LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

2016-06-01  

Identity

HGNC
LOCATION
22q12.3
LOCUSID
ALIAS
LARGE,MDC1D,MDDGA6,MDDGB6

Other Information

Locus ID:

NCBI: 9215
MIM: 603590
HGNC: 6511
Ensembl: ENSG00000133424

Variants:

dbSNP: 9215
ClinVar: 9215
TCGA: ENSG00000133424
COSMIC: LARGE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133424ENST00000354992O95461
ENSG00000133424ENST00000354992X5DR28
ENSG00000133424ENST00000397394O95461
ENSG00000133424ENST00000397394X5DR28
ENSG00000133424ENST00000402320O95461
ENSG00000133424ENST00000413114B0QYZ8
ENSG00000133424ENST00000421768B0QY08
ENSG00000133424ENST00000423375B0QZ00
ENSG00000133424ENST00000430220B0QZ02
ENSG00000133424ENST00000432776B0QZ01
ENSG00000133424ENST00000434071B0QYZ9
ENSG00000133424ENST00000608642B7ZB84
ENSG00000133424ENST00000609799B0QY11
ENSG00000133424ENST00000610186B7ZB85

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
178782072007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.125
222238062012Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.122
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192993102009Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.54
192442522009Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.51
219878222011Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
241322342013LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.44
252796992014The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.34

Citation

Dessen P

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-06-01

Online version: http://atlasgeneticsoncology.org/gene/55802/large1