Gene Gene information from NCBI Gene database.
Entrez ID 91869
Gene name RFT1 glycolipid translocator homolog
Gene symbol RFT1
Synonyms (NCBI Gene)
CDG1NSLC76A1
Chromosome 3
Chromosome location 3p21.1
Summary This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs118203913 G>A Pathogenic 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs140127085 G>A,C Conflicting-interpretations-of-pathogenicity Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs141174358 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance 5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs192264403 A>C,G Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
rs748350251 C>- Likely-pathogenic Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
643
miRTarBase ID miRNA Experiments Reference
MIRT001422 hsa-miR-16-5p pSILAC 18668040
MIRT001338 hsa-miR-1-3p pSILAC 18668040
MIRT021700 hsa-miR-133a-3p Microarray 21396852
MIRT022119 hsa-miR-124-3p Microarray 18668037
MIRT001338 hsa-miR-1-3p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane IGI 18313027
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611908 30220 ENSG00000163933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AA3
Protein name Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 (Protein RFT1 homolog)
Protein 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 pyrophospha
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04506 Rft-1 9 530 Rft protein Family
Sequence
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective RFT1 causes RFT1-CDG (CDG-1n)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
501
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RFT1-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs2107094933, rs118203913, rs763862849, rs796053521, rs772820136, rs796053522, rs749968109, rs776522715, rs2470953491, rs913477149, rs1575494302, rs1701662808 RCV002039638
RCV000000821
RCV000190246
RCV000190247
RCV000190248
RCV000190249
RCV000190250
RCV000190251
RCV003314398
RCV004595075
RCV000590856
RCV000995855
RCV001197757
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs781066087 RCV005904684
Congenital disorder of glycosylation Uncertain significance rs759775801, rs886058708, rs886058711 RCV000395781
RCV000348424
RCV000260052
Malignant tumor of esophagus Benign rs73088350 RCV005923673
Ovarian serous cystadenocarcinoma Likely benign rs1237912785 RCV005906632
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Congenital Disorders of Glycosylation Associate 18313027, 19701946, 36579437
Gerstmann Straussler Scheinker Disease Associate 36579437
Hearing Loss Sensorineural Associate 19701946