LARGE
entrez
9215
canonical
uniprot
O95461
canonical
ensembl
ENSG00000133424
resolver
ensp
ENSP00000347088
resolver
ensp
ENSP00000380549
resolver
ensp
ENSP00000385223
resolver
ensp
ENSP00000415546
resolver
ensp
ENSP00000476364
resolver
ensp
ENSP00000501941
resolver
ensp
ENSP00000502152
resolver
ensp
ENSP00000502238
resolver
ensp
ENSP00000502772
resolver
ensp
ENSP00000569847
resolver
ensp
ENSP00000581740
resolver
ensp
ENSP00000636089
resolver
ensp
ENSP00000636094
resolver
ensp
ENSP00000723569
resolver
ensp
ENSP00000782023
resolver
enst
ENST00000610186
resolver
enst
ENST00000674780
resolver
enst
ENST00000674789
resolver
enst
ENST00000911681
resolver
enst
ENST00000966030
resolver
genesymbol
LARGE
resolver
genesymbol
LARGE1
resolver
genesymbol_syn
KIAA0609
resolver
genesymbol_syn
LARGE
resolver
hgnc
HGNC:6511
resolver
uniprot
A0A6Q8PFT0
resolver
uniprot
A0A6Q8PHK1
resolver
uniprot
B0QXZ7
resolver
uniprot
O60348
resolver
uniprot
Q17R80
resolver
uniprot
Q9UGD1
resolver
uniprot
Q9UGE7
resolver
uniprot
Q9UGG3
resolver
uniprot
Q9UGZ8
resolver
uniprot
Q9UH22
resolver
uniprot
V9GY39
resolver
uniprot
X5DR28
resolver
uniprot_entry
A0A6Q8PFT0_HUMAN
resolver
uniprot_entry
A0A6Q8PHK1_HUMAN
resolver
uniprot_entry
LARG1_HUMAN
resolver
uniprot_entry
V9GY39_HUMAN
resolver
uniprot_entry
X5DR28_HUMAN
resolver
uniprot_sec
B0QXZ7
resolver
uniprot_sec
O60348
resolver
uniprot_sec
Q17R80
resolver
uniprot_sec
Q9UGD1
resolver
uniprot_sec
Q9UGE7
resolver
uniprot_sec
Q9UGG3
resolver
uniprot_sec
Q9UGZ8
resolver
uniprot_sec
Q9UH22
resolver
amino_acid_sequence
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6 (MDDGB6) [MIM:608840]: A congenital muscular dystrophy associated with profound intellectual disability, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. {ECO:0000269|PubMed:12966029}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:19067344, ECO:0000269|PubMed:19299310, ECO:0000269|PubMed:24709677}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.-.-
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
ec_number
2.4.2.-
uniprot
proteins
function
FUNCTION: Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity (PubMed:15661757, PubMed:15752776, PubMed:21987822, PubMed:22223806, PubMed:23125099, PubMed:25279697, PubMed:25279699). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:22223806, PubMed:23125099, PubMed:25138275, PubMed:25279697, PubMed:25279699, PubMed:32975514). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:21987822). Plays a key role in skeletal muscle function and regeneration (By similarity). {ECO:0000250|UniProtKB:Q9Z1M7, ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15752776, ECO:0000269|PubMed:21987822, ECO:0000269|PubMed:22223806, ECO:0000269|PubMed:23125099, ECO:0000269|PubMed:25138275, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:32975514}.
uniprot
proteins
mass_dalton
88066
uniprot
proteins
mutagenesis
MUTAGEN 242..244; /note="DTD->NNN: Loss of function, but does not abolish subcellular location."; /evidence="ECO:0000269|PubMed:15661757"; MUTAGEN 242..244; /note="DTD->NTN: Glucuronyltransferase activity is present while xylosyltransferase activity is abolished."; /evidence="ECO:0000269|PubMed:22223806"; MUTAGEN 334..336; /note="DQD->NNN: Loss of function, but does not abolish subcellular location."; /evidence="ECO:0000269|PubMed:15661757"; MUTAGEN 563..565; /note="DID->NIN: Xylosyltransferase activity is present while glucuronyltransferase activity is abolished."; /evidence="ECO:0000269|PubMed:22223806"; MUTAGEN 563..565; /note="DID->NNN: Loss of function and abolishes subcellular location."; /evidence="ECO:0000269|PubMed:15661757
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699}.
uniprot
proteins
protein_family
Glycosyltransferase 49 family; Glycosyltransferase 8 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12966029
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15661757
uniprot
proteins
pubmed
15752776
uniprot
proteins
pubmed
15958417
uniprot
proteins
pubmed
19067344
uniprot
proteins
pubmed
19299310
uniprot
proteins
pubmed
19587235
uniprot
proteins
pubmed
21987822
uniprot
proteins
pubmed
22223806
uniprot
proteins
pubmed
23125099
uniprot
proteins
pubmed
24709677
uniprot
proteins
pubmed
25138275
uniprot
proteins
pubmed
25279697
uniprot
proteins
pubmed
25279699
uniprot
proteins
pubmed
32975514
uniprot
proteins
pubmed
9628581
uniprot
proteins
pubmed
9892679
uniprot
proteins
sequence_length
756
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins