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Entry version 162 (13 Feb 2019)
Sequence version 1 (01 May 1999)
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Protein

LARGE xylosyl- and glucuronyltransferase 1

Gene

LARGE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).7 Publications

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 PublicationNote: Binds 2 Mn2+ ions per subunit. The xylosyltransferase part binds one Mn2+ and the beta-1,3-glucuronyltransferase part binds one Mn2+.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi242Manganese 1Curated1
Metal bindingi244Manganese 1Curated1
Metal bindingi563Manganese 2Curated1
Metal bindingi565Manganese 2Curated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • acetylglucosaminyltransferase activity Source: ProtInc
  • glucuronosyltransferase activity Source: UniProtKB
  • manganese ion binding Source: UniProtKB
  • transferase activity, transferring glycosyl groups Source: GO_Central
  • UDP-xylosyltransferase activity Source: Reactome
  • xylosyltransferase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Multifunctional enzyme, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000133424-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5083627 Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105 O-linked glycosylation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT49 Glycosyltransferase Family 49
GT8 Glycosyltransferase Family 8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
LARGE xylosyl- and glucuronyltransferase 1Imported (EC:2.4.-.-)
Alternative name(s):
Acetylglucosaminyltransferase-like 1A
Glycosyltransferase-like protein
Including the following 2 domains:
Xylosyltransferase LARGECurated (EC:2.4.2.-1 Publication)
Beta-1,3-glucuronyltransferase LARGECurated (EC:2.4.1.-3 Publications)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LARGE1Imported
Synonyms:KIAA0609, LARGE
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000133424.20

Human Gene Nomenclature Database

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HGNCi
HGNC:6511 LARGE1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603590 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95461

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 10CytoplasmicSequence analysis10
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei11 – 31Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini32 – 756LumenalSequence analysisAdd BLAST725

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.
See also OMIM:608840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019811509E → K in MDDGB6. 1 PublicationCorresponds to variant dbSNP:rs121908675EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, 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.
See also OMIM:613154
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065064331S → F in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607210EnsemblClinVar.1
Natural variantiVAR_075304443C → Y in MDDGA6. 1 Publication1
Natural variantiVAR_065065495W → R in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607209EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi242 – 244DTD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication3
Mutagenesisi242 – 244DTD → NTN: Glucuronyltransferase activity is present while xylosyltransferase activity is abolished. 1 Publication3
Mutagenesisi334 – 336DQD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication3
Mutagenesisi563 – 565DID → NIN: Xylosyltransferase activity is present while glucuronyltransferase activity is abolished. 1 Publication3
Mutagenesisi563 – 565DID → NNN: Loss of function and abolishes subcellular location. 1 Publication3

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
9215

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
LARGE1

MalaCards human disease database

More...
MalaCardsi
LARGE1
MIMi608840 phenotype
613154 phenotype

Open Targets

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OpenTargetsi
ENSG00000133424

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
370968 Congenital muscular dystrophy with intellectual disability
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30296

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2146300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LARGE1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002060601 – 756LARGE xylosyl- and glucuronyltransferase 1Add BLAST756

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi148N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95461

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95461

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O95461

PeptideAtlas

More...
PeptideAtlasi
O95461

PRoteomics IDEntifications database

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PRIDEi
O95461

ProteomicsDB human proteome resource

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ProteomicsDBi
50896
50897 [O95461-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95461

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O95461

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highest expression in heart, brain and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000133424 Expressed in 182 organ(s), highest expression level in forebrain

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95461 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95461 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin (By similarity). Interacts with B3GNT1/B4GAT1 (PubMed:19587235).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
B4GAT1O435052EBI-15792998,EBI-6138697

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114649, 11 interactors

Database of interacting proteins

More...
DIPi
DIP-48922N

Protein interaction database and analysis system

More...
IntActi
O95461, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000347088

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O95461

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O95461

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni138 – 413Xylosyltransferase activity1 PublicationAdd BLAST276
Regioni414 – 756Glucuronyltransferase activity1 PublicationAdd BLAST343

