Large1
entrez
16795
canonical
uniprot
Q9Z1M7
canonical
ensembl
ENSMUSG00000004383
resolver
ensp
ENSMUSP00000004497
resolver
ensp
ENSMUSP00000112617
resolver
ensp
ENSMUSP00000148336
resolver
enst
ENSMUST00000004497
resolver
enst
ENSMUST00000119826
resolver
enst
ENSMUST00000212459
resolver
genesymbol
Large1
resolver
genesymbol_syn
Kiaa0609
resolver
genesymbol_syn
Large
resolver
uniprot
Q059X9
resolver
uniprot
Q497S9
resolver
uniprot
Q6P7U2
resolver
uniprot
Q80TW0
resolver
uniprot_entry
LARG1_MOUSE
resolver
uniprot_entry
Q059X9_MOUSE
resolver
uniprot_sec
Q497S9
resolver
uniprot_sec
Q6P7U2
resolver
uniprot_sec
Q80TW0
resolver
amino_acid_sequence
MLGICRGRRKFLAASLTLLCIPAITWIYLFAGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRVREVEEENRALRRQLSLAQGQSPAHHRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPAVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSETDVNNENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEFEPSADNTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRQNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYQVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDAQEYEFTVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Large are the cause of myodystrophy (myd), an autosomal recessive neuromuscular phenotype, probably due to abnormal post-translational modification of alpha-dystroglycan. {ECO:0000269|PubMed:15958417}.
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:23125099, PubMed:23135544, PubMed:25138275, PubMed:32975514). 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 (By similarity). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:32975514). Plays a key role in skeletal muscle function and regeneration (PubMed:15184894, PubMed:24132234). {ECO:0000250|UniProtKB:O95461, ECO:0000269|PubMed:15184894, ECO:0000269|PubMed:23125099, ECO:0000269|PubMed:23135544, ECO:0000269|PubMed:24132234, ECO:0000269|PubMed:25138275, ECO:0000269|PubMed:32975514}.
uniprot
proteins
mass_dalton
87964
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:15184894, ECO:0000269|PubMed:24132234}.
uniprot
proteins
protein_family
Glycosyltransferase 49 family; Glycosyltransferase 8 family
uniprot
proteins
pubmed
11381262
uniprot
proteins
pubmed
12693553
uniprot
proteins
pubmed
15184894
uniprot
proteins
pubmed
15210115
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15958417
uniprot
proteins
pubmed
23125099
uniprot
proteins
pubmed
23135544
uniprot
proteins
pubmed
24132234
uniprot
proteins
pubmed
25138275
uniprot
proteins
pubmed
32975514
uniprot
proteins
pubmed
9892679
uniprot
proteins
sequence_length
756
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:O95461}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O95461}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins