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Wikipedia

DPM3

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.[5][6]

DPM3
Identifiers
AliasesDPM3, CDG1O, dolichyl-phosphate mannosyltransferase subunit 3, dolichyl-phosphate mannosyltransferase subunit 3, regulatory, MDDGB15, MDDGC15
External IDsOMIM: 605951 MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153741
NM_018973

NM_026767

RefSeq (protein)

NP_061846
NP_714963
NP_714963.1

NP_081043

Location (UCSC)Chr 1: 155.14 – 155.14 MbChr 3: 89.17 – 89.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex.[5]

Clinical significance edit

Mutations in this gene are associated with congenital disorder of glycosylation type 1O.[7]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179085 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042737 - 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. ^ a b "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3".
  6. ^ Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (June 2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475–82. doi:10.1093/emboj/19.11.2475. PMC 212771. PMID 10835346.
  7. ^ Haeuptle MA, Hennet T (December 2009). (PDF). Hum. Mutat. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844. S2CID 46281092. Archived from the original (PDF) on 2021-05-18. Retrieved 2019-12-11.

Further reading edit

  • 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. doi:10.1093/emboj/20.1.250. PMC 140182. PMID 11226175.
  • 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. doi:10.1074/jbc.M511311200. PMID 16280320.
  • 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. doi:10.1093/emboj/19.11.2475. PMC 212771. PMID 10835346.
  • 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.
  • 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. doi:10.1038/sj.onc.1204379. PMID 11420690. S2CID 24726733.
  • 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. doi:10.1038/nature04727. PMID 16710414.

External links edit

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

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



dpm3, dolichyl, phosphate, mannosyltransferase, polypeptide, also, known, human, gene, identifiersaliases, cdg1o, dolichyl, phosphate, mannosyltransferase, subunit, dolichyl, phosphate, mannosyltransferase, subunit, regulatory, mddgb15, mddgc15external, idsomi. dolichyl phosphate mannosyltransferase polypeptide 3 also known as DPM3 is a human gene 5 6 DPM3IdentifiersAliasesDPM3 CDG1O dolichyl phosphate mannosyltransferase subunit 3 dolichyl phosphate mannosyltransferase subunit 3 regulatory MDDGB15 MDDGC15External IDsOMIM 605951 MGI 1915813 HomoloGene 17810 GeneCards DPM3Gene location Human Chr Chromosome 1 human 1 Band1q22Start155 139 891 bp 1 End155 140 595 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 3 F1Start89 166 665 bp 2 End89 174 386 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inanterior pituitaryright adrenal glandright uterine tubemonocytebody of pancreascanal of the cervixright lobe of liverright lobe of thyroid glandleft lobe of thyroid glandbody of stomachTop expressed inintestinal villusyolk saclipesophagusankle jointinterventricular septumsuperior frontal gyruscorneal stromablastocystmorulaMore reference expression dataBioGPSn aGene ontologyMolecular functiondolichyl phosphate beta D mannosyltransferase activity protein bindingCellular componentintegral component of membrane dolichol phosphate mannose synthase complex integral component of endoplasmic reticulum membrane mannosyltransferase complex endoplasmic reticulum membrane endoplasmic reticulum membraneBiological processprotein 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 carbohydrate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5434468563EnsemblENSG00000179085ENSMUSG00000042737UniProtQ9P2X0Q86TM7Q9D1Q4RefSeq mRNA NM 153741NM 018973NM 026767RefSeq protein NP 061846NP 714963NP 714963 1NP 081043Location UCSC Chr 1 155 14 155 14 MbChr 3 89 17 89 17 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editDolichol phosphate mannose Dol P Man serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum ER Lack of Dol P Man results in defective surface expression of GPI anchored proteins Dol P Man is synthesized from GDP mannose and dolichol phosphate on the cytosolic side of the ER by the enzyme dolichyl phosphate mannosyltransferase The protein encoded by this gene is a subunit of dolichyl phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl phosphate mannosyltransferase complex 5 Clinical significance editMutations in this gene are associated with congenital disorder of glycosylation type 1O 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000179085 Ensembl May 2017 a b c 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 a b Entrez Gene dolichyl phosphate mannosyltransferase polypeptide 3 Maeda Y Tanaka S Hino J Kangawa K Kinoshita T June 2000 Human dolichol phosphate mannose synthase consists of three subunits DPM1 DPM2 and DPM3 EMBO J 19 11 2475 82 doi 10 1093 emboj 19 11 2475 PMC 212771 PMID 10835346 Haeuptle MA Hennet T December 2009 Congenital disorders of glycosylation an update on defects affecting the biosynthesis of dolichol linked oligosaccharides PDF Hum Mutat 30 12 1628 41 doi 10 1002 humu 21126 PMID 19862844 S2CID 46281092 Archived from the original PDF on 2021 05 18 Retrieved 2019 12 11 Further reading editMaeda 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 doi 10 1093 emboj 20 1 250 PMC 140182 PMID 11226175 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 doi 10 1074 jbc M511311200 PMID 16280320 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 doi 10 1093 emboj 19 11 2475 PMC 212771 PMID 10835346 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 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 doi 10 1038 sj onc 1204379 PMID 11420690 S2CID 24726733 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 doi 10 1038 nature04727 PMID 16710414 External links editGeneReviews NCBI NIH UW entry on Congenital Disorders of Glycosylation Overview This article incorporates text from the United States National Library of Medicine which is in the public domain Portal nbsp Biology nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DPM3 amp oldid 1197160934, wikipedia, wiki, book, books, library,

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