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UDP-N-acetylglucosamine transferase subunit ALG13
Summary
- UniProt ID
- Q9NP73
- Gene Symbol
-
- ALG13
- CXorf45
- GLT28D1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9NP73
- PubChem
- Q9NP73
- The Human Metabolome Database
- HMDBP11564
- The O-GlcNAc Database
- Q9NP73
- RaftProt
- Q9NP73
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- Glycosyltransferase
- Membrane
- Multifunctional enzyme
- Reference proteome
- Thiol protease
- Ubl conjugation pathway
- Gene Ontology (GO)
| GO Term |
|---|
| proteolysis |
| dolichol-linked oligosaccharide biosynthetic process |
| GO Term |
|---|
| UDP-N-acetylglucosamine transferase complex |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| RNA binding |
| N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity |
| cysteine-type deubiquitinase activity |
Sequence
MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDVYRYKDSLKEDIQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEGHLFYCTCRVLTCPGQAKSIASAPGKCQDSAALTSTAFSGLDFGLLSGYLHKQALVTATHPTCTLLFPSCHAFFPLPLTPTLYKMHKGWKNYCSQKSLNEASMDEYLGSLGLFRKLTAKDASCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYVEGSFEKYLERLGDPKESAGQLEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVYSKQFQSSAAVCQAVLYEILYKDVFVVDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEEWGACYNAENIPEGYNKGTEETKSPENPSKMPFPYKVLKALDPEIYRNVEFDVWLDSRKELQKSDYMEYAGRQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVTVFIEELAEKHVVPLANLKPVTQVMSVPAWNAMPSRKGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYMTMAYGKGDPLLPPRLQHSMHYGHDPPMHYSQTAGNVMSNEHFHPQHPSPRQGRGYGMPRNSSRFINRHNMPGPKVDFYPGPGKRCCQSYDNFSYRSRSFRRSHRQMSCVNKESQYGFTPGNGQMPRGLEETITFYEVEEGDETAYPTLPNHGGPSTMVPATSGYCVGRRGHSSGKQTLNLEEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRKSCSMSPQDTVTSYNYPQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVIASPSYPCHSAIPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPPLPPPPYSCDPSGSDLPQDTKVLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYTEPPLVDQTVPQCYSEVRREDGIQAEASANDTFPNADSSSVPHGAVYYPVMSDPYGQPPLPGFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPIGCIAPSPPASHYVPQGM
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | Homo sapiens |
| Defective ALG14 causes ALG14-CMS | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050336 | hypophosphatemia | |
| DOID:0050562 | West syndrome | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050776 | non-syndromic X-linked intellectual disability | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0080470 | developmental and epileptic encephalopathy 36 | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:1094 | attention deficit hyperactivity disorder |
