GALE - UDP-galactose-4-epimerase Gene

Also Known as SDR1E1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2582

About GALE

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,795,599-23,800,754 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues.

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 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]

GALE Products (3)

mRNA	Protein	Name
NM_000403.4	NP_000394.2	UDP-glucose 4-epimerase
NM_001008216.2	NP_001008217.1	UDP-glucose 4-epimerase
NM_001127621.2	NP_001121093.1	UDP-glucose 4-epimerase

GALE Protein Structure

Epimerase

0
100
200
300
348 a.a.

Protein Preferred Names	Protein Names
UDP-glucose 4-epimerase	UDP galactose-4'-epimerase

GALE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Array	31515488
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Array	25502805
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Prey Pooling	32296183
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Validated Y2H	32296183
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Array	25416956
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Array	32296183
Intra	GALE	Q14376	NSF	Homo sapiens	P46459	Anti Tag CoIP	33961781
Intra	GALE	Q14376	KLHL24	Homo sapiens	Q6TFL4	Anti Tag CoIP	33961781
Intra	GALE	Q14376	GALE	Homo sapiens	Q14376	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GALE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70418	UDP-glucose 4-epimerase/GALE Protein, Human (His)	Q14376-1 (M1-A348)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Galactosemia Iii	Galactose Epimerase Deficiency Gale Deficiency Udp-Galactose-4-Epimerase Deficiency Epimerase Deficiency Galactosemia Galactosemia Type 3 Gale-D Uridine Diphosphate Galactose-4-Epimerase Deficiency GALAC3 Galactosemia 3 Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency Galactosemia Type Iii Udp-Galactose-4'-Epimerase Deficiency Generalized Galactose Epimerase Deficiency Generalized Gale Deficiency Generalized Gale-D Generalized Udp-Galactose-4-Epimerase Deficiency Generalized Epimerase Deficiency Galactosemia Erythrocyte Galactose Epimerase Deficiency Erythrocyte Gale Deficiency Erythrocyte Gale-D Erythrocyte Udp-Galactose-4-Epimerase Deficiency Erythrocyte Epimerase Deficiency Galactosemia Galactosemias Classical Galactosemia Udpglucose 4-Epimerase Deficiency Disease
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Guillain-Barre Syndrome	Guillain-Barré Syndrome Acute Inflammatory Polyneuropathy Gbs Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Infective Polyneuritis Acute Inflammatory Demyelinating Polyradiculopathy Acute Postinfectious Polyneuropathy Infectious Neuronitis Post-Infectious Polyneuritis Postinfectious Polyneuritis Acute Autoimmune Peripheral Neuropathy Acute Immune-Mediated Polyneuropathy Acute Inflammatory Neuropathy Guillain-Barré-Strohl Syndrome Landry'S Ascending Paralysis Landry-Guillain-Barre-Strohl Syndrome Post-Infective Polyneuritis Acute Infectious Polyneuritis Fisher Syndrome Landry-Guillain-Barre Syndrome Guillain-Barre-Strohl Syndrome Variant Of Guillain-Barre Syndrome Variant Of Gbs Aidp Acute Idiopathic Demyelinating Polyneuropathy Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Miller Fisher Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Paratyphoid Fever	Paratyphoid B Fever Paratyphoid C Fever Paratyphoid Fever A Paratyphoid Fever B Paratyphoid Fever C Paratyphoid Paratyphoid A Paratyphoid A Fever Paratyphoid B Paratyphoid C Infection Due To Salmonella Paratyphi
Spherocytosis, Type 3	Hereditary Spherocytosis Type 3 SPH3 Hs3 Spherocytosis, Hereditary, 3 Hereditary Spherocytosis 3 Spherocytosis 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70021	UDP-Glc 4-epimerase (GalE)		/	Unkown
HY-RS05242	GALE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W415856	β-D-galactose		/	Unkown
HY-RS17806	Gale Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24274	Gale Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GALE	RGD	RGD:621493
Bos taurus	GALE	VGNC	VGNC:29218
Felis catus	GALE	VGNC	VGNC:62438
Macaca mulatta	GALE	VGNC	VGNC:72868
Mus musculus	GALE	MGD	MGI:1921496
Canis familiaris	GALE	VGNC	VGNC:41080
Others	GALE	NCBI