Version 5.4
Mus musculus Protein: Large
Summary
InnateDB Protein IDBP-401024.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Large
Protein Name like-glycosyltransferase
Synonyms BPFD#36; enr; fg; froggy; Gyltl1a; Mbp-1; Mbp1; mKIAA0609; myd;
Species Mus musculus
Ensembl Protein ENSMUSP00000112617
InnateDB Gene IDBG-168644 (Large)
Protein Structure
UniProt Annotation
Function Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit (By similarity). {ECO:0000250}.
Subcellular Localization Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
Disease Associations Note=Defects in Large may be a cause of myodystrophy (myd), an autosomal recessive neuromuscular phenotype, probably due to abnormal post-translational modification of alpha- dystroglycan. {ECO:0000269PubMed:11381262}.
Tissue Specificity Ubiquitous. Highest expression in heart, diaphragm and brain, where it is especially found in cerebral cortex, hippocampus, and trigeminal ganglion. {ECO:0000269PubMed:15958417}.
Comments
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
Protein Structure and Domains
PDB ID MGI:1342270
InterPro IPR002495 Glycosyl transferase, family 8
IPR029044 Nucleotide-diphospho-sugar transferases
PFAM PF01501
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Z1M7
PhosphoSite PhosphoSite-Q9Z1M7
TrEMBL Q059X9
UniProt Splice Variant
Entrez Gene 16795
UniGene Mm.416291
RefSeq XP_006530790
MGI ID
MGI Symbol Large
OMIM
CCDS CCDS22420
HPRD
IMGT
EMBL AJ006278 AK122328 BC061506 BC100399 BC125487 BC125489 CH466525
GenPept AAH61506 AAI00400 AAI25488 AAI25490 BAC65610 CAA06945 EDL10819

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