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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Summary
- UniProt ID
- Q9Y672
- Gene Symbol
-
- ALG6
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q9Y672
- The Human Metabolome Database
- HMDBP09187
Annotation
- Keyword
-
- Congenital disorder of glycosylation
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Reference proteome
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| protein N-linked glycosylation |
| dolichol-linked oligosaccharide biosynthetic process |
| oligosaccharide-lipid intermediate biosynthetic process |
| GO Term |
|---|
| membrane |
| endoplasmic reticulum membrane |
Sequence
MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNSSDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKSFSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFNIIIMWDSKSGRNQKKIS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 59 | N-linked (GlcNAc...) asparagine |
|
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 ALG6 causes CDG-1c | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0080552 | congenital disorder of glycosylation Ia | |
| DOID:0080555 | congenital disorder of glycosylation Ic | |
| DOID:11832 | visual epilepsy | |
| DOID:1826 | epilepsy | |
| DOID:2451 | protein S deficiency | |
| DOID:2452 | thrombophilia | |
| DOID:3755 | antithrombin III deficiency | |
| DOID:3756 | protein C deficiency | |
| DOID:5212 | congenital disorder of glycosylation |
