GALE (UDP-galactose-4-epimerase)

2003-05-01  

Identity

HGNC
GALE
LOCATION
1p36.11
LOCUSID
2582
ALIAS
SDR1E1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2582
MIM: 606953
HGNC: 4116
Ensembl: ENSG00000117308

Variants:

dbSNP: 2582
ClinVar: 2582
TCGA: ENSG00000117308
COSMIC: GALE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117308ENST00000374497Q14376
ENSG00000117308ENST00000374497A0A384NL38
ENSG00000117308ENST00000418277Q5QPP3
ENSG00000117308ENST00000425913Q5QPP1
ENSG00000117308ENST00000429356Q5QPP4
ENSG00000117308ENST00000445705Q5QPP1
ENSG00000117308ENST00000456977Q5QPP9
ENSG00000117308ENST00000617979Q14376
ENSG00000117308ENST00000617979A0A384NL38

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Amino sugar and nucleotide sugar metabolismKEGGko00520
Galactose metabolismKEGGhsa00052
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, eukaryotesKEGGhsa_M00361
Nucleotide sugar biosynthesis, eukaryotesKEGGM00361
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGhsa_M00632
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGM00632
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Galactose catabolismREACTOMER-HSA-70370

References

Pubmed IDYearTitleCitations
151753312004Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.21
157016382005Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.17
163029802005Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.13
163029802005Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.13
261627442015UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.9
181886772008Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.8
251501102014The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.8
192503192009Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.7
226133552012Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.7
302476362019Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).5

Citation

Dessen P

GALE (UDP-galactose-4-epimerase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40683/gale