MPDU1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

MPDU1
Identifiers
Aliases	MPDU1, CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, mannose-P-dolichol utilization defect 1, SLC66A5
External IDs	OMIM: 604041; MGI: 1346040; HomoloGene: 3581; GeneCards: MPDU1; OMA:MPDU1 - orthologs
Gene location (Human)Chr.Chromosome 17 (human)[1]Band17p13.1Start7,583,529 bp[1]End7,592,789 bp[1]
Gene location (Mouse)Chr.Chromosome 11 (mouse)[2]Band11 B3|11 42.86 cMStart69,547,523 bp[2]End69,553,468 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inrectummucosa of transverse colonislet of Langerhansright lobe of liverright adrenal cortexleft adrenal glandleft adrenal cortexgranulocytegallbladderbody of stomachTop expressed inyolk sacneural layer of retinalipright kidneymorulamorulagranulocyteventricular zoneankle jointduodenumMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein binding Cellular component integral component of membrane extracellular exosome endoplasmic reticulum membrane membrane mitochondrion endoplasmic reticulum Biological process dolichol-linked oligosaccharide biosynthetic process oligosaccharide biosynthetic process protein folding transport Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez952624070EnsemblENSG00000129255ENSMUSG00000018761UniProtO75352Q9R0Q9RefSeq (mRNA)NM_004870NM_001330073NM_001301710NM_001301711NM_011900RefSeq (protein)NP_001317002NP_004861n/aLocation (UCSC)Chr 17: 7.58 – 7.59 MbChr 11: 69.55 – 69.55 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene.[5][6][7][8]

• Dolichol monophosphate mannose
• Congenital disorder of glycosylation

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129255 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018761 – 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. ^ Ware FE, Lehrman MA (Aug 1996). "Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells". J Biol Chem. 271 (24): 13935–8. doi:10.1074/jbc.271.24.13935. PMID 8663248.
6. ^ Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (Aug 1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proc Natl Acad Sci U S A. 95 (14): 8175–80. Bibcode:1998PNAS...95.8175M. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
7. ^ Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M (Dec 2001). "MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If". J Clin Invest. 108 (11): 1687–95. doi:10.1172/JCI13419. PMC 200989. PMID 11733564.
8. ^ "Entrez Gene: MPDU1 mannose-P-dolichol utilization defect 1".

• 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.

• 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.

• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.

• Anand M, Rush JS, Ray S, et al. (2001). "Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals". Mol. Biol. Cell. 12 (2): 487–501. doi:10.1091/mbc.12.2.487. PMC 30958. PMID 11179430.

• Kranz C, Denecke J, Lehrman MA, et al. (2002). "A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)". J. Clin. Invest. 108 (11): 1613–9. doi:10.1172/JCI13635. PMC 200991. PMID 11733556.

• 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.

• 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.

• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.

• Pope SN, Lee IR (2005). "Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin". J. Steroid Biochem. Mol. Biol. 94 (1–3): 203–8. doi:10.1016/j.jsbmb.2005.01.007. PMID 15862967. S2CID 9746088.

• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

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