Tchem GALE UDP-glucose 4-epimerase

Protein Summary

Description

Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids. 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]

Uniprot Accession IDs

• Q14376
• A0A024RAH5
• B3KQ39
• Q38G75
• Q86W41
• Q9BVE3
• Q9UJB4

Gene Name

• GALE

Ensembl ID

• ENST00000374497
• ENSP00000363621
• ENSG00000117308
• ENST00000617979
• ENSP00000483375

Symbol

• SDR1E1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.84
transcription factor	0.77
protein domain	0.73
transcription factor binding site profile	0.7
interacting protein	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 406.78   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 280   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 406.78   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 280   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (1)

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1 – 1 of 1

haloprogin

GALETchem Enzyme

pKi : 6.37

Active Ligands (1)

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1 – 1 of 1

Ebselen

GALETchem Enzyme

pKi : 7.03

Protein-Protein Interactions (119)

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1 – 10 of 119

• See Interactions on String-DB

POP5

Tbio

Family:  Enzyme

Novelty:  0.02459167

p_int:  0.998209564

p_ni:  0.00179027

p_wrong:  1.66e-7

Data Source:  BioPlex

FAM24B

Tdark

Novelty:  1.04675689

p_int:  0.996756401

p_ni:  0.003242547

p_wrong:  0.000001052

Data Source:  BioPlex

GALT

Tbio

Family:  Enzyme

Novelty:  0.0120291

Score:  0.999

Data Source:  STRINGDB

UGP2

Tbio

Family:  Enzyme

Novelty:  0.00760963

Score:  0.989

Data Source:  STRINGDB

GALK1

Tbio

Family:  Kinase

Novelty:  0.00156677

Score:  0.988

Data Source:  STRINGDB

UGDH

Tbio

Family:  Enzyme

Novelty:  0.00284931

Score:  0.987

Data Source:  STRINGDB

GALK2

Tbio

Family:  Kinase

Novelty:  0.06382824

Score:  0.985

Data Source:  STRINGDB

GALM

Tbio

Family:  Enzyme

Novelty:  0.01067063

Score:  0.962

Data Source:  STRINGDB

UAP1

Tbio

Family:  Enzyme

Novelty:  0.02034314

Score:  0.959

Data Source:  STRINGDB

B4GALT1

Tbio

Family:  Enzyme

Novelty:  0.0073693

Score:  0.916

Data Source:  STRINGDB

Nearest Tclin Targets (2)

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Upstream (2)

1 – 2 of 2

AKR1B1

Tclin

Family:  Enzyme

KEGG Distance:  3

Common Pathways:  2

1: Metabolic pathways

2: Galactose metabolism

GLA

Tclin

Family:  Enzyme

KEGG Distance:  3

Common Pathways:  2

1: Metabolic pathways

2: Galactose metabolism

Pathways (17)

Reactome (7)

KEGG (3)

PathwayCommons (6)

UniProt (1)

Defective GALE can cause Epimerase-deficiency galactosemia (EDG) (R-HSA-5609977)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Defective GALE can cause Epimerase-deficiency galactosemia (EDG)	1 targets	R-HSA-5609977
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975
Reactome	Diseases of glycosylation	146 targets	R-HSA-3781865
Reactome	Galactose catabolism	5 targets	R-HSA-70370

Name	Explore in Pharos	Explore in Source
Defective GALE can cause Epimerase-deficiency galactosemia (EDG)	1 targets	R-HSA-5609977
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosylation precursor biosynthesis	18 targets	R-HSA-5609975
Diseases of glycosylation	146 targets	R-HSA-3781865
Galactose catabolism	5 targets	R-HSA-70370

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (6)

Functions (4)

Components (1)

Processes (1)

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1 – 4 of 4

GO Term	Evidence	Assigned by
UDP-glucose 4-epimerase activity	Inferred from Direct Assay (IDA)	UniProtKB
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
protein homodimerization activity	Inferred from Physical Interaction (IPI)	UniProtKB
UDP-N-acetylglucosamine 4-epimerase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC

Disease Associations ()

No disease associations found

GWAS Traits (5)

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5

1 – 5 of 5

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte count	EFO_0007986	6	4	6		92.4
eosinophil count	EFO_0004842	3	3	3		91.9
reticulocyte measurement	EFO_0010700	3	2	3		90.5
eosinophil percentage of leukocytes	EFO_0007991	2	2	2		85.5
eosinophil percentage of granulocytes	EFO_0007996	1	1	1		35

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte count	EFO_0007986	6		92.4
eosinophil count	EFO_0004842	3		91.9
reticulocyte measurement	EFO_0010700	3		90.5
eosinophil percentage of leukocytes	EFO_0007991	2		85.5
eosinophil percentage of granulocytes	EFO_0007996	1		35

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Carbohydrate metabolism
Complete proteome
Disease mutation
Galactose metabolism
Isomerase
NAD
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
eosinophil count
eosinophil percentage of granulocytes
eosinophil percentage of leukocytes
reticulocyte count
reticulocyte measurement

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	UDP-galactose-4-epimerase	VGNC:11436	456623
Macaque	UDP-galactose-4-epimerase		710553
Mouse	galactose-4-epimerase, UDP	MGI:1921496	74246
Rat	UDP-galactose-4-epimerase	RGD:621493	114860
Dog	UDP-galactose-4-epimerase	VGNC:41080	100855555

Species	Name	OMA	EggNOG	Inparanoid
Chimp	UDP-galactose-4-epimerase
Macaque	UDP-galactose-4-epimerase
Mouse	galactose-4-epimerase, UDP
Rat	UDP-galactose-4-epimerase
Dog	UDP-galactose-4-epimerase

Publication Statistics

PubMed Score 406.78

PubMed score by year

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PubTator Score 115.16

PubTator score by year

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Related Publications

Text Mined References (37)

GeneRif Annotations (12)

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PMID	Year	Title