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Details on Person UniProt:O95461 LARGE1

Class:Id	ReferenceGeneProduct:58399
_chainChangeLog	chain:1-756 added on Fri February 6 2015
_displayName	UniProt:O95461 LARGE1
_timestamp	2025-02-21 18:48:17
chain	chain:1-756
checksum	B022E118379AA17C
comment	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).CATALYTIC ACTIVITY 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-xylose = 3-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 + H(+)CATALYTIC ACTIVITY 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 = 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 + H(+)CATALYTIC ACTIVITY 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-xylose = 3-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 + H(+)COFACTOR Binds 2 Mn(2+) ions per subunit. The xylosyltransferase part binds one Mn(2+) and the beta-1,3-glucuronyltransferase part binds one Mn(2+).BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is 5 for xylosyltransferase activity. Optimum pH is from 5.5 to 8.0 for Beta-1,3-glucuronyltransferase activity.PATHWAY Protein modification; protein glycosylation.SUBUNIT Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin (By similarity). Interacts with B4GAT1 (PubMed:19587235).INTERACTION Ubiquitous. Highest expression in heart, brain and skeletal muscle.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY In the C-terminal section; belongs to the glycosyltransferase 49 family.SIMILARITY In the N-terminal section; belongs to the glycosyltransferase 8 family.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION Glycosyltransferase-like protein LARGE1
description	recommendedName: fullName evidence="20"Xylosyl- and glucuronyltransferase LARGE1 ecNumber evidence="12"2.4.-.- alternativeName: Acetylglucosaminyltransferase-like 1A alternativeName: Glycosyltransferase-like protein alternativeName: fullName evidence="26"LARGE xylosyl- and glucuronyltransferase 1 domain recommendedName: fullName evidence="20"Alpha-1,3-xylosyltransferase LARGE1 ecNumber evidence="12"2.4.2.- /domain domain recommendedName: fullName evidence="20"Beta-1,3-glucuronyltransferase LARGE1 ecNumber evidence="12 16 17"2.4.1.- /domain
geneName	LARGE1 KIAA0609 LARGE
identifier	O95461
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Coiled coil Congenital muscular dystrophy Disease variant Dystroglycanopathy Glycoprotein Glycosyltransferase Golgi apparatus Lissencephaly Manganese Membrane Metal-binding Multifunctional enzyme Proteomics identification Reference proteome Signal-anchor Transferase Transmembrane Transmembrane helix
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
name	LARGE1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8997788] ENSEMBL:ENSG00000133424 LARGE1 [Homo sapiens]
secondaryIdentifier	LARG1_HUMAN B0QXZ7 O60348 Q17R80 Q9UGD1 Q9UGE7 Q9UGG3 Q9UGZ8 Q9UH22
sequenceLength	756
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:234816] UniProt:O95461-2 LARGE1 [Homo sapiens] [ReferenceIsoform:402150] UniProt:O95461-1 LARGE1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:5617141] LARGE1 [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6785675] LARGE S331F [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6785678] LARGE E509K [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6785679] LARGE E669Gfs*26 [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6785683] LARGE W495R [Golgi membrane] [Homo sapiens]
(referenceSequence)	[ReplacedResidue:6785676] L-serine 331 replaced with L-phenylalanine [FragmentReplacedModification:6785681] Replacement of residues 669 to 693 by GVRPEVCRLWLEQSGSYHGAGCAGV [ReplacedResidue:6785682] L-glutamic acid 509 replaced with L-lysine [ReplacedResidue:6785684] L-tryptophan 495 replaced with L-arginine
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No pathways have been reviewed or authored by UniProt:O95461 LARGE1 (58399)