GALE
Summary: This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| UDP-galactose-4-epimerase | MIM:606953 | Ensembl:ENSG00000117308 | HGNC:HGNC:4116 | PA28531 | 1p36.11 |
Gene Categories:
DRUGGABLE GENOMEGO terms in GALE
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0019388 | galactose catabolic process |
| BP | TAS | GO:0019388 | galactose catabolic process |
| CC | TAS | GO:0005829 | cytosol |
| MF | IEA | GO:0003974 | UDP-N-acetylglucosamine 4-epimerase activity |
| MF | EXP | GO:0003978 | UDP-glucose 4-epimerase activity |
| MF | IDA | GO:0003978 | UDP-glucose 4-epimerase activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
Gene expression in normal tissue: GALE
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GALE
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| humancyc | PWY-5512 | UDP-N-acetyl-D-galactosamine biosynthesis I |
| humancyc | PWY-5514 | UDP-N-acetyl-D-galactosamine biosynthesis II |
| humancyc | PWY66-422 | D-galactose degradation V (Leloir pathway) |
| kegg | hsa00052 | Galactose metabolism - Homo sapiens (human) |
| kegg | hsa00520 | Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) |
| smpdb | SMP00010 | Nucleotide Sugars Metabolism |
| smpdb | SMP00043 | Galactose Metabolism |
| smpdb | SMP00182 | Galactosemia |
| smpdb | SMP00495 | Galactosemia II (GALK) |
| smpdb | SMP00496 | Galactosemia III |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-5609975 | Diseases associated with glycosylation precursor biosynthesis |
| reactome | R-HSA-5609977 | Defective GALE can cause Epimerase-deficiency galactosemia (EDG) |
| reactome | R-HSA-70370 | Galactose catabolism |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GALE
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