Xylosyl- and glucuronyltransferase LARGE1

Summary
UniProt ID
O95461
Gene Symbol
  • LARGE1
  • KIAA0609
  • LARGE
Organism
Homo sapiens (human)
External Links
GlyGen
O95461
PubChem
O95461
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)
Sequence
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
Glycosylation Sites
Displaying all 4 entries
Position Description PubMed ID GlyTouCan ID Source
97 N-linked (GlcNAc...) asparagine
122 N-linked (GlcNAc...) asparagine
148 N-linked (GlcNAc...) asparagine
272 N-linked (GlcNAc...) asparagine
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 2 entries
Pathway Name Organism
Defective LARGE causes MDDGA6 and MDDGB6 Homo sapiens
O-linked glycosylation Homo sapiens
Disease
Displaying entries 1 - 10 of 172 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050572 cone-rod dystrophy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050777 Joubert syndrome
DOID:0060249 scoliosis
DOID:0060250 idiopathic scoliosis
DOID:0060255 rippling muscle disease 2

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024