RFT1
entrez
91869
canonical
uniprot
Q96AA3
canonical
ensembl
ENSG00000163933
resolver
ensp
ENSP00000296292
resolver
ensp
ENSP00000520849
resolver
ensp
ENSP00000579853
resolver
ensp
ENSP00000734364
resolver
ensp
ENSP00000783931
resolver
enst
ENST00000296292
resolver
genesymbol
RFT1
resolver
hgnc
HGNC:30220
resolver
uniprot
Q96J03
resolver
uniprot_entry
RFT1_HUMAN
resolver
uniprot_sec
Q96J03
resolver
amino_acid_sequence
MGSQEVLGHAARLASSGLLLQVLFRLITFVLNAFILRFLSKEIVGVVNVRLTLLYSTTLFLAREAFRRACLSGGTQRDWSQTLNLLWLTVPLGVFWSLFLGWIWLQLLEVPDPNVVPHYATGVVLFGLSAVVELLGEPFWVLAQAHMFVKLKVIAESLSVILKSVLTAFLVLWLPHWGLYIFSLAQLFYTTVLVLCYVIYFTKLLGSPESTKLQTLPVSRITDLLPNITRNGAFINWKEAKLTWSFFKQSFLKQILTEGERYVMTFLNVLNFGDQGVYDIVNNLGSLVARLIFQPIEESFYIFFAKVLERGKDATLQKQEDVAVAAAVLESLLKLALLAGLTITVFGFAYSQLALDIYGGTMLSSGSGPVLLRSYCLYVLLLAINGVTECFTFAAMSKEEVDRYNFVMLALSSSFLVLSYLLTRWCGSVGFILANCFNMGIRITQSLCFIHRYYRRSPHRPLAGLHLSPVLLGTFALSGGVTAVSEVFLCCEQGWPARLAHIAVGAFCLGATLGTAFLTETKLIHFLRTQLGVPRRTDKMT
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. {ECO:0000269|PubMed:18313027, ECO:0000269|PubMed:19701946}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Intramembrane glycolipid transporter that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. RFT1 could mediate the translocation of the cytosolically oriented intermediate DolPP-GlcNAc2Man5, produced by ALG11, into the ER lumen where dolichol-linked oligosaccharides assembly continues (PubMed:18313027, PubMed:19701946). However, the intramembrane lipid transporter activity could not be confirmed in vitro (By similarity). {ECO:0000250|UniProtKB:P38206, ECO:0000269|PubMed:18313027, ECO:0000269|PubMed:19701946}.
uniprot
proteins
mass_dalton
60335
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:18313027}.
uniprot
proteins
protein_family
RFT1 family
uniprot
proteins
pubmed
12200473
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18313027
uniprot
proteins
pubmed
19701946
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P38206}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..36; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 42..62; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 85..105; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 155..174; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 335..355; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 376..396; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 404..423; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 428..450; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 470..490; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 499..519; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins