Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RFT1 contributors: mct/npt - updated : 12-03-2008
HGNC name RFT1 homolog (S. cerevisiae)
HGNC id 30220
Corresponding disease
CDG1N congenital disorder of glycosylation, type 1N
Location 3p21.1      Physical location : 53.122.502 - 53.164.470
Synonym name RFT1, requiring fifty three 1 homolog
DNA
TYPE functioning gene
STRUCTURE 41.97 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 5112 - 541 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnerve   highly
Reproductivefemale systemuteruscervix highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • RFT1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • role essential for translocation of the cytosolically oriented intermediate dolichol pyrophosphate DolPP-GlcNAc2Man5 into the ER lumen, where lipid-linked
  • oligosaccharides (LLO) assembly is completed
  • required for the translocation of Man5GlcNAc2-PP-Dol from the cytoplasmic to the lumenal leaflet of the ER membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1N
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS