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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
LARGE xylosyl- and glucuronyltransferase 1
Summary
- Gene Symbol
-
- LARGE1
- Aliases
-
- KIAA0609
- like-acetylglucosaminyltransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Coiled coil
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Lissencephaly
- Manganese
- Metal-binding
- Multifunctional enzyme
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein-containing complex assembly | ||
| neuron migration | ||
| myelination | ||
| muscle cell cellular homeostasis | ||
| neuromuscular process controlling posture |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
developmental process [inference]
localization [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuromuscular junction | ||
| plasma membrane | ||
| Golgi apparatus | ||
| protein-containing complex | ||
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosyltransferase activity | ||
| hexosyltransferase activity | ||
| UDP-xylosyltransferase activity | ||
| manganese ion binding | ||
| acetylglucosaminyltransferase activity |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg171
- Gene Symbol
-
- LARGE1
- Reactions
G42293RF
G16579HJ
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Caenorhabditis elegans | NP_509833 | NM_077432 |
| Mus musculus | NP_034817 | NM_010687 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
| DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
| DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000050 | Hypoplastic male external genitalia |
| HP:0000054 | Micropenis |
| HP:0000110 | Renal dysplasia |
| HP:0000158 | Macroglossia |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000204 | Cleft upper lip |
| Disease ID | Disease Name |
|---|---|
| OMIM:613154 |
|
| ORPHA:899 |
|
| ORPHA:370968 |
|
| OMIM:608840 |
|
| OMIM:236670 |
|
| ORPHA:588 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 187206 | WB:WBGene00010716 | ||
| 103181844 | CALMI23854 | ||
| 102357936 | LATCH18608 | ||
| 446213 | ZFIN:ZDB-GENE-061204-1 | DANRE35049 | |
| 103045143 | ASTMX14437 | ||
| 113573532 | ELEEL13090 | ||
| 113573576 | ELEEL13088 | ||
| 101164859 | ORYLA10880 | ||
| 100696542 | ORENI17896 | ||
| 108704366 | Xenbase:XB-GENE-17343600 |
