Gene: LARGE1

9215
LARGE|MDC1D|MDDGA6|MDDGB6
LARGE xylosyl- and glucuronyltransferase 1
protein-coding
22q12.3
Ensembl:ENSG00000133424 MIM:603590 Vega:OTTHUMG00000150914 UniprotKB:O95461
NG_009929.2
SNP Mapped
5   ANCO-SNPs
ND|AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
1.687e-1 (AD)  6.547e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs2213360chr22:33895762 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs5999108chr22:33805813 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)
rs5754638chr22:33682071 (GRCh38.p7)A>G / A>Talcohol dependenceSNV(Single Nucleotide Variation)
rs7293114chr22:33589329 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)
rs5998935chr22:33411849 (GRCh38.p7)G>A / G>Cnicotine dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
D000082AcetaminophenAcetaminophen affects the expression of LARGE1 mRNA17562736
D016604Aflatoxin B1Aflatoxin B1 affects the expression of LARGE1 protein20106945
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of LARGE1 mRNA21641981|2210060
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of LARGE1 mRNA19770486
D000393Air PollutantsAir Pollutants analog results in decreased expression of LARGE1 mRNA21757418
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of LARGE1 mRNA20064835|2010694
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of LARGE1 mRNA19770486|2171566
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of LARGE1 mRNA22228805
D0151237,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of LARGE1 mRNA"26238291
C006780bisphenol Abisphenol A results in increased expression of LARGE1 mRNA26364221
C006780bisphenol Abisphenol A affects the expression of LARGE1 mRNA25181051
C018475butyraldehydebutyraldehyde results in decreased expression of LARGE1 mRNA26079696
D002104CadmiumCadmium results in decreased expression of LARGE1 mRNA23369406
D002737ChloropreneChloroprene results in increased expression of LARGE1 mRNA23125180
D003042Cocaine[Cocaine co-treated with FOS protein mutant form] results in increased expression of LARGE1 mRNA18355967
D003300Copper[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of LARGE1 mRNA15467011
D016572CyclosporineCyclosporine results in decreased expression of LARGE1 mRNA25562108
D003993Dibutyl PhthalateDibutyl Phthalate results in decreased expression of LARGE1 mRNA21266533
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in decreased expression of LARGE1 mRNA27392435
D002945CisplatinCisplatin results in decreased expression of LARGE1 mRNA22023808
D004041Dietary FatsDietary Fats results in increased expression of LARGE1 mRNA19030233|2803146
D004041Dietary Fatsrimonabant inhibits the reaction [Dietary Fats results in increased expression of LARGE1 mRNA]19030233
D004052Diethylnitrosamine[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of LARGE1 mRNA25374375
D004052Diethylnitrosamine[Diethylnitrosamine co-treated with Phenobarbital] results in decreased methylation of LARGE1 promoter25374375
D005038EthylnitrosoureaEthylnitrosourea results in increased mutagenesis of LARGE1 gene16495775
D004397FonofosFonofos results in increased methylation of LARGE1 promoter22847954
C039281furanfuran results in increased methylation of LARGE1 gene22079235
D017313FenretinideFenretinide results in decreased expression of LARGE1 mRNA28973697
D006861Hydrogen PeroxideHydrogen Peroxide results in increased expression of LARGE1 mRNA26846883
C544151jinfukang[Cisplatin co-treated with jinfukang] results in decreased expression of LARGE1 mRNA27392435
D008694MethamphetamineLARGE1 gene SNP affects the susceptibility to Methamphetamine18316681
D008774MethylphenidateMethylphenidate results in decreased expression of LARGE1 mRNA22470460
D0156551-Methyl-4-phenylpyridinium1-Methyl-4-phenylpyridinium results in decreased expression of LARGE1 mRNA24810058
