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UniProt functional annotation for Q96C23 | ||
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| UniProt code: Q96C23. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Mutarotase that catalyzes the interconversion of beta-D- galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898). {ECO:0000269|PubMed:12753898, ECO:0000269|PubMed:30451973}. |
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| Catalytic activity: | |
Reaction=alpha-D-galactose = beta-D-galactose; Xref=Rhea:RHEA:28675, ChEBI:CHEBI:27667, ChEBI:CHEBI:28061; EC=5.1.3.3; Evidence={ECO:0000269|PubMed:12753898}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:28677; Evidence={ECO:0000305|PubMed:12753898}; |
| Catalytic activity: | |
Reaction=alpha-D-glucose = beta-D-glucose; Xref=Rhea:RHEA:10264, ChEBI:CHEBI:15903, ChEBI:CHEBI:17925; EC=5.1.3.3; Evidence={ECO:0000269|PubMed:12753898}; |
| Biophysicochemical properties: | |
Kinetic parameters: KM=37 mM for galactose (at 20 degrees Celsius) {ECO:0000269|PubMed:12753898}; KM=54 mM for glucose (at 20 degrees Celsius) {ECO:0000269|PubMed:12753898}; Note=kcat is 12000 s(-1) with galactose as substrate (PubMed:12753898). kcat is 4900 s(-1) with glucose as substrate (PubMed:12753898). {ECO:0000269|PubMed:12753898}; |
| Pathway: | |
Carbohydrate metabolism; hexose metabolism. {ECO:0000305|PubMed:12753898}. |
| Pathway: | |
Carbohydrate metabolism; galactose metabolism. {ECO:0000305|PubMed:12753898}. |
| Subunit: | |
Monomer. {ECO:0000269|PubMed:12753898, ECO:0000269|PubMed:15026423}. |
| Subcellular location: | |
Cytoplasm {ECO:0000305}. |
| Disease: | |
Galactosemia 4 (GALAC4) [MIM:618881]: A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. {ECO:0000269|PubMed:30451973}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the aldose epimerase family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=AAL62475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.