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UDP-galactose-4-epimerase
Summary
- Gene Symbol
-
- GALE
- Aliases
-
- SDR1E1
- UDP-glucose 4-epimerase
- short chain dehydrogenase/reductase family 1E, member 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Carbohydrate metabolism
- Disease variant
- Galactose metabolism
- Isomerase
- NAD
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A384NL38 |
|
| Q14376 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| galactose catabolic process | ||
| galactose catabolic process via UDP-galactose |
| GO Term | Evidence Code | PMID |
|---|---|---|
| UDP-N-acetylglucosamine 4-epimerase activity | ||
| UDP-glucose 4-epimerase activity | ||
| UDP-glucose 4-epimerase activity | ||
| identical protein binding | ||
| protein homodimerization activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- UDP-glucose-4-epimerase
- Functional Category
-
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| UDP-glucose 4-epimerase activity |
| galactose catabolic process via UDP-galactose |
| galactose metabolic process |
| isomerase activity |
| InterPro |
|---|
| NAD(P)-binding domain superfamily |
| UDP-glucose 4-epimerase |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111458 | galactose epimerase deficiency | |
| DOID:1588 | thrombocytopenia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000750 | Delayed speech and language development |
| HP:0000952 | Jaundice |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:230350 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 2582 | Xenbase:XB-GENE-965029 | ||
| 38076 | Xenbase:XB-GENE-965029 | ||
| 74246 | Xenbase:XB-GENE-965029 | MOUSE40991 | |
| 114860 | RATNO33310 | ||
| 173171 | Xenbase:XB-GENE-965029 | ||
| 456623 | PANTR20239 | ||
| 678540 | DANRE11745 | ||
| 710553 | MACMU22302 | ||
| 852307 | Xenbase:XB-GENE-965029 | ||
| 100057723 | HORSE27471 |
