Gene
large1
- ID
- ZDB-GENE-061204-1
- Name
- LARGE xylosyl- and glucuronyltransferase 1
- Symbol
- large1 Nomenclature History
- Previous Names
-
- large (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable glucuronosyltransferase activity; manganese ion binding activity; and xylosyltransferase activity. Predicted to be involved in protein O-linked mannosylation; skeletal muscle organ development; and skeletal muscle tissue regeneration. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including axis; brain; cloacal chamber; fin bud; and myotome. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A6 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | 613154 |
| muscular dystrophy-dystroglycanopathy type B6 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 | 608840 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha-1,3-xylosyltransferase/Beta-1,3-glucuronyltransferase | Glycosyl transferase, family 8 | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|
| UniProtKB:Q66PG2 | InterPro | 757 | |||
| UniProtKB:B3DFM4 | InterPro | 757 | |||
| UniProtKB:F1RE53 | InterPro | 757 |
1 - 3 of 3
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
large1-201
(1)
|
Ensembl | 12,617 nt | ||
| mRNA |
large1-202
(1)
|
Ensembl | 2,492 nt |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available