Proteins/UNIPROT:O95461

LARGE1

ProteinUNIPROT:O95461Xylosyl- and glucuronyltransferase LARGE1

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. 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. Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer. Plays a key role in skeletal muscle function and regeneration (By similarity)..

Function from UniProtKB (O95461), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

5 rows

congenital muscular dystrophy with intellectual disability has a germline basis in LARGE1DiseaseGenCC HGNC:6511|MONDO:0018278Inferred only
muscular dystrophy-dystroglycanopathy has a germline basis in LARGE1DiseaseGenCC HGNC:6511|MONDO:0018276Inferred only
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 has a germline basis in LARGE1DiseaseGenCC HGNC:6511|MONDO:0013158Inferred only
muscular dystrophy-dystroglycanopathy type B6 has a germline basis in LARGE1DiseaseGenCC HGNC:6511|MONDO:0012138Inferred only
muscular dystrophy-dystroglycanopathy, type A has a germline basis in LARGE1DiseaseGenCC HGNC:6511|MONDO:0000171Inferred only

Statements

27 statements

27 statements · 6 reference databases · Subject: LARGE1 · Sources: Bgee, gene ontology, Hetionet, Reactome, Rhea, UniProt

Order

H2AC11; H2AC13; H2AC15; H2AC16; H2AC17 covaries with LARGE1ProteinHetionet hetionet:covaries:8332-9215Inferred only
PWWP2A covaries with LARGE1ProteinHetionet hetionet:covaries:114825-9215Inferred only
LARGE1 is expressed in heart left ventricleAnatomyBgee ENSG00000133424Inferred only
LARGE1 interacts with B4GAT1ProteinHetionet hetionet:interacts:11041-9215Inferred only
DAG1 interacts with LARGE1ProteinHetionet hetionet:interacts:1605-9215Inferred only
LARGE1 participates in DAG1 glycosylationsPathwayReactome R-HSA-8931838Inferred only
LARGE1 participates in Defective LARGE causes MDDGA6 and MDDGB6PathwayReactome R-HSA-5083627Inferred only
LARGE1 participates in DiseasePathwayReactome R-HSA-1643685Inferred only
LARGE1 participates in Diseases associated with O-glycosylation of proteinsPathwayReactome R-HSA-3906995Inferred only
LARGE1 participates in Diseases of glycosylationPathwayReactome R-HSA-3781865Inferred only
LARGE1 participates in Diseases of metabolismPathwayReactome R-HSA-5668914Inferred only
LARGE1 participates in Matriglycan biosynthesis on DAG1PathwayReactome R-HSA-9939291Inferred only

Show the remaining 15

LARGE1 participates in Metabolism of proteinsPathwayReactome R-HSA-392499Inferred only
LARGE1 participates in O-linked glycosylationPathwayReactome R-HSA-5173105Inferred only
LARGE1 participates in Post-translational protein modificationPathwayReactome R-HSA-597592Inferred only
LARGE1 regulates negative regulation of muscle cell apoptotic processBiological processgene ontology O95461|GO:0010656Inferred only
LARGE1 regulates positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionBiological processgene ontology O95461|GO:0051897Inferred only
LARGE1 regulates positive regulation of Rac protein signal transductionBiological processgene ontology O95461|GO:0035022Inferred only
LARGE1 regulates positive regulation of skeletal muscle acetylcholine-gated channel clusteringBiological processgene ontology O95461|GO:1904395Inferred only
ASL increases the expression of LARGE1ProteinHetionet hetionet:regulates:435-9215Inferred only
B4GALT3 increases the expression of LARGE1ProteinHetionet hetionet:regulates:8703-9215Inferred only
DAXX increases the expression of LARGE1ProteinHetionet hetionet:regulates:1616-9215Inferred only
ELAC2 decreases the expression of LARGE1ProteinHetionet hetionet:regulates:60528-9215Inferred only
TMEM109 increases the expression of LARGE1ProteinHetionet hetionet:regulates:79073-9215Inferred only
LARGE1 requires the cofactor Mn(2+)CompoundUniProt O95461Inferred only
UDP-alpha-D-xylose is a substrate of LARGE1CompoundRhea RHEA:68368Inferred only
UDP-alpha-D-xylose is a substrate of LARGE1CompoundRhea RHEA:57336Inferred only

Reactions

3 reactions

3-O-[beta-D-GlcA-(1->3)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein]+UDP-alpha-D-xylose3-O-[alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-(O-6-P-alpha-D-Man)]-Thr-[protein]+UDP+hydron
Catalysed by LARGE1 or LARGE2
Reaction pageLeft to rightBalance undeterminable
Rhea RHEA:57336CC BY 4.0Reference data
3-O-{(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein]+UDP-alpha-D-glucuronate

Other names

6 names

Resolves to: LARGE1

Also called: ; Beta-1,3-glucuronyltransferase LARGE1Acetylglucosaminyltransferase-like 1AGlycosyltransferase-like proteinKIAA0609LARGELARGE xylosyl- and glucuronyltransferase 1

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3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein]

+UDP

+hydron

Catalysed by LARGE1 or LARGE2

Reaction pageLeft to rightBalance undeterminable

Rhea RHEA:67924CC BY 4.0Reference data

3-O-{beta-D-GlcA-(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein]+UDP-alpha-D-xylose3-O-{(1->[3)-alpha-D-Xyl-(1->3)-beta-D-GlcA-(1->](n+1)-4)-beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man}-L-Thr-[protein]+UDP+hydron

Catalysed by LARGE1 or LARGE2

Reaction pageLeft to rightBalance undeterminable

Rhea RHEA:68368CC BY 4.0Reference data