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MIRAGE
ALG13 UDP-N-acetylglucosaminyltransferase subunit
Summary
- Gene Symbol
-
- ALG13
- Aliases
-
- CDG1S
- FLJ23018
- MDS031
- N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
- TDRD13
- YGL047W
- tudor domain containing 13
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- Glycosyltransferase
- Membrane
- Multifunctional enzyme
- Proteomics identification
- Reference proteome
- Thiol protease
- Ubl conjugation pathway
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A087WT15 |
|
| Q9NP73 |
|
| A0A087WX43 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein N-linked glycosylation | ||
| dolichol-linked oligosaccharide biosynthetic process | ||
| proteolysis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| UDP-N-acetylglucosamine transferase complex | ||
| cytoplasmic side of endoplasmic reticulum membrane |
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- UDP-N-acetylglucosamine transferase
- Functional Category
-
- G: Carbohydrate transport and metabolism
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| dolichol-linked oligosaccharide biosynthetic process |
| hexosyltransferase activity |
| transferase activity |
| InterPro |
|---|
| Glycosyl transferase, family 28, C-terminal |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg205
- Gene Symbol
-
- ALG13
- Reactions
G68544GH
G05026ZL
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Caenorhabditis elegans | NP_506467 | NM_074066 |
| Mus musculus | NP_796104 | NM_177130 |
| Rattus norvegicus | NP_001013973 | NM_001013951 |
| Saccharomyces cerevisiae | CAA96749 | Z72569 |
| Drosophila melanogaster | NP_651673 | NM_143416 |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080470 | developmental and epileptic encephalopathy 36 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000331 | Short chin |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000463 | Anteverted nares |
| Disease ID | Disease Name |
|---|---|
| OMIM:300884 |
|
| ORPHA:324422 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 43443 | Xenbase:XB-GENE-5852383 | ||
| 54726 | FB:FBgn0031622 | ||
| 67574 | Xenbase:XB-GENE-22172432 | MOUSE66251 | |
| 79868 | Xenbase:XB-GENE-22172432 | ||
| 179890 | Xenbase:XB-GENE-5852383 | ||
| 300284 | Xenbase:XB-GENE-5852383 | RATNO45024 | |
| 320302 | Xenbase:XB-GENE-5852383 | MOUSE37106 | |
| 431927 | Xenbase:XB-GENE-5852383 | ||
| 436733 | Xenbase:XB-GENE-5852383 | ||
| 549862 | Xenbase:XB-GENE-5852383 |
