true2007-11-132024-03-27160RFT1_HUMANCommon origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.Oriol R.Martinez-Duncker I.Chantret I.Mollicone R.Codogno P.doi:10.1093/oxfordjournals.molbev.a0042082002Mol. Biol. Evol.191451-1463NUCLEOTIDE SEQUENCE [MRNA]EmbryoMural R.J.Istrail S.Sutton G.G.Florea L.Halpern A.L.Mobarry C.M.Lippert R.Walenz B.Shatkay H.Dew I.Miller J.R.Flanigan M.J.Edwards N.J.Bolanos R.Fasulo D.Halldorsson B.V.Hannenhalli S.Turner R.Yooseph S.Lu F.Nusskern D.R.Shue B.C.Zheng X.H.Zhong F.Delcher A.L.Huson D.H.Kravitz S.A.Mouchard L.Reinert K.Remington K.A.Clark A.G.Waterman M.S.Eichler E.E.Adams M.D.Hunkapiller M.W.Myers E.W.Venter J.C.2005-09EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project Teamdoi:10.1101/gr.25965042004Genome Res.142121-2127NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]BrainPlacentaHuman RFT1 deficiency leads to a disorder of N-linked glycosylation.Haeuptle M.A.Pujol F.M.Neupert C.Winchester B.Kastaniotis A.J.Aebi M.Hennet T.doi:10.1016/j.ajhg.2007.12.0212008Am. J. Hum. Genet.82600-606FUNCTIONVARIANT CDG1N CYS-67N-terminome analysis of the human mitochondrial proteome.Vaca Jacome A.S.Rabilloud T.Schaeffer-Reiss C.Rompais M.Ayoub D.Lane L.Bairoch A.Van Dorsselaer A.Carapito C.doi:10.1002/pmic.2014006172015Proteomics152519-2524IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]RFT1 deficiency in three novel CDG patients.Vleugels W.Haeuptle M.A.Ng B.G.Michalski J.-C.Battini R.Dionisi-Vici C.Ludman M.D.Jaeken J.Foulquier F.Freeze H.H.Matthijs G.Hennet T.doi:10.1002/humu.210852009Hum. Mutat.301428-1434VARIANTS CDG1N CYS-67; GLU-152 AND LYS-29810628the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily95 antibodies from 22 providershumanRFT1Low tissue specificitygenephenotypeRFT1-CDGEukaryotaBiosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinDefective RFT1 causes CDG-1n636 hits in 1156 CRISPR screenshumanTbioProteinExpressed in primordial germ cell in gonad and 139 other cell types or tissuesbaseline and differentialRFT1ENDOPLASMIC RETICULUM MULTISPAN TRANSMEMBRANE PROTEIN-RELATEDPROTEIN RFT1 HOMOLOGRft-1HSProtein RFT1 homologRFT1May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.The disease is caused by variants affecting the gene represented in this entry.Belongs to the RFT1 family.Protein RFT1 homolog603351541Helical1636Helical4262Helical85105Helical123143Helical155174Helical187207Helical335355Helical376396Helical404423Helical428450Helical470490Helical499519In CDG1N.C67In CDG1N.E152T185In CDG1N.K298false3false3false3false3false3false3false3false3false3AQP6BEST2CNR2CREB3L1ERGIC3MUC1RNF144ATMX2TSPAN122001-12-0116033597a0bb94055283ddebc205eda6667b05MGSQEVLGHAARLASSGLLLQVLFRLITFVLNAFILRFLSKEIVGVVNVRLTLLYSTTLFLAREAFRRACLSGGTQRDWSQTLNLLWLTVPLGVFWSLFLGWIWLQLLEVPDPNVVPHYATGVVLFGLSAVVELLGEPFWVLAQAHMFVKLKVIAESLSVILKSVLTAFLVLWLPHWGLYIFSLAQLFYTTVLVLCYVIYFTKLLGSPESTKLQTLPVSRITDLLPNITRNGAFINWKEAKLTWSFFKQSFLKQILTEGERYVMTFLNVLNFGDQGVYDIVNNLGSLVARLIFQPIEESFYIFFAKVLERGKDATLQKQEDVAVAAAVLESLLKLALLAGLTITVFGFAYSQLALDIYGGTMLSSGSGPVLLRSYCLYVLLLAINGVTECFTFAAMSKEEVDRYNFVMLALSSSFLVLSYLLTRWCGSVGFILANCFNMGIRITQSLCFIHRYYRRSPHRPLAGLHLSPVLLGTFALSGGVTAVSEVFLCCEQGWPARLAHIAVGAFCLGATLGTAFLTETKLIHFLRTQLGVPRRTDKMTtruetruetruetruetruetrue