Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91869
Gene name Gene Name - the full gene name approved by the HGNC.
RFT1 glycolipid translocator homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RFT1
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1N, SLC76A1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1N
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0006488 Process Dolichol-linked oligosaccharide biosynthetic process IEA
GO:0008643 Process Carbohydrate transport IEA
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611908 30220 ENSG00000163933
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Congenital disorder of glycosylation Congenital Disorder Of Glycosylation, Type In, RFT1-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
18313027, 23111317, 27604308, 19701946
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 28067908 ClinVar
Diabetes Diabetes GWAS
Anxiety Disorder Anxiety Disorder GWAS
Crohn Disease Crohn Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Congenital Disorders of Glycosylation Associate 18313027, 19701946, 36579437
Gerstmann Straussler Scheinker Disease Associate 36579437
Hearing Loss Sensorineural Associate 19701946