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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-Experimental evidence at protein leveli

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

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

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
Metal bindingi201Manganese 11 Publication1
Metal bindingi203Manganese 11 Publication1
Metal bindingi521Manganese 21 Publication1
Metal bindingi523Manganese 21 Publication1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5173105. O-linked glycosylation.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

Names & Taxonomyi

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.-)
Gene namesi
Name:LARGE2Imported
Synonyms:GYLTL1B
ORF Names:PP5656
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:16522. LARGE2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 8CytoplasmicSequence analysis8
Transmembranei9 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini30 – 721LumenalSequence analysisAdd BLAST692

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi120071.
OpenTargetsiENSG00000165905.
PharmGKBiPA142671704.

Polymorphism and mutation databases

BioMutaiGYLTL1B.
DMDMi146345450.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002268111 – 721LARGE xylosyl- and glucuronyltransferase 2Add BLAST721

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi80N-linked (GlcNAc...)Sequence analysis1
Glycosylationi107N-linked (GlcNAc...)Sequence analysis1
Glycosylationi231N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N3Y3.
MaxQBiQ8N3Y3.
PaxDbiQ8N3Y3.
PeptideAtlasiQ8N3Y3.
PRIDEiQ8N3Y3.

PTM databases

iPTMnetiQ8N3Y3.
PhosphoSitePlusiQ8N3Y3.

Expressioni

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

BgeeiENSG00000165905.
CleanExiHS_GYLTL1B.
ExpressionAtlasiQ8N3Y3. baseline and differential.
GenevisibleiQ8N3Y3. HS.

Organism-specific databases

HPAiHPA056621.

Interactioni

Subunit structurei

Interacts with B3GNT1/B4GAT1.1 Publication

Protein-protein interaction databases

BioGridi125666. 18 interactors.
DIPiDIP-48923N.
IntActiQ8N3Y3. 1 interactor.
STRINGi9606.ENSP00000324570.

Structurei

3D structure databases

ProteinModelPortaliQ8N3Y3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni97 – 372Xylosyltransferase activityBy similarityAdd BLAST276
Regioni373 – 715Glucuronyltransferase activityBy similarityAdd BLAST343

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

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000231467.
HOVERGENiHBG052308.
InParanoidiQ8N3Y3.
KOiK09668.
OMAiAPGCFPG.
OrthoDBiEOG091G034V.
PhylomeDBiQ8N3Y3.
TreeFamiTF319168.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

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
Checksum:i7E9E208AAD872344
GO

Sequence cautioni

The sequence AAG23791 differs from that shown. Reason: Frameshift at positions 496, 510 and 674.Curated
The sequence BAC03909 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_03185437E → K.1 PublicationCorresponds to variant rs17853729dbSNPEnsembl.1
Natural variantiVAR_031855546R → W.Corresponds to variant rs11038713dbSNPEnsembl.1
Natural variantiVAR_025518677R → C.Corresponds to variant rs2271851dbSNPEnsembl.1

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.
UniGeneiHs.86543.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
UniGeneiHs.86543.

3D structure databases

ProteinModelPortaliQ8N3Y3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125666. 18 interactors.
DIPiDIP-48923N.
IntActiQ8N3Y3. 1 interactor.
STRINGi9606.ENSP00000324570.

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

PTM databases

iPTMnetiQ8N3Y3.
PhosphoSitePlusiQ8N3Y3.

Polymorphism and mutation databases

BioMutaiGYLTL1B.
DMDMi146345450.

Proteomic databases

EPDiQ8N3Y3.
MaxQBiQ8N3Y3.
PaxDbiQ8N3Y3.
PeptideAtlasiQ8N3Y3.
PRIDEiQ8N3Y3.

Protocols and materials databases

DNASUi120071.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi120071.
DisGeNETi120071.
GeneCardsiGYLTL1B.
H-InvDBHIX0009596.
HGNCiHGNC:16522. LARGE2.
HPAiHPA056621.
MIMi609709. gene.
neXtProtiNX_Q8N3Y3.
OpenTargetsiENSG00000165905.
PharmGKBiPA142671704.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000231467.
HOVERGENiHBG052308.
InParanoidiQ8N3Y3.
KOiK09668.
OMAiAPGCFPG.
OrthoDBiEOG091G034V.
PhylomeDBiQ8N3Y3.
TreeFamiTF319168.

Enzyme and pathway databases

UniPathwayiUPA00378.
ReactomeiR-HSA-5173105. O-linked glycosylation.

Miscellaneous databases

GenomeRNAii120071.
PROiQ8N3Y3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165905.
CleanExiHS_GYLTL1B.
ExpressionAtlasiQ8N3Y3. baseline and differential.
GenevisibleiQ8N3Y3. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiLARG2_HUMAN
AccessioniPrimary (citable) accession number: Q8N3Y3
Secondary accession number(s): A6NN75
, Q8N8Y6, Q8NAK3, Q8WY62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 1, 2007
Last modified: November 2, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.