Human Gene LARGE1 (ENST00000608642.6) Description and Page Index
Description: LARGE xylosyl- and glucuronyltransferase 1 (from HGNC LARGE1) RefSeq Summary (NM_001378627): This gene 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. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]. Gencode Transcript: ENST00000608642.6 Gencode Gene: ENSG00000133424.22 Transcript (Including UTRs) Position: hg38 chr22:33,162,226-33,761,476 Size: 599,251 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr22:33,166,763-33,761,476 Size: 594,714 Coding Exon Count: 12
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on B7ZB84
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.