Reactome | UniProt:Q9Y672 ALG6

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UniProt:Q9Y672 ALG6 Show undefined attributes

chain	chain:1-507
checksum	8BAC4BA9B8E366B9
comment	FUNCTION Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase 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. In the lumen of the endoplasmic reticulum, adds the first glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Man(9)GlcNAc(2)-PP-Dol to produce Glc(1)Man(9)GlcNAc(2)-PP-Dol. Glc(1)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG8, the following enzyme in the biosynthetic pathway.CATALYTIC ACTIVITY an alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl beta-D-glucosyl phosphate = an alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl phosphate + H(+)PATHWAY Protein modification; protein glycosylation.SUBCELLULAR LOCATION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ALG6/ALG8 glucosyltransferase family.
crossReference	[DatabaseIdentifier:12437883] RefSeq:NP_037471.2 [DatabaseIdentifier:12279440] Pharos - Targets:Q9Y672 [DatabaseIdentifier:12257686] PRO:Q9Y672 [DatabaseIdentifier:12134837] Orphanet:ALG6 [DatabaseIdentifier:12119098] OpenTargets:ENSG00000088035 [DatabaseIdentifier:11834652] HPA:ENSG00000088035-ALG6 [DatabaseIdentifier:11828977] HMDB Protein:HMDBP09187 [DatabaseIdentifier:11781524] GeneCards:ALG6 [DatabaseIdentifier:11738960] ENSEMBL:ENST00000263440 [DatabaseIdentifier:11616261] ENSEMBL:ENSP00000263440 [DatabaseIdentifier:11504301] ENSEMBL:ENSG00000088035
databaseName	UniProt
dbId	49886
description	recommendedName: fullName evidence="13"Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase ecNumber evidence="2 11"2.4.1.267 alternativeName: fullName evidence="14"Asparagine-linked glycosylation protein 6 homolog alternativeName: Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase alternativeName: Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
displayName	UniProt:Q9Y672 ALG6
geneName	ALG6 My046
identifier	Q9Y672
isSequenceChanged	false
keyword	Congenital disorder of glycosylation Disease variant Endoplasmic reticulum Glycoprotein Glycosyltransferase Membrane Proteomics identification Reference proteome Transferase Transmembrane Transmembrane helix
modified	[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType	Protein
name	ALG6
otherIdentifier	11723990_at 11723991_a_at 11751023_a_at 16665512 219649_PM_at 219649_at 2339681 2339683 2339684 2339685 2339686 2339687 2339690 2339694 2339695 2339696 2339697 2339699 2339700 2339701 2339703 2339704 2339705 2339706 2339708 2339709 2339710 2339711 2339712 2339713 2339714 2339715 2339716 2339717 2339719 29929 52733_at 52735_g_at 70182_at 7901915 88210_at A_14_P105676 A_14_P112481 A_23_P35168 GE58524 GO:0004583 GO:0005515 GO:0005783 GO:0005789 GO:0006486 GO:0006487 GO:0006488 GO:0016020 GO:0016740 GO:0016757 GO:0016758 GO:0042281 GO:0046527 GO:0098553 GO:1901135 HMNXSV003025949 HMNXSV003030730 ILMN_1771411 PH_hs_0029002 TC01000719.hg g7019324_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-4724295] ALG6 A333V [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4724296] ALG6 S478P [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-449645] ALG6 [endoplasmic reticulum membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12705061] UCSC:Q9Y672 ALG6 [ReferenceDNASequence:12105030] OMIM:604566 ALG6 [ReferenceDNASequence:12083792] NCBI Gene:29929 ALG6 [ReferenceDNASequence:11999699] Monarch:29929 ALG6 [ReferenceDNASequence:11908087] KEGG:hsa:29929 ALG6 [ReferenceDNASequence:11813124] HGNC:23157 ALG6 [ReferenceDNASequence:11431162] dbSNP Gene:29929 ALG6 [ReferenceDNASequence:11404628] CTD Gene:29929 ALG6 [ReferenceDNASequence:11394994] COSMIC - genes:ALG6 ALG6 [ReferenceDNASequence:11369910] BioGPS Gene:29929 ALG6 [ReferenceDNASequence:ensembl:ENSG00000088035] ENSEMBL:ENSG00000088035 ALG6
referenceTranscript	[ReferenceRNASequence:12619400] RefSeq:NM_013339.3 ALG6
schemaClass	ReferenceGeneProduct
secondaryIdentifier	ALG6_HUMAN B3KMU2 Q5SXR9 Q9H3I0
sequenceLength	507
species	[Species:48887] Homo sapiens
stId	uniprot:Q9Y672
url	http://purl.uniprot.org/uniprot/Q9Y672

Referrals

(interactor)	[UndirectedInteraction:11204237] UniProt:Q9Y672 <-> UniProt:Q9BVK2 (IntAct) [UndirectedInteraction:11204235] UniProt:Q9Y672 <-> UniProt:P16444 (IntAct) [UndirectedInteraction:11204233] UniProt:Q9Y672 <-> UniProt:Q9NY72 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-4724295] ALG6 A333V [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-4724296] ALG6 S478P [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-449645] ALG6 [endoplasmic reticulum membrane]
(referenceSequence)	[ReplacedResidue:4724293] L-alanine 333 replaced with L-valine [ReplacedResidue:4724299] L-serine 478 replaced with L-proline