Version 5.4
Homo sapiens Gene: LARGE
Summary
InnateDB Gene IDBG-5283.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LARGE
Gene Name like-glycosyltransferase
Synonyms MDC1D; MDDGA6; MDDGB6
Species Homo sapiens
Ensembl Gene ENSG00000133424
Encoded Proteins
IDBP-5285
like-glycosyltransferase
IDBP-235450
like-glycosyltransferase
IDBP-294223
like-glycosyltransferase
IDBP-373885
like-glycosyltransferase
IDBP-373886
like-glycosyltransferase
IDBP-373889
like-glycosyltransferase
IDBP-373892
like-glycosyltransferase
IDBP-373893
like-glycosyltransferase
IDBP-373898
like-glycosyltransferase
IDBP-809530
like-glycosyltransferase
IDBP-809531
like-glycosyltransferase
IDBP-809532
like-glycosyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:33162226-33922841
Strand Reverse strand
Band q12.3
Transcripts
ENST00000354992 ENSP00000347088
ENST00000397394 ENSP00000380549
ENST00000402320 ENSP00000385223
ENST00000421768 ENSP00000403841
ENST00000430220 ENSP00000396277
ENST00000413114 ENSP00000415546
ENST00000434071 ENSP00000389605
ENST00000432776 ENSP00000411065
ENST00000423375 ENSP00000406000
ENST00000476315
ENST00000462606
ENST00000494763
ENST00000608642 ENSP00000476866
ENST00000610186 ENSP00000476364
ENST00000609799 ENSP00000476415
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008375 acetylglucosaminyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0006044 N-acetylglucosamine metabolic process
GO:0006486 protein glycosylation
GO:0006688 glycosphingolipid biosynthetic process
GO:0008152 metabolic process
GO:0009101 glycoprotein biosynthetic process
GO:0046716 muscle cell cellular homeostasis
Cellular Component
GO:0030173 integral component of Golgi membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004383
View Gene Order
ENSBTAG00000021953
Not yet available
Cross-References
SwissProt
TrEMBL B0QZ00 B0QZ01
UniProt Splice Variant
Entrez Gene 9215
UniGene Hs.474667 Hs.669717
RefSeq NM_004737 NM_133642 XM_005261831 XM_006724375
HUGO HGNC:6511
OMIM 603590
CCDS CCDS13912
HPRD 04665
IMGT
EMBL AL008630 AL008640 AL008715 AL023577 AL096754 AL133451 Z49866 Z54073 Z68287 Z68324 Z69042 Z69713 Z69715 Z69943 Z70288 Z73421 Z73429 Z76736 Z77853 Z82173 Z82179 Z82198 Z97354
GenPept
RNA Seq Atlas 9215

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca