Human Gene MPDU1 (uc002ghw.3) Description and Page Index
Description: Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA. RefSeq Summary (NM_004870): This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. Transcript (Including UTRs) Position: hg19 chr17:7,486,965-7,491,527 Size: 4,563 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr17:7,487,181-7,490,869 Size: 3,689 Coding Exon Count: 7
ID:MPU1_HUMAN DESCRIPTION: RecName: Full=Mannose-P-dolichol utilization defect 1 protein; AltName: Full=Suppressor of Lec15 and Lec35 glycosylation mutation homolog; Short=SL15; FUNCTION: Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors (By similarity). INTERACTION: O95714:HERC2; NbExp=1; IntAct=EBI-1046501, EBI-1058922; Q15014:MORF4L2; NbExp=1; IntAct=EBI-1046501, EBI-399257; Q15126:PMVK; NbExp=1; IntAct=EBI-1046501, EBI-1055562; Q9H0J4:QRICH2; NbExp=1; IntAct=EBI-1046501, EBI-1053637; P61247:RPS3A; NbExp=1; IntAct=EBI-1046501, EBI-352378; Q15758:SLC1A5; NbExp=1; IntAct=EBI-1046501, EBI-356576; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). DISEASE: Defects in MPDU1 are the cause of congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. SIMILARITY: Belongs to the MPDU1 (TC 2.A.43.3) family. SIMILARITY: Contains 2 PQ-loop domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPDU1";
Genetic Association Studies of Complex Diseases and Disorders
Glomerulonephritis, IGA Xue-Qing Yu et al. Nature genetics 2012, A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75352
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.