Version 5.4
Mus musculus Gene: Large
Summary
InnateDB Gene IDBG-168644.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Large
Gene Name like-glycosyltransferase
Synonyms BPFD#36; enr; fg; froggy; Gyltl1a; Mbp-1; Mbp1; mKIAA0609; myd
Species Mus musculus
Ensembl Gene ENSMUSG00000004383
Encoded Proteins
IDBP-168646
like-glycosyltransferase
IDBP-401024
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 8:72814599-73353540
Strand Reverse strand
Band B3.3
Transcripts
ENSMUST00000004497 ENSMUSP00000004497
ENSMUST00000119826 ENSMUSP00000112617
ENSMUST00000146249
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:0009101 glycoprotein biosynthetic process
GO:0046716 muscle cell cellular homeostasis
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000133424
View Gene Order
ENSBTAG00000021953
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.324371 Mm.416291
RefSeq NM_010687 XM_006530727
OMIM
CCDS CCDS22420
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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