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MIRAGE
Xylosyl- and glucuronyltransferase LARGE1
Summary
- UniProt ID
- O95461
- Gene Symbol
-
- KIAA0609
- LARGE
- LARGE1
- Gene ID
- 9215
- 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 |
|---|
| plasma membrane |
| neuromuscular junction |
| protein-containing complex |
| Golgi membrane |
| Golgi apparatus |
| GO Term |
|---|
| bone development |
| gene expression |
| blood vessel development |
| neuron migration |
| protein glycosylation |
| protein O-linked glycosylation |
| water transport |
| intracellular protein transport |
| striated muscle contraction |
| plasma membrane organization |
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:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
| DOID:0111242 | congenital muscular dystrophy-dystroglycanopathy type A6 |
