Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
| DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| DOID:0110640 | congenital muscular dystrophy due to LMNA mutation | |
| DOID:0110881 | holoprosencephaly 1 | |
| DOID:0111192 | facioscapulohumeral muscular dystrophy 1 | |
| DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | |
| DOID:0111242 | congenital muscular dystrophy-dystroglycanopathy type A6 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:0111531 | bilateral optic nerve hypoplasia | |
| DOID:1029 | familial periodic paralysis |
