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Details on Person UniProt:Q96AA3 RFT1
| Class:Id | ReferenceGeneProduct:245386 |
|---|---|
| _chainChangeLog | chain:1-541 added on Fri February 6 2015 |
| _displayName | UniProt:Q96AA3 RFT1 |
| _timestamp | 2024-11-03 20:11:45 |
| chain | chain:1-541 |
| checksum | 2988BA1A2EB769E0 |
| comment | 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 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).PATHWAY Protein modification; protein glycosylation.INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the RFT1 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="6"Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 alternativeName: fullName evidence="7"Protein RFT1 homolog |
| geneName | RFT1 |
| identifier | Q96AA3 |
| isSequenceChanged | FALSE |
| keyword | Congenital disorder of glycosylation Disease variant Endoplasmic reticulum Membrane Proteomics identification Reference proteome Sugar transport Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | RFT1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997397] ENSEMBL:ENSG00000163933 RFT1 [Homo sapiens] |
| secondaryIdentifier | RFT1_HUMAN Q96J03 |
| sequenceLength | 541 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:449255] RFT1 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570578] RFT1 R67C [endoplasmic reticulum membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:4570566] L-asparagine 67 replaced with L-cysteine |
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No pathways have been reviewed or authored by UniProt:Q96AA3 RFT1 (245386)
