RFT1

Chr 3p21.1

RFT1 glycolipid translocator homolog

Aliases:: CDG1N, SLC76A1
MANE:: ENST00000296292.8

OMIM: 611908 ↗NCBI: 91869 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFT1 · Q96AA3

v62025-08-01

Predicted Aligned Error matrix for RFT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

541 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)18%
Low(50–70)5%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

RFT1-congenital disorder of glycosylation
0.82
MPDU1-congenital disorder of glycosylation
0.56
ALG13-CDG
0.56
PGM1-congenital disorder of glycosylation
0.56
developmental and epileptic encephalopathy, 36
0.56
congenital disorder of glycosylation type I
0.55
congenital disorder of glycosylation
0.38
Crohn disease
0.33
neurodegenerative disease
0.28
ovarian dysfunction
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1

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)