D009151Mustard GasMustard Gas affects the expression of LARGE1 mRNA15651846
D010278ParathionParathion results in increased methylation of LARGE1 promoter22847954
D010634PhenobarbitalNR1I3 protein affects the reaction [Phenobarbital results in increased expression of LARGE1 mRNA]19482888
D010634PhenobarbitalPhenobarbital affects the methylation of LARGE1 gene19233941
D010634PhenobarbitalPhenobarbital results in increased expression of LARGE1 mRNA19482888
D010634Phenobarbital[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of LARGE1 mRNA25374375
D010634Phenobarbital[Diethylnitrosamine co-treated with Phenobarbital] results in decreased methylation of LARGE1 promoter25374375
C006253pirinixic acidpirinixic acid results in increased expression of LARGE1 mRNA18301758
D011192Potassium DichromatePotassium Dichromate results in increased expression of LARGE1 mRNA23608068
C089032rimonabantrimonabant affects the expression of LARGE1 mRNA19030233
C089032rimonabantrimonabant inhibits the reaction [Dietary Fats results in increased expression of LARGE1 mRNA]19030233
D012822Silicon DioxideSilicon Dioxide analog results in decreased expression of LARGE1 mRNA25895662
C017947sodium arsenitesodium arsenite affects the methylation of LARGE1 gene28589171
C017947sodium arsenitesodium arsenite results in decreased expression of LARGE1 mRNA22714537
C016104sodium bichromatesodium bichromate results in decreased expression of LARGE1 mRNA25993096
C012568terbufosterbufos results in increased methylation of LARGE1 promoter22847954
D013750TetrachloroethyleneTetrachloroethylene results in increased expression of LARGE1 mRNA28973375
D014520UrethaneUrethane results in increased expression of LARGE1 mRNA28818685
D014635Valproic AcidValproic Acid affects the expression of LARGE1 mRNA25979313
D014635Valproic AcidValproic Acid results in increased expression of LARGE1 mRNA23179753
D000069470Venlafaxine HydrochlorideVenlafaxine Hydrochloride results in decreased expression of LARGE1 mRNA16341940
C029297vinylidene chloridevinylidene chloride results in increased expression of LARGE1 mRNA26682919
D024483Vitamin K 3Vitamin K 3 affects the expression of LARGE1 mRNA20044591

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0008375acetylglucosaminyltransferase activity-TAS9892679  
GO:0015020glucuronosyltransferase activity-IDA22223806  25279697  25279699  
GO:0015020glucuronosyltransferase activity-TAS-  
GO:0016757transferase activity, transferring glycosyl groups-TAS9892679  
GO:0030145manganese ion binding-IDA25138275  
GO:0035252UDP-xylosyltransferase activity-TAS-  
GO:0042285xylosyltransferase activity-IDA22223806  25279697  
GO ID GO Term Qualifier Evidence PubMed
GO:0006044N-acetylglucosamine metabolic process-TAS9892679  
GO:0006486protein glycosylation-TAS9892679  
GO:0006493protein O-linked glycosylation-TAS-  
GO:0006688glycosphingolipid biosynthetic process-TAS9892679  
GO:0009101glycoprotein biosynthetic process-TAS9892679  
GO:0035269protein O-linked mannosylation-IDA22223806  25138275  25279697  25279699  
GO:0043403skeletal muscle tissue regeneration-ISS-  
GO:0046716muscle cell cellular homeostasis-ISS-  
GO:0060538skeletal muscle organ development-ISS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0000139Golgi membrane-TAS-  
GO:0005794Golgi apparatus-IDA25279699  
GO:0030173integral component of Golgi membrane-TAS9892679  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-1643685DiseaseTAS
R-HSA-3781865Diseases of glycosylationTAS
R-HSA-3906995Diseases associated with O-glycosylation of proteinsTAS
R-HSA-392499Metabolism of proteinsTAS
R-HSA-5083627Defective LARGE causes MDDGA6 and MDDGB6TAS
R-HSA-5173105O-linked glycosylationTAS
R-HSA-597592Post-translational protein modificationTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal