RFT1
RFT1 Homolog, N-Glycosylation Pathway Component
Gene Information Card
| Symbol | RFT1 |
|---|---|
| Full Name | RFT1 Homolog, N-Glycosylation Pathway Component |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 91869 ncbi.nlm.nih.gov/gene/91869 |
| Ensembl ID | ENSG00000163933 |
| UniProt ID | Q96AA3 |
| OMIM ID | 612908 |
| HGNC ID | 30220 |
| Aliases | CDG In, RFT1, MGC13170 |
Description
The RFT1 gene encodes a transmembrane protein that functions as a flippase, translocating dolichol phosphate mannose (Dol-P-Man) from the cytoplasmic to the luminal side of the endoplasmic reticulum. This step is essential for the biosynthesis of lipid-linked oligosaccharides (LLOs) required for N-glycosylation. Mutations in RFT1 cause congenital disorder of glycosylation type In (CDG In), characterized by defective LLO assembly and multisystemic clinical features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type In (CDG In) | Defective flippase activity leads to accumulation of Dol-P-Man on the cytoplasmic side, impairing LLO assembly and N-glycosylation. | OMIM #612908; ClinVar; multiple case reports (e.g., Haeuptle et al., 2008) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Kidney | 10.1 | Medium |
| Heart | 6.5 | Low |
| Lung | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 13.0 | High expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199C>T (p.Arg67Trp) | Missense | Rare | Loss of flippase activity; associated with CDG In |
| c.545A>G (p.Asn182Ser) | Missense | Rare | Impaired protein stability and function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most RFT1 mutations are loss-of-function, reducing or abolishing flippase activity, leading to CDG In.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein N-linked glycosylation (GO:0006487) | • endoplasmic reticulum membrane (GO:0005789) |
| • integral component of membrane (GO:0016021) | • dolichol phosphate mannose flippase activity (GO:0002098) |
Pathways
• REACT_21300 – N-glycan biosynthesis
• REACT_17015 – Metabolism of proteins
• REACT_14797 – Post-translational protein modification
Protein Summary
RFT1 is a 541-amino acid multi-pass transmembrane protein localized to the endoplasmic reticulum membrane. It acts as a flippase that translocates Dol-P-Man from the cytoplasmic to the luminal leaflet, a critical step in the assembly of the LLO precursor for N-glycosylation. Deficiency leads to incomplete LLO synthesis and congenital disorder of glycosylation type In.
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