GALE

Protein identityUniProt · HPA

UniProt accession

Q14376

Gene

GALE

Ensembl

ENSG00000117308

Chromosome

1

Canonical length

348 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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 cognitive disability, 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]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>Q14376|GALE
     1  MAEKVLVTGG AGYIGSHTVL ELLEAGYLPV VIDNFHNAFR GGGSLPESLR RVQELTGRSV
    61  EFEEMDILDQ GALQRLFKKY SFMAVIHFAG LKAVGESVQK PLDYYRVNLT GTIQLLEIMK
   121  AHGVKNLVFS SSATVYGNPQ YLPLDEAHPT GGCTNPYGKS KFFIEEMIRD LCQADKTWNA
   181  VLLRYFNPTG AHASGCIGED PQGIPNNLMP YVSQVAIGRR EALNVFGNDY DTEDGTGVRD
   241  YIHVVDLAKG HIAALRKLKE QCGCRIYNLG TGTGYSVLQM VQAMEKASGK KIPYKVVARR
   301  EGDVAACYAN PSLAQEELGW TAALGLDRMC EDLWRWQKQN PSGFGTQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

116 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALE.

Disease | AllUniProt

Conditions GALE is implicated in, by any mechanism.

• Galactosemia 3 (GALAC3) MIM:230350
• Thrombocytopenia 13, syndromic (THC13) MIM:620776

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 432 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• UDPglucose-4-epimerase deficiency
• Thrombocytopenia 13, syndromic
• Galactosemia III, severe
• Inborn genetic diseases
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.39

gnomAD pLI

0

gnomAD missense Z

-0.32

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• galactose catabolic process
• galactose catabolic process via UDP-galactose, Leloir pathway

Molecular functions

• identical protein binding
• protein homodimerization activity
• UDP-glucose 4-epimerase activity
• UDP-N-acetylglucosamine 4-epimerase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• NAD(P)-binding domain
• NAD(P)-binding domain superfamily
• GDP-mannose 4,6 dehydratase
• UDP-glucose 4-epimerase

KeywordsUniProt

• Carbohydrate metabolism
• Galactose metabolism
• Isomerase
• NAD