Human Gene LARGE1 (ENST00000402320.6) Description and Page Index
Description: Homo sapiens LARGE xylosyl- and glucuronyltransferase 1 (LARGE1), transcript variant 11, mRNA. (from RefSeq NM_001378629) RefSeq Summary (NM_001378629): 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: ENST00000402320.6 Gencode Gene: ENSG00000133424.22 Transcript (Including UTRs) Position: hg38 chr22:33,273,077-33,920,414 Size: 647,338 Total Exon Count: 14 Strand: - Coding Region Position: hg38 chr22:33,274,427-33,761,476 Size: 487,050 Coding Exon Count: 13
ID:LARGE_HUMAN DESCRIPTION: RecName: Full=Glycosyltransferase-like protein LARGE1; EC=2.4.-.-; AltName: Full=Acetylglucosaminyltransferase-like 1A; 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. PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Interacts with DAG1 (via the N-terminal domain of alpha- DAG1); the interaction increases binding of DAG1 to laminin (By similarity). SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein. TISSUE SPECIFICITY: Ubiquitous. Highest expression in heart, brain and skeletal muscle. DISEASE: Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B6 (MDDGB6) [MIM:608840]. A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. DISEASE: Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154]; also called muscle-eye-brain disease LARGE- related or Walker-Warburg syndrome LARGE-related. MDDGA6 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. SIMILARITY: Belongs to the glycosyltransferase 8 family. SEQUENCE CAUTION: Sequence=BAA25535.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LARGE"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Glycosyltransferase-like protein LARGE1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_549";
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.
Pfam Domains: PF01501 - Glycosyl transferase family 8
ModBase Predicted Comparative 3D Structure on O95461
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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.