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galactose mutarotase
Summary
- Gene Symbol
-
- GALM
- Aliases
-
- aldose 1-epimerase
- aldose mutarotase
- galactomutarotase
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 130589
- HGNC
- 24063
- KEGG Gene ID
- hsa:130589
- PubChem
- 130589
- Alliance of Genome Resources
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Carbohydrate metabolism
- Cytoplasm
- Disease variant
- Isomerase
- Phosphoprotein
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A384MDW6 |
|
| Q96C23 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate metabolic process | ||
| galactose catabolic process via UDP-galactose | ||
| galactose metabolic process | ||
| glucose metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein homodimerization activity | ||
| carbohydrate binding | ||
| aldose 1-epimerase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0060180 | colitis | |
| DOID:0060189 | ileitis | |
| DOID:0060190 | ileocolitis | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0110892 | inflammatory bowel disease 1 | |
| DOID:0110900 | inflammatory bowel disease 2 | |
| DOID:0111459 | classic galactosemia | |
| DOID:14695 | galactokinase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000518 | Cataract |
| HP:0000707 | Abnormality of the nervous system |
| HP:0001263 | Global developmental delay |
| HP:0001396 | Cholestasis |
| HP:0001410 | Decreased liver function |
| HP:0001508 | Failure to thrive |
| HP:0002240 | Hepatomegaly |
| HP:0003623 | Neonatal onset |
| HP:0004915 | Impairment of galactose metabolism |
| Disease ID | Disease Name |
|---|---|
| ORPHA:570422 |
|
| OMIM:618881 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178723 | WB:WBGene00015270 | ||
| 4363084 | WB:WBGene00044734 | ||
| 32345 | FB:FBgn0030525 | ||
| 34586 | FB:FBgn0032372 | ||
| 38697 | FB:FBgn0035679 | ||
| 40406 | FB:FBgn0043783 | ||
| 261603 | FB:FBgn0052445 | ||
| 100180579 | CIOIN02533 | ||
| 436646 | ZFIN:ZDB-GENE-040718-66 | DANRE05612 | |
| 103030950 | ASTMX02786 |