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili53 – 95Sequence analysisAdd BLAST43

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the C-terminal section; belongs to the glycosyltransferase 49 family.Curated
In the N-terminal section; belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3765 Eukaryota
ENOG410XRNY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158497

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052308

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95461

KEGG Orthology (KO)

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KOi
K09668

Identification of Orthologs from Complete Genome Data

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OMAi
WNIQLSD

Database of Orthologous Groups

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OrthoDBi
729091at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95461

TreeFam database of animal gene trees

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TreeFami
TF319168

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01501 Glyco_transf_8, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53448 SSF53448, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95461-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGICRGRRK FLAASLSLLC IPAITWIYLF SGSFEDGKPV SLSPLESQAH
60 70 80 90 100
SPRYTASSQR ERESLEVRMR EVEEENRALR RQLSLAQGRA PSHRRGNHSK
110 120 130 140 150
TYSMEEGTGD SENLRAGIVA GNSSECGQQP VVEKCETIHV AIVCAGYNAS
160 170 180 190 200
RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ ILATLFQTWM VPAVRVDFYN
210 220 230 240 250
ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV LDTDITFATD
260 270 280 290 300
IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI
310 320 330 340 350
LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY
360 370 380 390 400
QLPCFWNVQL SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL
410 420 430 440 450
YLTFLEYDGN LLRRELFGCP SEADVNSENL QKQLSELDED DLCYEFRRER
460 470 480 490 500
FTVHRTHLYF LHYEYEPAAD STDVTLVAQL SMDRLQMLEA ICKHWEGPIS
510 520 530 540 550
LALYLSDAEA QQFLRYAQGS EVLMSRHNVG YHIVYKEGQF YPVNLLRNVA
560 570 580 590 600
MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL
610 620 630 640 650
RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYR
660 670 680 690 700
VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDV QEYEFIVLPN
710 720 730 740 750
AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL

TAENNS
Length:756
Mass (Da):88,066
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB022E118379AA17C
GO
Isoform 2 (identifier: O95461-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.

Note: No experimental confirmation available.
Show »
Length:704
Mass (Da):81,846
Checksum:i9CCD42064004C7FF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QYZ9B0QYZ9_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QYZ8B0QYZ8_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QZ02B0QZ02_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QZ00B0QZ00_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QZ01B0QZ01_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QY08B0QY08_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-010
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZB85B7ZB85_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-014
325Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZB84B7ZB84_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-013
276Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0QY11B0QY11_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-012
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA25535 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01368568R → G. Corresponds to variant dbSNP:rs470035Ensembl.1
Natural variantiVAR_01368668R → P. Corresponds to variant dbSNP:rs135311Ensembl.1
Natural variantiVAR_065064331S → F in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607210EnsemblClinVar.1
Natural variantiVAR_075304443C → Y in MDDGA6. 1 Publication1
Natural variantiVAR_065065495W → R in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607209EnsemblClinVar.1
Natural variantiVAR_019811509E → K in MDDGB6. 1 PublicationCorresponds to variant dbSNP:rs121908675EnsemblClinVar.1
Natural variantiVAR_013687665R → H. Corresponds to variant dbSNP:rs1046166EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_014536378 – 429Missing in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ007583 mRNA Translation: CAA07571.1
AB011181 mRNA Translation: BAA25535.3 Different initiation.
CR456510 mRNA Translation: CAG30396.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17950.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17890.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18784.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18785.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18772.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAI18788.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAI18769.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAI18754.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAQ06856.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08281.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08801.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09323.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09434.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAQ09895.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ10763.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAQ11002.1
BC117425 mRNA Translation: AAI17426.1
BC126404 mRNA Translation: AAI26405.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13912.1 [O95461-1]

