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Aliases for GALE Gene

Aliases for GALE Gene

  • UDP-Galactose-4-Epimerase 2 3 5
  • UDP-N-Acetylgalactosamine 4-Epimerase 3 4
  • UDP-N-Acetylglucosamine 4-Epimerase 3 4
  • Galactose-4-Epimerase, UDP- 2 3
  • UDP-Galactose 4-Epimerase 3 4
  • UDP-GalNAc 4-Epimerase 3 4
  • UDP-GlcNAc 4-Epimerase 3 4
  • Galactowaldenase 3 4
  • EC 5.1.3.2 4 63
  • Short Chain Dehydrogenase/Reductase Family 1E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 1E 2
  • UDP Galactose-4-Epimerase 3
  • UDP-Glucose 4-Epimerase 2
  • EC 5.1.3.7 4
  • Member 1 2
  • EC 5.1.3 63
  • SDR1E1 3

External Ids for GALE Gene

Previous GeneCards Identifiers for GALE Gene

  • GC01M023679
  • GC01M023194
  • GC01M023591
  • GC01M023867
  • GC01M023994
  • GC01M024122
  • GC01M022374

Summaries for GALE Gene

Entrez Gene Summary for GALE 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 mental retardation, 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]

GeneCards Summary for GALE Gene

GALE (UDP-Galactose-4-Epimerase) is a Protein Coding gene. Diseases associated with GALE include Galactose Epimerase Deficiency and Generalized Galactose Epimerase Deficiency. Among its related pathways are Galactose metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is UXS1.

UniProtKB/Swiss-Prot for GALE Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALE Gene

Genomics for GALE Gene

Regulatory Elements for GALE Gene

Enhancers for GALE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GALE on UCSC Golden Path with GeneCards custom track

Promoters for GALE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GALE on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GALE gene promoter:

Genomic Location for GALE Gene

Chromosome:
1
Start:
23,795,599 bp from pter
End:
23,800,804 bp from pter
Size:
5,206 bases
Orientation:
Minus strand

Genomic View for GALE Gene

Genes around GALE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALE Gene

Proteins for GALE Gene

  • Protein details for GALE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14376-GALE_HUMAN
    Recommended name:
    UDP-glucose 4-epimerase
    Protein Accession:
    Q14376
    Secondary Accessions:
    • A0A024RAH5
    • B3KQ39
    • Q38G75
    • Q86W41
    • Q9BVE3
    • Q9UJB4

    Protein attributes for GALE Gene

    Size:
    348 amino acids
    Molecular mass:
    38282 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Contrary to the human enzyme, the E.coli ortholog (AC P09147) does not catalyze the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. Compared to the E.coli enzyme, the sugar-binding pocket of the active site is 15% larger for the human enzyme, making it possible to accommodate the acetyl group.
    SequenceCaution:
    • Sequence=EAW95083.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95084.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95086.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95090.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95091.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95092.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW95093.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GALE Gene

    Alternative splice isoforms for GALE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALE Gene

Proteomics data for GALE Gene at MOPED

Post-translational modifications for GALE Gene

  • Ubiquitination at Lys 338
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GALE

Domains & Families for GALE Gene

Gene Families for GALE Gene

Graphical View of Domain Structure for InterPro Entry

Q14376

UniProtKB/Swiss-Prot:

GALE_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.
genes like me logo Genes that share domains with GALE: view

Function for GALE Gene

Molecular function for GALE Gene

GENATLAS Biochemistry:
UDP-galactose-4-epimerase,38kDa
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=69 uM for UDP-galactose (at 37 degrees Celsius and pH 8.8) {ECO:0000269 PubMed:11117433, ECO:0000269 PubMed:16302980}; Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate {ECO:0000269 PubMed:11117433, ECO:0000269 PubMed:16302980};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucose = UDP-alpha-D-galactose.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine = UDP-N-acetyl-alpha-D-galactosamine.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for GALE Gene

Gene Ontology (GO) - Molecular Function for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003978 UDP-glucose 4-epimerase activity IEA,IDA 16302980
genes like me logo Genes that share ontologies with GALE: view
genes like me logo Genes that share phenotypes with GALE: view

Human Phenotype Ontology for GALE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GALE Gene

Localization for GALE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALE Gene COMPARTMENTS Subcellular localization image for GALE gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GALE Gene

Pathways & Interactions for GALE Gene

genes like me logo Genes that share pathways with GALE: view

Pathways by source for GALE Gene

UniProtKB/Swiss-Prot Q14376-GALE_HUMAN

  • Pathway: Carbohydrate metabolism; galactose metabolism.

