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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]
LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with LARGE1 include Muscular Dystrophy-Dystroglycanopathy , Type B, 6 and Muscular Dystrophy-Dystroglycanopathy , Type A, 6. Among its related pathways are Metabolism of proteins and Metabolism. An important paralog of this gene is LARGE2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0008375 | acetylglucosaminyltransferase activity | TAS | 9892679 |
GO:0015020 | glucuronosyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IBA,TAS | 9892679 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005794 | Golgi apparatus | IBA,IDA | 25279699 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Mannose type O-glycan biosynthesis | ||
3 | Metabolism | ||
4 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006044 | N-acetylglucosamine metabolic process | TAS | 9892679 |
GO:0006486 | protein glycosylation | TAS | 9892679 |
GO:0006493 | protein O-linked glycosylation | TAS | -- |
GO:0006688 | glycosphingolipid biosynthetic process | TAS | 9892679 |
GO:0008152 | metabolic process | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LARGE 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LARGE 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Large 30 31 |
|
OneToOne | |
Large1 17 |
|
||||
Chicken (Gallus gallus) |
Aves | LARGE 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LARGE 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498555 30 |
|
||
Str.6025 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68636 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | large 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | lge-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640034 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,554(-) | T/G | MISSENSE_VARIANT | |
641911 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,381(-) | C/T | MISSENSE_VARIANT | |
642137 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,316,104(-) | C/T | MISSENSE_VARIANT | |
645196 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,650,569(-) | A/G | MISSENSE_VARIANT | |
646799 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 33,304,438(-) | G/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
muscular dystrophy-dystroglycanopathy , type a, 6 |
|
|
congenital muscular dystrophy-dystroglycanopathy type a6 |
|
|
congenital muscular dystrophy with intellectual disability |
|
|
walker-warburg syndrome |
|