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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Xylosyl- and glucuronyltransferase LARGE1
Summary
- UniProt ID
- O95461
- Gene Symbol
-
- LARGE1
- KIAA0609
- LARGE
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Coiled coil
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Lissencephaly
- Manganese
- Metal-binding
- Multifunctional enzyme
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| plasma membrane |
| neuromuscular junction |
| protein-containing complex |
Sequence
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
Glycosylation Sites
G83460ZZ
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective LARGE causes MDDGA6 and MDDGB6 | Homo sapiens |
| O-linked glycosylation | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1037 | lymphoid leukemia | |
| DOID:10488 | imperforate anus | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:1059 | intellectual disability | |
| DOID:10629 | microphthalmia | |
| DOID:1088 | meningocele | |
| DOID:10907 | microcephaly | |
| DOID:10908 | hydrocephalus | |
| DOID:11105 | fundus albipunctatus | |
| DOID:11211 | buphthalmos |
