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Entry version 135 (16 Oct 2019)
Sequence version 2 (01 May 2007)
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Protein

LARGE xylosyl- and glucuronyltransferase 2

Gene

LARGE2

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). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.3 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.3 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 <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi201Manganese 11 Publication1
Metal bindingi203Manganese 11 Publication1
Metal bindingi521Manganese 21 Publication1
Metal bindingi523Manganese 21 Publication1

<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

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

More...
BioCyci
MetaCyc:ENSG00000165905-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
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 2Imported (EC:2.4.-.-)
Alternative name(s):
Glycosyltransferase-like 1B
Including the following 2 domains:
Xylosyltransferase LARGE2Curated (EC:2.4.2.-)
Beta-1,3-glucuronyltransferase LARGE2Curated (EC:2.4.1.-)
<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:LARGE2Imported
Synonyms:GYLTL1B
ORF Names:PP5656
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16522 LARGE2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609709 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N3Y3

<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 & Seán O’Donoghue; 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 – 8CytoplasmicSequence analysis8
<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>Transmembranei9 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini30 – 721LumenalSequence analysisAdd BLAST692

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
120071

Open Targets

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OpenTargetsi
ENSG00000165905

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671704

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N3Y3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LARGE2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146345450

<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_00002268111 – 721LARGE xylosyl- and glucuronyltransferase 2Add BLAST721

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>Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi107N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi231N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N3Y3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N3Y3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N3Y3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N3Y3

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

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PaxDbi
Q8N3Y3

PeptideAtlas

More...
PeptideAtlasi
Q8N3Y3

PRoteomics IDEntifications database

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PRIDEi
Q8N3Y3

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71849

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1278

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N3Y3

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

More...
PhosphoSitePlusi
Q8N3Y3

<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

Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165905 Expressed in 125 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N3Y3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N3Y3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA056621

<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 B3GNT1/B4GAT1.

1 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
B4GAT1O435053EBI-2839174,EBI-6138697

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125666, 24 interactors

Database of interacting proteins

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DIPi
DIP-48923N

Protein interaction database and analysis system

More...
IntActi
Q8N3Y3, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000432869

<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>Regioni97 – 372Xylosyltransferase activityBy similarityAdd BLAST276
Regioni373 – 715Glucuronyltransferase activityBy similarityAdd BLAST343

<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

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3765 Eukaryota
ENOG410XRNY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158758

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231467

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N3Y3

KEGG Orthology (KO)

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KOi
K09668

Identification of Orthologs from Complete Genome Data

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OMAi
LPCIWNV

Database of Orthologous Groups

More...
OrthoDBi
729091at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N3Y3

TreeFam database of animal gene trees

More...
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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8N3Y3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLPRGRPRAL GAAALLLLLL LLGFLLFGGD LGCERREPGG RAGAPGCFPG
60 70 80 90 100
PLMPRVPPDG RLRRAAALDG DPGAGPGDHN RSDCGPQPPP PPKCELLHVA
110 120 130 140 150
IVCAGHNSSR DVITLVKSML FYRKNPLHLH LVTDAVARNI LETLFHTWMV
160 170 180 190 200
PAVRVSFYHA DQLKPQVSWI PNKHYSGLYG LMKLVLPSAL PAELARVIVL
210 220 230 240 250
DTDVTFASDI SELWALFAHF SDTQAIGLVE NQSDWYLGNL WKNHRPWPAL
260 270 280 290 300
GRGFNTGVIL LRLDRLRQAG WEQMWRLTAR RELLSLPATS LADQDIFNAV
310 320 330 340 350
IKEHPGLVQR LPCVWNVQLS DHTLAERCYS EASDLKVIHW NSPKKLRVKN
360 370 380 390 400
KHVEFFRNFY LTFLEYDGNL LRRELFVCPS QPPPGAEQLQ QALAQLDEED
410 420 430 440 450
PCFEFRQQQL TVHRVHVTFL PHEPPPPRPH DVTLVAQLSM DRLQMLEALC
460 470 480 490 500
RHWPGPMSLA LYLTDAEAQQ FLHFVEASPV LAARQDVAYH VVYREGPLYP
510 520 530 540 550
VNQLRNVALA QALTPYVFLS DIDFLPAYSL YDYLRASIEQ LGLGSRRKAA
560 570 580 590 600
LVVPAFETLR YRFSFPHSKV ELLALLDAGT LYTFRYHEWP RGHAPTDYAR
610 620 630 640 650
WREAQAPYRV QWAANYEPYV VVPRDCPRYD PRFVGFGWNK VAHIVELDAQ
660 670 680 690 700
EYELLVLPEA FTIHLPHAPS LDISRFRSSP TYRDCLQALK DEFHQDLSRH
710 720
HGAAALKYLP ALQQPQSPAR G
Length:721
Mass (Da):81,787
Last modified:May 1, 2007 - v2
<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:i7E9E208AAD872344
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIZ2E9PIZ2_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE2
690Annotation 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>
H0YDU6H0YDU6_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE2
109Annotation 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>
H0YDB8H0YDB8_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE2
158Annotation 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 AAG23791 differs from that shown. Reason: Frameshift.Curated
The sequence BAC03909 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti166Q → R in BAC04675 (PubMed:14702039).Curated1
Sequence conflicti398E → G in BAC03909 (PubMed:14702039).Curated1
Sequence conflicti473 – 474HF → IS in AAG23791 (PubMed:15498874).Curated2

