Version 5.4
Homo sapiens Gene: GALE
Summary
InnateDB Gene IDBG-94020.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GALE
Gene Name UDP-galactose-4-epimerase
Synonyms SDR1E1
Species Homo sapiens
Ensembl Gene ENSG00000117308
Encoded Proteins
IDBP-94026
UDP-galactose-4-epimerase
IDBP-375078
UDP-galactose-4-epimerase
IDBP-375080
UDP-galactose-4-epimerase
IDBP-375083
UDP-galactose-4-epimerase
IDBP-375085
UDP-galactose-4-epimerase
IDBP-375087
UDP-galactose-4-epimerase
IDBP-809568
UDP-galactose-4-epimerase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 mental retardation, 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]
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 mental retardation, 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:23795599-23800804
Strand Reverse strand
Band p36.11
Transcripts
ENST00000374497 ENSP00000363621
ENST00000456977 ENSP00000397045
ENST00000429356 ENSP00000398585
ENST00000418277 ENSP00000414719
ENST00000425913 ENSP00000393359
ENST00000445705 ENSP00000398257
ENST00000481736
ENST00000459934
ENST00000469556
ENST00000470949
ENST00000467493
ENST00000486382
ENST00000470383
ENST00000466250
ENST00000467070
ENST00000617979 ENSP00000483375
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0003978 UDP-glucose 4-epimerase activity
GO:0016491 oxidoreductase activity
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0042803 protein homodimerization activity
GO:0050662 coenzyme binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006012 galactose metabolic process
GO:0006694 steroid biosynthetic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0019388 galactose catabolic process
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028671
View Gene Order
ENSBTAG00000005002
Not yet available
Pathways
NETPATH
REACTOME
REACT_532
Galactose catabolism pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_111217
Metabolism pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
KEGG
hsa00052
Galactose metabolism pathway
hsa00520
Amino sugar and nucleotide sugar metabolism pathway
INOH
INOH website
Galactose metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL Q5QPP9
UniProt Splice Variant
Entrez Gene 2582
UniGene Hs.632380 Hs.676617 Hs.713486
RefSeq NM_000403 NM_001008216 NM_001127621
HUGO HGNC:4116
OMIM 606953
CCDS CCDS242
HPRD 06092
IMGT
EMBL AL031295
GenPept
RNA Seq Atlas 2582

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca