Mus musculus Gene: Gale
Summary
InnateDB Gene IDBG-197476.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Gale
Gene Name galactose-4-epimerase, UDP
Synonyms 2310002A12Rik; AI323962
Species Mus musculus
Ensembl Gene ENSMUSG00000028671
Encoded Proteins
galactose-4-epimerase, UDP
galactose-4-epimerase, UDP
galactose-4-epimerase, UDP
galactose-4-epimerase, UDP
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000117308:
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 4:135963727-135968178
Strand Forward strand
Band D3
Transcripts
ENSMUST00000102541 ENSMUSP00000099600
ENSMUST00000102540 ENSMUSP00000099599
ENSMUST00000149636 ENSMUSP00000117923
ENSMUST00000128929
ENSMUST00000143304 ENSMUSP00000119514
ENSMUST00000153542
ENSMUST00000150430
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
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:0008831 dTDP-4-dehydrorhamnose reductase 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: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:0045226 extracellular polysaccharide biosynthetic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005575 cellular_component
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Disease pathway
Galactose catabolism pathway
Metabolism pathway
Glycogen storage diseases pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
KEGG
Amino sugar and nucleotide sugar metabolism pathway
Galactose metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Galactose catabolism pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glycogen storage diseases pathway
KEGG
Galactose metabolism pathway
Amino sugar and nucleotide sugar metabolism pathway
INOH
Galactose metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.247946 Mm.488791
RefSeq NM_178389 XM_006539217 XM_006539218 XM_006539219
OMIM
CCDS CCDS18796
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas