Human Gene LARGE1 (ENST00000674789.1) Description and Page Index
Description: Homo sapiens LARGE xylosyl- and glucuronyltransferase 1 (LARGE1), transcript variant 10, mRNA. (from RefSeq NM_001378628) 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: ENST00000674789.1 Gencode Gene: ENSG00000133424.22 Transcript (Including UTRs) Position: hg38 chr22:33,274,220-33,922,596 Size: 648,377 Total Exon Count: 14 Strand: - Coding Region Position: hg38 chr22:33,274,427-33,761,476 Size: 487,050 Coding Exon Count: 13
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.
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.