Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

Identity

Alias_namesLARGE
like-glycosyltransferase
Alias_symbol (synonym)KIAA0609
Other aliasMDC1D
MDDGA6
MDDGB6
HGNC (Hugo) LARGE1
LocusID (NCBI) 9215
Atlas_Id 55802
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 33272861 and ends at 33920422 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LARGE1   6511
LRG (Locus Reference Genomic)LRG_856
Cards
Entrez_Gene (NCBI)LARGE1  9215  LARGE xylosyl- and glucuronyltransferase 1
AliasesLARGE; MDC1D; MDDGA6; MDDGB6
GeneCards (Weizmann)LARGE1
Ensembl hg19 (Hinxton)ENSG00000133424 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133424 [Gene_View]  chr22:33272861-33920422 [Contig_View]  LARGE1 [Vega]
ICGC DataPortalENSG00000133424
TCGA cBioPortalLARGE1
AceView (NCBI)LARGE1
Genatlas (Paris)LARGE1
WikiGenes9215
SOURCE (Princeton)LARGE1
Genetics Home Reference (NIH)LARGE1
Genomic and cartography
GoldenPath hg38 (UCSC)LARGE1  -     chr22:33272861-33920422 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LARGE1  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblLARGE1 - 22q12.3 [CytoView hg19]  LARGE1 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBILARGE1 [Mapview hg19]  LARGE1 [Mapview hg38]
OMIM236670   603590   608840   613154   
Gene and transcription
Genbank (Entrez)AB011181 AI167885 AI198348 AI199197 AJ007583
RefSeq transcript (Entrez)NM_004737 NM_133642
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LARGE1
Cluster EST : UnigeneHs.474667 [ NCBI ]
CGAP (NCI)Hs.474667
Alternative Splicing GalleryENSG00000133424
Gene ExpressionLARGE1 [ NCBI-GEO ]   LARGE1 [ EBI - ARRAY_EXPRESS ]   LARGE1 [ SEEK ]   LARGE1 [ MEM ]
Gene Expression Viewer (FireBrowse)LARGE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9215
GTEX Portal (Tissue expression)LARGE1
Human Protein AtlasENSG00000133424-LARGE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95461   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95461  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95461
Splice isoforms : SwissVarO95461
Catalytic activity : Enzyme2.4.-.- [ Enzyme-Expasy ]   2.4.-.-2.4.-.- [ IntEnz-EBI ]   2.4.-.- [ BRENDA ]   2.4.-.- [ KEGG ]   
PhosPhoSitePlusO95461
Domains : Interpro (EBI)Glyco_trans_8    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_8 (PF01501)   
Domain families : Pfam (NCBI)pfam01501   
Conserved Domain (NCBI)LARGE1
DMDM Disease mutations9215
Blocks (Seattle)LARGE1
SuperfamilyO95461
Human Protein Atlas [tissue]ENSG00000133424-LARGE1 [tissue]
Peptide AtlasO95461
HPRD04665
IPIIPI00029050   IPI00607752   IPI00880187   IPI00889585   IPI00878770   IPI00878920   IPI00879087   IPI00879892   IPI00879408   IPI01019051   IPI00916356   IPI00916782   
Protein Interaction databases
DIP (DOE-UCLA)O95461
IntAct (EBI)O95461
FunCoupENSG00000133424
BioGRIDLARGE1
STRING (EMBL)LARGE1
ZODIACLARGE1
Ontologies - Pathways
QuickGOO95461
Ontology : AmiGOGolgi membrane  Golgi apparatus  N-acetylglucosamine metabolic process  protein glycosylation  protein O-linked glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  transferase activity, transferring glycosyl groups  manganese ion binding  integral component of Golgi membrane  UDP-xylosyltransferase activity  protein O-linked mannosylation  xylosyltransferase activity  skeletal muscle tissue regeneration  muscle cell cellular homeostasis  skeletal muscle organ development  
Ontology : EGO-EBIGolgi membrane  Golgi apparatus  N-acetylglucosamine metabolic process  protein glycosylation  protein O-linked glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  glucuronosyltransferase activity  glucuronosyltransferase activity  transferase activity, transferring glycosyl groups  manganese ion binding  integral component of Golgi membrane  UDP-xylosyltransferase activity  protein O-linked mannosylation  xylosyltransferase activity  skeletal muscle tissue regeneration  muscle cell cellular homeostasis  skeletal muscle organ development  
NDEx NetworkLARGE1
Atlas of Cancer Signalling NetworkLARGE1
Wikipedia pathwaysLARGE1
Orthology - Evolution
OrthoDB9215
GeneTree (enSembl)ENSG00000133424
Phylogenetic Trees/Animal Genes : TreeFamLARGE1
HOVERGENO95461
HOGENOMO95461
Homologs : HomoloGeneLARGE1
Homology/Alignments : Family Browser (UCSC)LARGE1
Gene fusions - Rearrangements
Tumor Fusion PortalLARGE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLARGE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LARGE1
dbVarLARGE1
ClinVarLARGE1
1000_GenomesLARGE1 
Exome Variant ServerLARGE1
ExAC (Exome Aggregation Consortium)ENSG00000133424
GNOMAD BrowserENSG00000133424
Genetic variants : HAPMAP9215
Genomic Variants (DGV)LARGE1 [DGVbeta]
DECIPHERLARGE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLARGE1 
Mutations
ICGC Data PortalLARGE1 
TCGA Data PortalLARGE1 
Broad Tumor PortalLARGE1
OASIS PortalLARGE1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDLARGE1
BioMutasearch LARGE1
DgiDB (Drug Gene Interaction Database)LARGE1
DoCM (Curated mutations)LARGE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LARGE1 (select a term)
intoGenLARGE1
Cancer3DLARGE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236670    603590    608840    613154   
Orphanet22510    8726    8725   
DisGeNETLARGE1
MedgenLARGE1
Genetic Testing Registry LARGE1
NextProtO95461 [Medical]
TSGene9215
GENETestsLARGE1
Target ValidationLARGE1
Huge Navigator LARGE1 [HugePedia]
snp3D : Map Gene to Disease9215
BioCentury BCIQLARGE1
ClinGenLARGE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9215
Chemical/Pharm GKB GenePA30296
Clinical trialLARGE1
Miscellaneous
canSAR (ICR)LARGE1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLARGE1
EVEXLARGE1
GoPubMedLARGE1
iHOPLARGE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:19:32 CET 2017

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