UniProt Protein Function: | ALG14: May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER. Belongs to the ALG14 family.Protein type: Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesisChromosomal Location of Human Ortholog: 1p21.3Cellular Component: endoplasmic reticulum membraneMolecular Function: N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activityBiological Process: dolichol-linked oligosaccharide biosynthetic processDisease: Myasthenic Syndrome, Congenital, Without Tubular Aggregates |
UniProt Protein Details: | |
NCBI Summary: | This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015] |
UniProt Code: | Q96F25 |
NCBI GenInfo Identifier: | 74731649 |
NCBI Gene ID: | 199857 |
NCBI Accession: | Q96F25.1 |
UniProt Secondary Accession: | Q96F25,A8K030 |
UniProt Related Accession: | Q96F25 |
Molecular Weight: | 24,151 Da |
NCBI Full Name: | UDP-N-acetylglucosamine transferase subunit ALG14 homolog |
NCBI Synonym Full Names: | ALG14, UDP-N-acetylglucosaminyltransferase subunit |
NCBI Official Symbol: | ALG14Â Â |
NCBI Official Synonym Symbols: | CMS15Â Â |
NCBI Protein Information: | UDP-N-acetylglucosamine transferase subunit ALG14 homolog |
UniProt Protein Name: | UDP-N-acetylglucosamine transferase subunit ALG14 homolog |
UniProt Synonym Protein Names: | |
Protein Family: | UDP-N-acetylglucosamine transferase |
UniProt Gene Name: | ALG14Â Â |
UniProt Entry Name: | ALG14_HUMAN |