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Identification
HMDB Protein ID HMDBP00904
Secondary Accession Numbers
  • 6192
  • HMDBP04419
Name UDP-glucose 4-epimerase
Synonyms
  1. Galactowaldenase
  2. UDP-galactose 4-epimerase
Gene Name GALE
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific Function 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.
Pathways
  • Amino sugar and nucleotide sugar metabolism
  • Galactose metabolism
  • Galactose Metabolism
  • Galactosemia
  • Galactosemia II (GALK)
  • Galactosemia III
  • Nucleotide Sugars Metabolism
Reactions
Uridine diphosphate glucose → Uridine diphosphategalactose details
dTDP-D-glucose → dTDP-D-galactose details
GO Classification
Biological Process
small molecule metabolic process
galactose catabolic process
cellular metabolic process
Cellular Component
cytosol
Function
binding
catalytic activity
udp-glucose 4-epimerase activity
racemase and epimerase activity
racemase and epimerase activity, acting on carbohydrates and derivatives
coenzyme binding
cofactor binding
isomerase activity
Molecular Function
UDP-glucose 4-epimerase activity
nucleotide binding
coenzyme binding
Process
metabolic process
galactose metabolic process
primary metabolic process
carbohydrate metabolic process
cellular metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
Cellular Location Not Available
Gene Properties
Chromosome Location 1
Locus 1p36-p35
SNPs GALE
Gene Sequence
>1047 bp
ATGGCAGAGAAGGTGCTGGTAACAGGTGGGGCTGGCTACATTGGCAGCCACACGGTGCTG
GAGCTGCTGGAGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGT
GGAGGGGGCTCCCTGCCTGAGAGCCTGCGGCGGGTCCAGGAGCTGACAGGCCGCTCTGTG
GAGTTTGAGGAGATGGACATTTTGGACCAGGGAGCCCTACAGCGTCTCTTCAAAAAGTAC
AGCTTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAG
CCTCTGGATTATTACAGAGTTAACCTGACCGGGACCATCCAGCTTCTGGAGATCATGAAG
GCCCACGGGGTGAAGAACCTGGTGTTCAGCAGCTCAGCCACTGTGTACGGGAACCCCCAG
TACCTGCCCCTTGATGAGGCCCACCCCACGGGTGGTTGTACCAACCCTTACGGCAAGTCC
AAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGACTTGGAACGTA
GTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGCCTCTGGCTGCATTGGTGAGGAT
CCCCAGGGCATACCCAACAACCTCATGCCTTATGTCTCCCAGGTGGCGATCGGGCGACGG
GAGGCCCTGAATGTCTTTGGCAATGACTATGACACAGAGGATGGCACAGGTGTCCGGGAT
TACATCCATGTCGTGGATCTGGCCAAGGGCCACATTGCAGCCTTAAGGAAGCTGAAAGAA
CAGTGTGGCTGCCGGATCTACAACCTGGGCACGGGCACAGGCTATTCAGTGCTGCAGATG
GTCCAGGCTATGGAGAAGGCCTCTGGGAAGAAGATCCCGTACAAGGTGGTGGCACGGCGG
GAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAGCCTGGCCCAAGAGGAGCTGGGGTGG
ACAGCAGCCTTAGGGCTGGACAGGATGTGTGAGGATCTCTGGCGCTGGCAGAAGCAGAAT
CCTTCAGGCTTTGGCACGCAAGCCTGA
Protein Properties
Number of Residues 348
Molecular Weight 38281.435
Theoretical pI 6.721
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>UDP-glucose 4-epimerase
MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSV
EFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMK
AHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNA
VLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRD
YIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARR
EGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA
GenBank ID Protein 1119217
UniProtKB/Swiss-Prot ID Q14376
UniProtKB/Swiss-Prot Entry Name GALE_HUMAN
PDB IDs
GenBank Gene ID L41668
GeneCard ID GALE
GenAtlas ID GALE
HGNC ID HGNC:4116
References
General References
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  3. Daude N, Gallaher TK, Zeschnigk M, Starzinski-Powitz A, Petry KG, Haworth IS, Reichardt JK: Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. Biochem Mol Med. 1995 Oct;56(1):1-7. [PubMed:8593531 ]
  4. Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J: Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab. 1998 Jan;63(1):26-30. [PubMed:9538513 ]
  5. Schulz JM, Watson AL, Sanders R, Ross KL, Thoden JB, Holden HM, Fridovich-Keil JL: Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase. J Biol Chem. 2004 Jul 30;279(31):32796-803. Epub 2004 Jun 2. [PubMed:15175331 ]
  6. Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM: Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase. Biochemistry. 2000 May 16;39(19):5691-701. [PubMed:10801319 ]
  7. Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. J Biol Chem. 2001 Jun 8;276(23):20617-23. Epub 2001 Mar 7. [PubMed:11279193 ]
  8. Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL: Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. Am J Hum Genet. 1997 Sep;61(3):590-8. [PubMed:9326324 ]
  9. Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL: Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am J Hum Genet. 1999 Feb;64(2):462-70. [PubMed:9973283 ]
  10. Wohlers TM, Fridovich-Keil JL: Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. J Inherit Metab Dis. 2000 Nov;23(7):713-29. [PubMed:11117433 ]
  11. Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL: A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. Clin Genet. 2001 Nov;60(5):350-5. [PubMed:11903335 ]
  12. Timson DJ: Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. FEBS J. 2005 Dec;272(23):6170-7. [PubMed:16302980 ]
  13. Park HD, Park KU, Kim JQ, Shin CH, Yang SW, Lee DH, Song YH, Song J: The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. Genet Med. 2005 Nov-Dec;7(9):646-9. [PubMed:16301867 ]
  14. Wasilenko J, Lucas ME, Thoden JB, Holden HM, Fridovich-Keil JL: Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. Mol Genet Metab. 2005 Jan;84(1):32-8. [PubMed:15639193 ]