InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GALE

Summary

InnateDB Protein

IDBP-94026.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GALE

Protein Name

UDP-galactose-4-epimerase

Synonyms

SDR1E1;

Species

Homo sapiens

Ensembl Protein

ENSP00000363621

InnateDB Gene

IDBG-94020 (GALE)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Disease Associations

Epimerase-deficiency galactosemia (EDG) [MIM:230350]: Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. {ECO:0000269PubMed:11903335, ECO:0000269PubMed:16301867, ECO:0000269PubMed:9326324, ECO:0000269PubMed:9538513, ECO:0000269PubMed:9973283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001509 NAD-dependent epimerase/dehydratase, N-terminal domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
IPR003869 Polysaccharide biosynthesis protein, CapD-like domain
IPR005886 UDP-glucose 4-epimerase GalE
IPR005913 dTDP-4-dehydrorhamnose reductase
IPR008089 Nucleotide sugar epimerase
IPR013120 Male sterility, NAD-binding
IPR013968 Polyketide synthase, KR

PFAM