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Details on Person UniProt:Q96F25 ALG14

Class:Id	ReferenceGeneProduct:218403
_chainChangeLog	chain:1-216 added on Fri February 6 2015
_displayName	UniProt:Q96F25 ALG14
_timestamp	2024-11-03 20:08:47
chain	chain:1-216
checksum	0724FEAE33A841E8
comment	FUNCTION Part of the UDP-N-acetylglucosamine transferase complex 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 oligosaccharides are transferred from the lipid to nascent proteins by oligosaccharyltransferases. Functions as a protein-membrane adapter recruiting ALG13 at the cytoplasmic face of the endoplasmic reticulum, where the complex catalyzes the second step of dolichol pyrophosphate biosynthesis, transferring a beta1,4-linked N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to GlcNAc-pyrophosphatedolichol (Gn-PDol) to produce N,N'-diacetylchitobiosyl diphosphodolichol. N,N'-diacetylchitobiosyl diphosphodolichol is a substrate for ALG1, the following enzyme in the biosynthetic pathway.SUBUNIT Forms with ALG13 the active heterodimeric UDP-N-acetylglucosamine transferase complex.SUBCELLULAR LOCATION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ALG14 family.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
description	recommendedName: fullName evidence="9"UDP-N-acetylglucosamine transferase subunit ALG14 alternativeName: fullName evidence="10"Asparagine-linked glycosylation 14 homolog
geneName	ALG14
identifier	Q96F25
isSequenceChanged	FALSE
keyword	Congenital myasthenic syndrome Disease variant Endoplasmic reticulum Epilepsy Intellectual disability Membrane Neurodegeneration Proteomics identification Reference proteome 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	ALG14
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8992882] ENSEMBL:ENSG00000172339 ALG14 [Homo sapiens]
secondaryIdentifier	ALG14_HUMAN A8K030
sequenceLength	216
species	[Species:48887] Homo sapiens
(referenceEntity)	[EntityWithAccessionedSequence:449266] ALG14 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5633218] ALG14 P65L [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5633229] ALG14 R104* [endoplasmic reticulum membrane] [Homo sapiens]
(referenceSequence)	[NonsenseMutation:5633216] Nonsense mutation at L-arginine 104 [ReplacedResidue:5633242] L-proline 65 replaced with L-leucine
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No pathways have been reviewed or authored by UniProt:Q96F25 ALG14 (218403)