GALE
entrez
2582
canonical
uniprot
Q14376
canonical
ensembl
ENSG00000117308
resolver
ensp
ENSP00000363621
resolver
ensp
ENSP00000483375
resolver
ensp
ENSP00000628061
resolver
genesymbol
GALE
resolver
hgnc
HGNC:4116
resolver
uniprot
A0A024RAH5
resolver
uniprot
A0A384NL38
resolver
uniprot
B3KQ39
resolver
uniprot
Q38G75
resolver
uniprot
Q86W41
resolver
uniprot
Q9BVE3
resolver
uniprot
Q9UJB4
resolver
uniprot_entry
A0A384NL38_HUMAN
resolver
uniprot_entry
GALE_HUMAN
resolver
uniprot_sec
A0A024RAH5
resolver
uniprot_sec
B3KQ39
resolver
uniprot_sec
Q38G75
resolver
uniprot_sec
Q86W41
resolver
uniprot_sec
Q9BVE3
resolver
uniprot_sec
Q9UJB4
resolver
amino_acid_sequence
MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSVEFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA
uniprot
proteins
disease_involvement
DISEASE: Galactosemia 3 (GALAC3) [MIM:230350]: 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. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability. {ECO:0000269|PubMed:11279193, ECO:0000269|PubMed:11903335, ECO:0000269|PubMed:15639193, ECO:0000269|PubMed:16301867, ECO:0000269|PubMed:16302980, ECO:0000269|PubMed:9326324, ECO:0000269|PubMed:9538513, ECO:0000269|PubMed:9973283}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Thrombocytopenia 13, syndromic (THC13) [MIM:620776]: An autosomal recessive form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC13 patients have enlarged, gray platelets with defective function. Some affected individuals have leukopenia or anemia and pancytopenia. Additional variable features include mitral valve malformations, pyloric stenosis, and impaired intellectual development. {ECO:0000269|PubMed:30247636, ECO:0000269|PubMed:33510604, ECO:0000269|PubMed:34159722, ECO:0000269|PubMed:36395340}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.3.2
uniprot
proteins
ec_number
5.1.3.7
uniprot
proteins
function
FUNCTION: Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids. {ECO:0000269|PubMed:22654673, ECO:0000303|PubMed:23732289}.
uniprot
proteins
mass_dalton
38282
uniprot
proteins
mutagenesis
MUTAGEN 81; /note="S->R: 5-fold decreased catalytic efficiency for UDP-galactose epimerization."; /evidence="ECO:0000269|PubMed:18188677"; MUTAGEN 132; /note="S->A: Loss of activity."; /evidence="ECO:0000269|PubMed:15175331"; MUTAGEN 157; /note="Y->F: Loss of activity."; /evidence="ECO:0000269|PubMed:15175331"; MUTAGEN 307; /note="C->Y: No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine."; /evidence="ECO:0000269|PubMed:15175331
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; galactose metabolism.
uniprot
proteins
protein_family
NAD(P)-dependent epimerase/dehydratase family
uniprot
proteins
pubmed
10801319
uniprot
proteins
pubmed
11117433
uniprot
proteins
pubmed
11279032
uniprot
proteins
pubmed
11279193
uniprot
proteins
pubmed
11903335
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15175331
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15639193
uniprot
proteins
pubmed
16301867
uniprot
proteins
pubmed
16302980
uniprot
proteins
pubmed
16385452
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18188677
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22654673
uniprot
proteins
pubmed
23732289
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30247636
uniprot
proteins
pubmed
33510604
uniprot
proteins
pubmed
34159722
uniprot
proteins
pubmed
36395340
uniprot
proteins
pubmed
8593531
uniprot
proteins
pubmed
9326324
uniprot
proteins
pubmed
9538513
uniprot
proteins
pubmed
9973283
uniprot
proteins
sequence_length
348
uniprot
proteins