DPM3
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
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