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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 28540026
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 1s Congenital disorder of glycosylation BEFREE 19856127, 23111317, 30071302
★☆☆☆☆
Found in Text Mining only
Congenital Disorder Of Glycosylation, Type In Congenital disorder of glycosylation UNIPROT_DG 18313027, 19701946
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type In Congenital disorder of glycosylation GENOMICS_ENGLAND_DG 18313027, 23111317, 27604308
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type In Congenital disorder of glycosylation BEFREE 19701946, 23111317, 26892341
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation, Type In Congenital disorder of glycosylation CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations