Bos taurus Gene: LARGE
Summary
InnateDB Gene IDBG-637848.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LARGE
Gene Name glycosyltransferase-like protein LARGE1
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000021953
Encoded Proteins
like-glycosyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000133424:
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 5:72157229-72769395
Strand Reverse strand
Band
Transcripts
ENSBTAT00000029269 ENSBTAP00000029269
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0016757 transferase activity, transferring glycosyl groups
Biological Process
GO:0008152 metabolic process
GO:0046716 muscle cell cellular homeostasis
Cellular Component
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL E1BDI0
UniProt Splice Variant
Entrez Gene 506466
UniGene Bt.108249 Bt.29331
RefSeq NM_001205588 XM_005206780 XM_005206781 XM_005206782 XM_005206783
HUGO HGNC:6511
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02013760 DAAA02013761 DAAA02013762 DAAA02013763 DAAA02013764 DAAA02013765 DAAA02013766 DAAA02013767 DAAA02013768 DAAA02013769 DAAA02013770 DAAA02013771
GenPept
RNA Seq Atlas 506466