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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Xylosyl- and glucuronyltransferase LARGE2
Summary
- UniProt ID
- Q8N3Y3
- Gene Symbol
-
- LARGE2
- GYLTL1B
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0012388
- GlyConnect
- GlyGen
- Q8N3Y3
- PubChem
- Q8N3Y3
Annotation
- Keyword
-
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Manganese
- Metal-binding
- Multifunctional enzyme
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| muscle cell cellular homeostasis |
| protein O-linked glycosylation |
| protein O-linked mannosylation |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| GO Term |
|---|
| manganese ion binding |
| UDP-xylosyltransferase activity |
| glucuronosyltransferase activity |
| xylosyltransferase activity |
Sequence
MLPRGRPRALGAAALLLLLLLLGFLLFGGDLGCERREPGGRAGAPGCFPGPLMPRVPPDGRLRRAAALDGDPGAGPGDHNRSDCGPQPPPPPKCELLHVAIVCAGHNSSRDVITLVKSMLFYRKNPLHLHLVTDAVARNILETLFHTWMVPAVRVSFYHADQLKPQVSWIPNKHYSGLYGLMKLVLPSALPAELARVIVLDTDVTFASDISELWALFAHFSDTQAIGLVENQSDWYLGNLWKNHRPWPALGRGFNTGVILLRLDRLRQAGWEQMWRLTARRELLSLPATSLADQDIFNAVIKEHPGLVQRLPCVWNVQLSDHTLAERCYSEASDLKVIHWNSPKKLRVKNKHVEFFRNFYLTFLEYDGNLLRRELFVCPSQPPPGAEQLQQALAQLDEEDPCFEFRQQQLTVHRVHVTFLPHEPPPPRPHDVTLVAQLSMDRLQMLEALCRHWPGPMSLALYLTDAEAQQFLHFVEASPVLAARQDVAYHVVYREGPLYPVNQLRNVALAQALTPYVFLSDIDFLPAYSLYDYLRASIEQLGLGSRRKAALVVPAFETLRYRFSFPHSKVELLALLDAGTLYTFRYHEWPRGHAPTDYARWREAQAPYRVQWAANYEPYVVVPRDCPRYDPRFVGFGWNKVAHIVELDAQEYELLVLPEAFTIHLPHAPSLDISRFRSSPTYRDCLQALKDEFHQDLSRHHGAAALKYLPALQQPQSPARG
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 80 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| O-linked glycosylation | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
| DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
| DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C |
