMBO J. 19 (11): 2475—82. PMC 212771  . PMID 10835346. doi:10.1093/emboj/19.11.2475.

[pmid19862844-6] Haeuptle MA, Hennet T (децембар 2009). „Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides” (PDF). Hum. Mutat. 30 (12): 1628—41. PMID 19862844. S2CID 46281092. doi:10.1002/humu.21126. Архивирано из оригинала (PDF) 2021-05-18. г. Приступљено 2019-12-11.

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