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Details on Person UniProt:Q2TAA5 ALG11
| Class:Id | ReferenceGeneProduct:218394 |
|---|---|
| _chainChangeLog | chain:1-492 added on Sat February 7 2015 |
| _displayName | UniProt:Q2TAA5 ALG11 |
| _timestamp | 2024-11-03 20:13:12 |
| chain | chain:1-492 |
| checksum | 1B3B0789030777FC |
| comment | FUNCTION GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. 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. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the fourth and fifth mannose residues to the dolichol-linked oligosaccharide chain, to produce Man(5)GlcNAc(2)-PP-dolichol core oligosaccharide (PubMed:20080937). Man(5)GlcNAc(2)-PP-dolichol is a substrate for ALG3, the following enzyme in the biosynthetic pathway (PubMed:10581255).CATALYTIC ACTIVITY an alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + 2 GDP-alpha-D-mannose = an alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + 2 GDP + 2 H(+)PATHWAY Protein modification; protein glycosylation.INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="7"GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase ecNumber evidence="4"2.4.1.131 alternativeName: Asparagine-linked glycosylation protein 11 homolog alternativeName: Glycolipid 2-alpha-mannosyltransferase |
| geneName | ALG11 GT8 |
| identifier | Q2TAA5 |
| isSequenceChanged | FALSE |
| keyword | Congenital disorder of glycosylation Disease variant Endoplasmic reticulum Glycosyltransferase Membrane Proteomics identification Reference proteome Transferase Transmembrane Transmembrane helix |
| 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 | ALG11 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991709] ENSEMBL:ENSG00000253710 ALG11 [Homo sapiens] |
| secondaryIdentifier | ALG11_HUMAN A5PLP3 B4DKW9 Q5TAN9 Q6DKI6 Q96FI7 |
| sequenceLength | 492 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:449267] ALG11 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570575] ALG11 Y279S [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570576] ALG11 E398K [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570580] ALG11 L86S [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570581] ALG11 L381S [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4570582] ALG11 Q318P [endoplasmic reticulum membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:4570565] L-glutamine 318 replaced with L-proline [ReplacedResidue:4570567] L-tyrosine 279 replaced with L-serine [ReplacedResidue:4570569] L-leucine 381 replaced with L-serine [ReplacedResidue:4570570] L-glutamic acid 398 replaced with L-lysine [ReplacedResidue:4570583] L-leucine 86 replaced with L-serine |
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No pathways have been reviewed or authored by UniProt:Q2TAA5 ALG11 (218394)
