InnateDB Protein
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IDBP-168646.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Large
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Protein Name
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like-glycosyltransferase
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Synonyms
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BPFD#36; enr; fg; froggy; Gyltl1a; Mbp-1; Mbp1; mKIAA0609; myd;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000004497
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InnateDB Gene
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IDBG-168644 (Large)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
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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}.
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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}.
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Comments |
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Number of Interactions
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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.
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0005515
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protein binding
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GO:0016757
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transferase activity, transferring glycosyl groups
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1342270
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InterPro |
IPR002495
Glycosyl transferase, family 8
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF01501
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Z1M7
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PhosphoSite |
PhosphoSite-Q9Z1M7
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TrEMBL |
Q059X9
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UniProt Splice Variant |
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Entrez Gene |
16795
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UniGene |
Mm.416291
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RefSeq |
NP_034817
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MGI ID |
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MGI Symbol |
Large
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OMIM |
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CCDS |
CCDS22420
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HPRD |
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IMGT |
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EMBL |
AJ006278
AK122328
BC061506
BC100399
BC125487
BC125489
CH466525
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GenPept |
AAH61506
AAI00400
AAI25488
AAI25490
BAC65610
CAA06945
EDL10819
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