Protein sequence database of the Protein Information Resource

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PIRi
T00256

NCBI Reference Sequences

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RefSeqi
NP_004728.1, NM_004737.5 [O95461-1]
NP_598397.1, NM_133642.3 [O95461-1]
XP_005261888.1, XM_005261831.3 [O95461-1]
XP_005261889.1, XM_005261832.3 [O95461-1]
XP_011528812.1, XM_011530510.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.474667

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000354992; ENSP00000347088; ENSG00000133424 [O95461-1]
ENST00000397394; ENSP00000380549; ENSG00000133424 [O95461-1]
ENST00000402320; ENSP00000385223; ENSG00000133424 [O95461-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9215

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9215

UCSC genome browser

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UCSCi
uc010gwp.4 human [O95461-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007583 mRNA Translation: CAA07571.1
AB011181 mRNA Translation: BAA25535.3 Different initiation.
CR456510 mRNA Translation: CAG30396.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17950.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17890.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18784.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18785.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18772.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAI18788.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAI18769.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAI18754.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAQ06856.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08281.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08801.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09323.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09434.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAQ09895.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ10763.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAQ11002.1
BC117425 mRNA Translation: AAI17426.1
BC126404 mRNA Translation: AAI26405.1
CCDSiCCDS13912.1 [O95461-1]
PIRiT00256
RefSeqiNP_004728.1, NM_004737.5 [O95461-1]
NP_598397.1, NM_133642.3 [O95461-1]
XP_005261888.1, XM_005261831.3 [O95461-1]
XP_005261889.1, XM_005261832.3 [O95461-1]
XP_011528812.1, XM_011530510.2
UniGeneiHs.474667

3D structure databases

ProteinModelPortaliO95461
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114649, 11 interactors
DIPiDIP-48922N
IntActiO95461, 2 interactors
STRINGi9606.ENSP00000347088

Chemistry databases

BindingDBiO95461
ChEMBLiCHEMBL2146300

Protein family/group databases

CAZyiGT49 Glycosyltransferase Family 49
GT8 Glycosyltransferase Family 8

PTM databases

iPTMnetiO95461
PhosphoSitePlusiO95461

Polymorphism and mutation databases

BioMutaiLARGE1

Proteomic databases

EPDiO95461
jPOSTiO95461
PaxDbiO95461
PeptideAtlasiO95461
PRIDEiO95461
ProteomicsDBi50896
50897 [O95461-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9215
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354992; ENSP00000347088; ENSG00000133424 [O95461-1]
ENST00000397394; ENSP00000380549; ENSG00000133424 [O95461-1]
ENST00000402320; ENSP00000385223; ENSG00000133424 [O95461-2]
GeneIDi9215
KEGGihsa:9215
UCSCiuc010gwp.4 human [O95461-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9215
DisGeNETi9215
EuPathDBiHostDB:ENSG00000133424.20

GeneCards: human genes, protein and diseases

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GeneCardsi
LARGE1
GeneReviewsiLARGE1
HGNCiHGNC:6511 LARGE1
MalaCardsiLARGE1
MIMi603590 gene
608840 phenotype
613154 phenotype
neXtProtiNX_O95461
OpenTargetsiENSG00000133424
Orphaneti370968 Congenital muscular dystrophy with intellectual disability
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome
PharmGKBiPA30296

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3765 Eukaryota
ENOG410XRNY LUCA
GeneTreeiENSGT00940000158497
HOVERGENiHBG052308
InParanoidiO95461
KOiK09668
OMAiWNIQLSD
OrthoDBi729091at2759
PhylomeDBiO95461
TreeFamiTF319168

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:ENSG00000133424-MONOMER
ReactomeiR-HSA-5083627 Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105 O-linked glycosylation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LARGE1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LARGE

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9215

Protein Ontology

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PROi
PR:O95461

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133424 Expressed in 182 organ(s), highest expression level in forebrain
ExpressionAtlasiO95461 baseline and differential
GenevisibleiO95461 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLARG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95461
Secondary accession number(s): B0QXZ7
, O60348, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 1, 1999
Last modified: February 13, 2019
This is version 162 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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