You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
LARGE1
LARGE xylosyl- and glucuronyltransferase 1

Protein Summary
Description
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). This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and gly ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000354992
  • ENSP00000347088
  • ENSG00000133424
  • ENST00000397394
  • ENSP00000380549
  • ENST00000402320
  • ENSP00000385223

Symbol
  • KIAA0609
  • LARGE
  • LARGE
  • MDC1D
  • MDDGA6
  • MDDGB6
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 27.4   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 135   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 27.4   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 135   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (48)
PLAUR
Tchem
Family:  Enzyme
Novelty:  0.00087642
p_int:  0.999981552
p_ni:  0.000018444
p_wrong:  4e-9
Data Source:  BioPlex
RLN1
Tbio
Novelty:  0.03992636
p_int:  0.999860821
p_ni:  0.000137902
p_wrong:  0.000001278
Data Source:  BioPlex
SCGB2A1
Tbio
Novelty:  0.01902973
p_int:  0.999581079
p_ni:  0.000418916
p_wrong:  6e-9
Data Source:  BioPlex
TMEM25
Tdark
Novelty:  0.35505784
p_int:  0.999325701
p_ni:  0.000602168
p_wrong:  0.000072131
Data Source:  BioPlex
SCGB2A2
Tbio
Novelty:  0.01594053
p_int:  0.998881937
p_ni:  0.000814724
p_wrong:  0.000303339
Data Source:  BioPlex
SLC3A2
Tbio
Family:  Transporter
Novelty:  0.0021506
p_int:  0.997355128
p_ni:  0.002494237
p_wrong:  0.000150635
Data Source:  BioPlex
HYOU1
Tbio
Novelty:  0.00833649
p_int:  0.996114993
p_ni:  0.003160439
p_wrong:  0.000724569
Data Source:  BioPlex
PSCA
Tbio
Novelty:  0.00323778
p_int:  0.991276921
p_ni:  0.00822602
p_wrong:  0.000497059
Data Source:  BioPlex
FAM19A2
Tbio
Novelty:  0.28999346
p_int:  0.969724884
p_ni:  0.028652918
p_wrong:  0.001622198
Data Source:  BioPlex
SLAMF1
Tbio
Novelty:  0.00112892
p_int:  0.955576446
p_ni:  0.005664659
p_wrong:  0.038758894
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (10)
Defective LARGE causes MDDGA6 and MDDGB6 (R-HSA-5083627)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective LARGE causes MDDGA6 and MDDGB6
Reactome
Disease
Reactome
Diseases associated with O-glycosylation of proteins
Reactome
Diseases of glycosylation
Reactome
Metabolism of proteins
Name
Explore in Pharos
Explore in Source
Defective LARGE causes MDDGA6 and MDDGB6
Disease
Diseases associated with O-glycosylation of proteins
Diseases of glycosylation
Metabolism of proteins
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (18)
Find Similar Targets
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Traceable Author Statement (TAS)
ProtInc
Traceable Author Statement (TAS)
UniProtKB
Traceable Author Statement (TAS)
Reactome
Disease Associations ()
No disease associations found
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
2
3
3
81.1
mathematical ability
2
2
2
55.2
household income
1
2
2
29.9
intelligence
2
2
1
5.5
26.6
neuroticism measurement
1
1
1
17.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
3
81.1
mathematical ability
2
55.2
household income
2
29.9
intelligence
1
5.5
26.6
neuroticism measurement
1
17.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (6)
1 – 5 of 6
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
LARGE xylosyl- and glucuronyltransferase 1
VGNC:13835
470192
Mouse
MGI:1342270
16795
Dog
LARGE xylosyl- and glucuronyltransferase 1
VGNC:42585
474521
Horse
LARGE xylosyl- and glucuronyltransferase 1
VGNC:19584
100068935
Chicken
LARGE xylosyl- and glucuronyltransferase 1
CGNC:50664
418062
Species
Name
OMA
EggNOG
Inparanoid
Chimp
LARGE xylosyl- and glucuronyltransferase 1
Mouse
Dog
LARGE xylosyl- and glucuronyltransferase 1
Horse
LARGE xylosyl- and glucuronyltransferase 1
Chicken
LARGE xylosyl- and glucuronyltransferase 1
Publication Statistics
PubMed Score 27.40
PubMed score by year
PubTator Score 23.43
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title