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MIRAGE
collagen beta(1-O)galactosyltransferase 1
Summary
- Gene Symbol
-
- COLGALT1
- Aliases
-
- FLJ22329
- Hydroxylysine galactosyltransferase
- Procollagen galactosyltransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Proteomics identification
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8NBJ5 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| collagen fibril organization | ||
| positive regulation of collagen fibril organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen | ||
| endoplasmic reticulum lumen | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| procollagen galactosyltransferase activity | ||
| procollagen galactosyltransferase activity | ||
| procollagen galactosyltransferase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- glycosyltransferase, family 25
- Functional Category
-
- G: Carbohydrate transport and metabolism
- I: Lipid transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
| InterPro |
|---|
| Glycosyl transferase, family 25 |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0112315 | brain small vessel disease 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0002059 | Cerebral atrophy |
| HP:0002132 | Porencephalic cyst |
| HP:0002352 | Leukoencephalopathy |
| HP:0002510 | Spastic tetraplegia |
| HP:0002514 | Cerebral calcification |
| HP:0003593 | Infantile onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:618360 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