Natural variant

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_03185437E → K1 PublicationCorresponds to variant dbSNP:rs17853729Ensembl.1
Natural variantiVAR_031855546R → W. Corresponds to variant dbSNP:rs11038713Ensembl.1
Natural variantiVAR_025518677R → C. Corresponds to variant dbSNP:rs2271851Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK092526 mRNA Translation: BAC03909.1 Sequence problems.
AK096021 mRNA Translation: BAC04675.1
AC068385 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68021.1
BC037291 mRNA Translation: AAH37291.1
AF258588 mRNA Translation: AAG23791.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS31473.1

NCBI Reference Sequences

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RefSeqi
NP_001287650.1, NM_001300721.1
NP_001287651.1, NM_001300722.1
NP_689525.3, NM_152312.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000325468; ENSP00000324570; ENSG00000165905
ENST00000401752; ENSP00000385235; ENSG00000165905
ENST00000531526; ENSP00000432869; ENSG00000165905

Database of genes from NCBI RefSeq genomes

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GeneIDi
120071

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:120071

UCSC genome browser

More...
UCSCi
uc001nbv.1 human

Keywords - Coding sequence diversityi

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 LARGE2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092526 mRNA Translation: BAC03909.1 Sequence problems.
AK096021 mRNA Translation: BAC04675.1
AC068385 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68021.1
BC037291 mRNA Translation: AAH37291.1
AF258588 mRNA Translation: AAG23791.1 Frameshift.
CCDSiCCDS31473.1
RefSeqiNP_001287650.1, NM_001300721.1
NP_001287651.1, NM_001300722.1
NP_689525.3, NM_152312.4

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi125666, 24 interactors
DIPiDIP-48923N
IntActiQ8N3Y3, 19 interactors
STRINGi9606.ENSP00000432869

Protein family/group databases

CAZyiGT49 Glycosyltransferase Family 49
GT8 Glycosyltransferase Family 8

PTM databases

GlyConnecti1278
iPTMnetiQ8N3Y3
PhosphoSitePlusiQ8N3Y3

Polymorphism and mutation databases

BioMutaiLARGE2
DMDMi146345450

Proteomic databases

EPDiQ8N3Y3
jPOSTiQ8N3Y3
MassIVEiQ8N3Y3
MaxQBiQ8N3Y3
PaxDbiQ8N3Y3
PeptideAtlasiQ8N3Y3
PRIDEiQ8N3Y3
ProteomicsDBi71849

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
120071

Genome annotation databases

EnsembliENST00000325468; ENSP00000324570; ENSG00000165905
ENST00000401752; ENSP00000385235; ENSG00000165905
ENST00000531526; ENSP00000432869; ENSG00000165905
GeneIDi120071
KEGGihsa:120071
UCSCiuc001nbv.1 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
120071
DisGeNETi120071

GeneCards: human genes, protein and diseases

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GeneCardsi
LARGE2
HGNCiHGNC:16522 LARGE2
HPAiHPA056621
MIMi609709 gene
neXtProtiNX_Q8N3Y3
OpenTargetsiENSG00000165905
PharmGKBiPA142671704

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3765 Eukaryota
ENOG410XRNY LUCA
GeneTreeiENSGT00940000158758
HOGENOMiHOG000231467
InParanoidiQ8N3Y3
KOiK09668
OMAiLPCIWNV
OrthoDBi729091at2759
PhylomeDBiQ8N3Y3
TreeFamiTF319168

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:ENSG00000165905-MONOMER
ReactomeiR-HSA-5173105 O-linked glycosylation

Miscellaneous databases

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

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GenomeRNAii
120071
PharosiQ8N3Y3

Protein Ontology

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PROi
PR:Q8N3Y3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000165905 Expressed in 125 organ(s), highest expression level in placenta
ExpressionAtlasiQ8N3Y3 baseline and differential
GenevisibleiQ8N3Y3 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
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiLARG2_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: Q8N3Y3
Secondary accession number(s): A6NN75
, Q8N8Y6, Q8NAK3, Q8WY62
<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: March 7, 2006
Last sequence update: May 1, 2007
Last modified: October 16, 2019
This is version 135 of the entry and version 2 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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