Property Summary

NCBI Gene PubMed Count 39
Grant Count 194
R01 Count 81
Funding $61,149,492.73
PubMed Score 519.70
PubTator Score 12.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 4.300 0.000
posterior fossa group A ependymoma -1.900 0.000
cutaneous lupus erythematosus -1.100 0.005
psoriasis -2.500 0.000
glioblastoma -1.600 0.000
osteosarcoma -1.332 0.000
medulloblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.800 0.000
medulloblastoma, large-cell -1.700 0.000
primitive neuroectodermal tumor -1.300 0.000
Hydrolethalus syndrome -1.311 0.039
lung cancer -2.100 0.003
colon cancer -1.400 0.048
adult high grade glioma -1.300 0.000

Synonym

Accession O95461 B0QXZ7 O60348 Q17R80 Q9UGD1 Q9UGE7 Q9UGG3 Q9UGZ8 Q9UH22
Symbols LARGE
MDC1D
MDDGA6
MDDGB6

Gene

PANTHER Protein Class (2)

Gene RIF (19)

PMID Text
25279699 A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
25279697 B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
24709677 A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies, whereas the mutation p.Glu509Lys in this study may confer a milder phenotype.
24629698 results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter.
24132234 results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function
23705025 This study suggests LARGE as the first known modifier of plasma antithrombin.
22223806 LARGE could act as a bifunctional glycosyltransferase, with xylosyltransferase and glucuronyltransferase activities, which produced repeating units of [-3-xylose-alpha1,3-glucuronic acid-beta1-]; allowed alpha-DG to bind laminin-G domain-containing ECM ligands
21987822 the ligand-binding activity of alpha-dystroglycan is conferred primarily by LARGE modification at Thr-317 and -319, within the highly conserved first 18 amino acids of the mucin-like domain
21727005 This study demonistreated that Intragenic rearrangements in LARGE gene in muscle-eye-brain disease.
21248746 This report extends our knowledge of the clinical phenotype associated with LARGE, and is the second family in which disease results from a large-scale gene rearrangement.
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AA Sequence

MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMR      1 - 70
EVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHV     71 - 140
AIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSW    141 - 210
IPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGN    211 - 280
LWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVY    281 - 350
QLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP    351 - 420
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEA    421 - 490
ICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMF    491 - 560
LSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVW    561 - 630
TKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPN    631 - 700
AYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS                  701 - 756
//

Text Mined References (40)

PMID Year Title
25279699 2014 The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated ?-dystroglycan functional glycosylation.
25279697 2014 B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of ?-dystroglycan.
25138275 2014 Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of ?-dystroglycan in cells and tissues.
24962325 2014 Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24709677 2014 Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
24629698 2014 Correlation of deregulated like-acetylglucosaminyl transferase and aberrant ?-dystroglycan expression with human tongue cancer metastasis.
24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
24132234 2013 LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
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