MPDU1

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

MPDU1
Identifiers
AliasesMPDU1, CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, mannose-P-dolichol utilization defect 1, SLC66A5
External IDsOMIM: 604041 MGI: 1346040 HomoloGene: 3581 GeneCards: MPDU1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17p13.1Start7,583,529 bp[1]
End7,592,789 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9526

24070

Ensembl

ENSG00000129255

ENSMUSG00000018761

UniProt

O75352

Q9R0Q9

RefSeq (mRNA)

NM_004870
NM_001330073

NM_001301710
NM_001301711
NM_011900

RefSeq (protein)

NP_001317002
NP_004861

n/a

Location (UCSC)Chr 17: 7.58 – 7.59 MbChr 11: 69.66 – 69.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

See also


References

  1. GRCh38: Ensembl release 89: ENSG00000129255 - Ensembl, May 2017
  2. 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. 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".

Further reading


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