Bos taurus Gene: LARGE | |||||||
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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
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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] |
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Gene Information | |||||||
Type | Protein coding | ||||||
Genomic Location | Chromosome 5:72157229-72769395 | ||||||
Strand | Reverse strand | ||||||
Band | |||||||
Transcripts |
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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.
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Gene Ontology | |||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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 | ||||||