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FLASH GENE
Symbol MPDU1 contributors: mct/npt - updated : 18-09-2009
HGNC name mannose-P-dolichol utilization defect 1
HGNC id 7207
Corresponding disease
CDG1F congenital disorder of glycosylation, type 1F
Location 17p13.1      Physical location : 7.486.964 - 7.491.525
Synonym name
  • suppressor of Lec15 and Lec35 glycosylation mutation
  • homolog
  • HBeAg-binding protein 2 binding protein A
  • Synonym symbol(s) SL15, LEC35, PQLC5, HBEBP2BPA, LEC35p, FLJ14836, My008, PP3958
    DNA
    TYPE functioning gene
    STRUCTURE 4.57 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D17S1828 - D17S796 - D17S938 - TP53 - MPDU1 - RPL26 - D17S786 - cen
    Authors GeneMap (98)
    Physical map
    KCTD11 17p13.2 potassium channel tetramerisation domain containing 11 LOC339168 17p13.2 hypothetical protein LOC339168 TNK1 17p13.1 tyrosine kinase, non-receptor, 1 PLSCR3 17p13.2 phospholipid scramblase 3 MGC40107 17p13.2 hypothetical protein MGC40107 NLGN2 17p13 neuroligin 2 LOC374768 17p13.2 hypothetical protein LOC374768 LOC201243 17p13.2 hypothetical protein LOC201243 LOC388329 17 similar to ENSANGP00000015193 FLJ36878 17p13.2 hypothetical protein FLJ36878 LOC388330 17 LOC388330 FGF11 17p13.1 fibroblast growth factor 11 CHRNB1 17p13.1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ZBTB4 17p13.2 zinc finger and BTB domain containing 4 POLR2A 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa TNFSF12 17p13.1 tumor necrosis factor (ligand) superfamily, member 12 TNFSF13 17p13.1 tumor necrosis factor (ligand) superfamily, member 13 SENP3 17p13 tumor necrosis factor (ligand) superfamily, member 13 EIF4A1 17p13.1 eukaryotic translation initiation factor 4A, isoform 1 CD68 17p13.1 CD68 antigen MPDU1 17p13.1-p12 mannose-P-dolichol utilization defect 1 SOX15 17p12.3 SRY (sex determining region Y)-box 15 FXR2 17p13.1 fragile X mental retardation, autosomal homolog 2 SAT2 17p13.2 spermidine/spermine N1-acetyltransferase 2 SHBG 17p13.1 sex hormone-binding globulin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1634 - 247 - Anand (2001)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     intestinesmall intestine  predominantly
     intestinelarge intestinecolon moderately
     pancreas exocrine   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  moderately
     female systemuteruscervix highly
     female systembreast   
     male systemprostate  moderately
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Connectivebone  moderately
    Muscularstriatumcardiac  
    Nervouscentral   
    cell lineage germ cells
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two potential member spanning segments
  • likely C terminal endoplasmic reticulum retention signal
  • two PQ-loop domains
  • HOMOLOGY
    interspecies ortholog to rattus Mpdu1 (87.9pc)
    ortholog to murine Mpdu1 (90.7pc)
    Homologene
    FAMILY
  • MPDU1 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text cytosilic C and N termini
    basic FUNCTION
  • required for utilization of the mannose donor mannose-P-dolichol (MPD) in synthesis of both lipid-linked oligosaccharides (LLOs) and glycosylphosphatidylinositols, which are important for functions such as protein folding and membrane anchoring (Anand (2001)
  • controls an aspect of mannose-P-dolichol (MPD) orientation in the endoplasmic reticulum membrane that is crucial for its activity as a donor substrate (Anand 2001)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1F
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS