RFT1 Gene Summary [Human]
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 gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | RFT1 |
| Official Name | RFT1 homolog [Source:HGNC Symbol;Acc:HGNC:30220] |
| Ensembl ID | ENSG00000163933 |
| Bio databases IDs | |
| Aliases | RFT1 homolog, congenital disorder of glycosylation 1N |
| Synonyms | CDG1N, D930025H04, LOC285398, RFT1 glycolipid translocator homolog, RFT1 homolog, RGD1562654 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RFT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- Multidrug and toxic compound extrusion family and similar proteins
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital disorder of glycosylation type 1N
- pervasive developmental disorder
- non-insulin-dependent diabetes mellitus
- Crohn disease
- multiple sclerosis
- metabolic syndrome X
regulated by
- myoblasts
regulates
- oligosaccharide-diphosphodolichol
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein N-linked glycosylation
- glycolipid translocation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- glycolipid-translocating activity