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LARGE (like-glycosyltransferase)

Identity

Other namesMDC1D
MDDGA6
MDDGB6
HGNC (Hugo) LARGE
LocusID (NCBI) 9215
Location 22q12.3
Location_base_pair Starts at 33669062 and ends at 34316416 bp from pter ( according to hg19-Feb_2009)
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)LARGE   6511
Cards
Entrez_Gene (NCBI)LARGE  9215  like-glycosyltransferase
GeneCards (Weizmann)LARGE
Ensembl (Hinxton)ENSG00000133424 [Gene_View]  chr22:33669062-34316416 [Contig_View]  LARGE [Vega]
AceView (NCBI)LARGE
Genatlas (Paris)LARGE
WikiGenes9215
SOURCE (Princeton)NM_004737 NM_133642
Genomic and cartography
GoldenPath (UCSC)LARGE  -  22q12.3   chr22:33669062-34316416 -  22q12.3   [Description]    (hg19-Feb_2009)
EnsemblLARGE - 22q12.3 [CytoView]
Mapping of homologs : NCBILARGE [Mapview]
OMIM236670   603590   608840   613154   
Gene and transcription
Genbank (Entrez)AB011181 AI167885 AI198348 AI199197 AJ007583
RefSeq transcript (Entrez)NM_004737 NM_133642
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_009929 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)LARGE
Cluster EST : UnigeneHs.474667 [ NCBI ]
CGAP (NCI)Hs.474667
Alternative Splicing : Fast-db (Paris)GSHG0020340
Alternative Splicing GalleryENSG00000133424
Gene ExpressionLARGE [ NCBI-GEO ]     LARGE [ SEEK ]   LARGE [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95461 (Uniprot)
NextProtO95461  [Medical]
With graphics : InterProO95461
Splice isoforms : SwissVarO95461 (Swissvar)
Catalytic activity : Enzyme2.4.-.- [ Enzyme-Expasy ]   2.4.-.-2.4.-.- [ IntEnz-EBI ]   2.4.-.- [ BRENDA ]   2.4.-.- [ KEGG ]   
Domains : Interpro (EBI)Glyco_trans_8   
Related proteins : CluSTrO95461
Domain families : Pfam (Sanger)Glyco_transf_8 (PF01501)   
Domain families : Pfam (NCBI)pfam01501   
DMDM Disease mutations9215
Blocks (Seattle)O95461
Human Protein AtlasENSG00000133424
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
BioGRIDLARGE
InParanoidO95461
Interologous Interaction database O95461
IntegromeDBLARGE
STRING (EMBL)LARGE
Ontologies - Pathways
Ontology : AmiGON-acetylglucosamine metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  transferase activity, transferring glycosyl groups  integral to Golgi membrane  muscle cell cellular homeostasis  
Ontology : EGO-EBIN-acetylglucosamine metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  transferase activity, transferring glycosyl groups  integral to Golgi membrane  muscle cell cellular homeostasis  
REACTOMELARGE
Protein Interaction DatabaseLARGE
Wikipedia pathwaysLARGE
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)LARGE
SNP (GeneSNP Utah)LARGE
SNP : HGBaseLARGE
Genetic variants : HAPMAPLARGE
1000_GenomesLARGE 
ICGC programENSG00000133424 
Somatic Mutations in Cancer : COSMICLARGE 
CONAN: Copy Number AnalysisLARGE 
Mutations and Diseases : HGMDLARGE
OMIM236670    603590    608840    613154   
GENETestsLARGE
Disease Genetic AssociationLARGE
Huge Navigator LARGE [HugePedia]  LARGE [HugeCancerGEM]
Genomic VariantsLARGE  LARGE [DGVbeta]
Exome VariantLARGE
dbVarLARGE
ClinVarLARGE
snp3D : Map Gene to Disease9215
General knowledge
Homologs : HomoloGeneLARGE
Homology/Alignments : Family Browser (UCSC)LARGE
Phylogenetic Trees/Animal Genes : TreeFamLARGE
Chemical/Protein Interactions : CTD9215
Chemical/Pharm GKB GenePA30296
Clinical trialLARGE
Cancer Resource (Charite)ENSG00000133424
Other databases
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
CoreMineLARGE
iHOPLARGE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:23:35 CEST 2014

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