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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
Physical map
LOC391538 3 similar to fructose-1,6-bisphosphate aldolase A ALAS1 3p21.1 aminolevulinate, delta-, synthase 1 TLR9 3p21.3 toll-like receptor 9 PTK9L 3p21.1 PTK9L protein tyrosine kinase 9-like (A6-related protein) FLJ32332 3p21.31 likely ortholog of mouse protein phosphatase 2C eta PRO2730 3p21.31 hypothetical protein PRO2730 GLYCTK 3p21.31 CG9886-like PPP2R5CP 3p21.3 protein phosphatase 2, regulatory subunit B (B56), gamma isoform pseudogene BAP1 3p21.31-p21.2 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) PHF7 3p21.31 PHD finger protein 7 LOC56920 3p21.31 semaphorin sem2 TNNC1 3p21.3-p14.3 troponin C, slow NISCH 3p21.1 nischarin STAB1 3p21.31 stabilin 1 FLJ12442 3p21.31 hypothetical protein FLJ12442 PB1 3p21 hypothetical protein FLJ12442 NS 3p21.31 nucleostemin AD-017 3p21.31 glycosyltransferase AD-017 SPC12 3p21.31 signal peptidase 12kDa NEK4 3p21.1 NIMA (never in mitosis gene a)-related kinase 4 ITIH1 3p21.2-p21.1 inter-alpha (globulin) inhibitor, H1 polypeptide ITIH3 3p21.2-p21.1 pre-alpha (globulin) inhibitor, H3 polypeptide ITIH4 3p21.2-p21.1 inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein) LOC389125 3 similar to hypothetical protein MGC52022 3p21.31 Similar to RIKEN cDNA 1810038N08 gene SFMBT1 3p21.31 Scm-like with four mbt domains 1 LOC285398 3p21.31 hypothetical protein LOC285398 RFT1 3p21.31 putative endoplasmic reticulum multispan transmembrane protein PRKCD 3p21.31 protein kinase C, delta TKT 3p14.3 transketolase (Wernicke-Korsakoff syndrome) HSA275986 3p21.31 transcription factor SMIF LOC391539 3 similar to 40S ribosomal protein S25 CACNA1D 3p14.3 calcium channel, voltage-dependent, L type, alpha 1D subunit CHDH 3p21.1 choline dehydrogenase IL17RB 3p21.1 interleukin 17 receptor B ACTR8 3p21.31 ARP8 actin-related protein 8 homolog (yeast) SELK 3p21.31 selenoprotein K
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