ID  Q96F25;
PN  UDP-N-acetylglucosamine transferase subunit ALG14 homolog;
GN  ALG14;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P38242}; Single-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000250|UniProtKB:P38242}; Single- pass membrane protein {ECO:0000255}.
DR  UNIPROT: Q96F25;
DR  UNIPROT: A8K030;
DR  Pfam: PF08660;
DR  OMIM: 612866;
DR  OMIM: 616227;
DR  OMIM: 619031;
DR  OMIM: 619036;
DR  DisGeNET: 199857;
DE  Function: 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. {ECO:0000269|PubMed:16100110}.
DE  Disease: Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. {ECO:0000269|PubMed:23404334}. Note=The disease is caused by variants affecting the gene represented in this entry. Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF) [MIM:619031]: An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes. {ECO:0000269|PubMed:30221345}. Note=The disease may be caused by variants affecting the gene represented in this entry. Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) [MIM:619036]: An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy. {ECO:0000269|PubMed:28733338}. Note=The disease may be caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q99871; IntAct: EBI-21670231; Score: 0.35
DE  Interaction: Q9Y5Q0; IntAct: EBI-21766826; Score: 0.35
DE  Interaction: P0DTD8; IntAct: EBI-25687199; Score: 0.53
DE  Interaction: Q7TFA1; IntAct: EBI-25688644; Score: 0.35
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0031965;
GO  GO:0043541;
GO  GO:0006488;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLSNAYSPRHYVIADTDEMSANK
SQ  INSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVFTTLHSMWLSFPLIHRVKPDLVLCNGPGTCVPICVSALLLG
SQ  ILGIKKVIIVYVESICRVETLSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV
//