Gene Ontology (GO) - Biological Process for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GALE: view

No data available for SIGNOR curated interactions for GALE Gene

Drugs & Compounds for GALE Gene

(11) Drugs for GALE Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphategalactose Experimental Pharma Target 0
Glucose-Uridine-C1,5'-Diphosphate Experimental Pharma Target 0
Tetramethylammonium Ion Experimental Pharma Target 0
Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester Experimental Pharma Target 0
Uridine-Diphosphate-N-Acetylgalactosamine Experimental Pharma Target 0

(12) Additional Compounds for GALE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dTDP-D-galactose
  • Deoxythymidine diphosphate-D-galactose
  • dTDP-D-Galactose
  • Thymidine 5'-[3-(D-galactopyranosyl) dihydrogen diphosphate]
5817-97-0
dTDP-D-glucose
  • dTDP-D-Glucose
  • dTDP-delta-Glucose
  • dTDP-Glucose
  • DTDPglucose
  • Mono-a-D-glucopyranosyl ester
2196-62-5
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
133-89-1
genes like me logo Genes that share compounds with GALE: view

Transcripts for GALE Gene

Unigene Clusters for GALE Gene

UDP-galactose-4-epimerase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GALE Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10: - - - - -
SP11: - - - - - - -
SP12:
SP13:
SP14:
SP15: - - - - - - - -
SP16: - -
SP17:
SP18:
SP19:
SP20: -
SP21:

ExUns: 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c · 15d
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14: -
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:
SP21:

Relevant External Links for GALE Gene

GeneLoc Exon Structure for
GALE
ECgene alternative splicing isoforms for
GALE

Expression for GALE Gene

mRNA expression in normal human tissues for GALE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALE Gene

This gene is overexpressed in Stomach (x4.4).

Protein differential expression in normal tissues from HIPED for GALE Gene

This gene is overexpressed in Skin (15.0), Oral epithelium (12.5), and Salivary gland (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALE Gene



SOURCE GeneReport for Unigene cluster for GALE Gene Hs.632380

genes like me logo Genes that share expression patterns with GALE: view

Protein tissue co-expression partners for GALE Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GALE Gene

Orthologs for GALE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GALE 35
  • 91.67 (n)
  • 95.98 (a)
GALE 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALE 35
  • 90.13 (n)
  • 93.39 (a)
GALE 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gale 35
  • 89.11 (n)
  • 93.93 (a)
Gale 16
Gale 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALE 35
  • 99.71 (n)
  • 99.71 (a)
GALE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gale 35
  • 89.08 (n)
  • 92.82 (a)
oppossum
(Monodelphis domestica)
Mammalia GALE 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GALE 35
  • 73.93 (n)
  • 76.16 (a)
GALE 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALE 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gale 35
  • 68.68 (n)
  • 75.29 (a)
Str.6827 35
African clawed frog
(Xenopus laevis)
Amphibia 1n569-prov 35
zebrafish
(Danio rerio)
Actinopterygii gale 35
  • 69.48 (n)
  • 73.76 (a)
wufb05f01 35
gale 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10030 35
fruit fly
(Drosophila melanogaster)
Insecta CG12030 37
  • 60 (a)
Gale 35
  • 63.95 (n)
  • 60.64 (a)
Gale 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012261 35
  • 62.21 (n)
  • 64.24 (a)
worm
(Caenorhabditis elegans)
Secernentea C47B2.6 37
  • 57 (a)
gale-1 35
  • 55.29 (n)
  • 57.94 (a)
gale-1 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 36
  • 27 (a)
OneToMany
GAL10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UGE5 35
  • 57.77 (n)
  • 61.29 (a)
rice
(Oryza sativa)
Liliopsida Os05g0595100 35
  • 61.55 (n)
  • 60.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2746 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uge1 35
  • 55.96 (n)
  • 56.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8712 36
  • 54 (a)
OneToOne
Species with no ortholog for GALE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALE Gene

ENSEMBL:
Gene Tree for GALE (if available)
TreeFam:
Gene Tree for GALE (if available)

Paralogs for GALE Gene

Paralogs for GALE Gene

genes like me logo Genes that share paralogs with GALE: view

Variants for GALE Gene

Sequence variations from dbSNP and Humsavar for GALE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_002539 Epimerase-deficiency galactosemia (EDG)
rs28940882 Epimerase-deficiency galactosemia (EDG) 23,798,199(-) TGCGG(A/G)GCTCA reference, missense
rs28940883 Epimerase-deficiency galactosemia (EDG) 23,798,160(-) TCTGG(A/G)TTATT reference, missense
rs3204468 - 23,797,137(-) GAACG(C/T)AGTGC reference, missense
VAR_002543 Epimerase-deficiency galactosemia (EDG)

Variation tolerance for GALE Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALE Gene

Human Gene Mutation Database (HGMD)
GALE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GALE Gene

Disorders for GALE Gene

MalaCards: The human disease database

(8) MalaCards diseases for GALE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
galactose epimerase deficiency
  • udp galactose-4-epimerase
generalized galactose epimerase deficiency
  • generalized gale deficiency
erythrocyte galactose epimerase deficiency
  • erythrocyte gale deficiency
epimerase deficiency galactosemia
  • galactose epimerase deficiency
galactosemia
  • galactose epimerase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GALE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALE_HUMAN
  • 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:0000269 PubMed:11903335, ECO:0000269 PubMed:16301867, ECO:0000269 PubMed:9326324, ECO:0000269 PubMed:9538513, ECO:0000269 PubMed:9973283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALE Gene

galactosemia,type III

Relevant External Links for GALE

Genetic Association Database (GAD)
GALE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALE
genes like me logo Genes that share disorders with GALE: view

Publications for GALE Gene

  1. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. (PMID: 8593531) Daude N. … Reichardt J.K.V. (Biochem. Mol. Med. 1995) 2 3 4 23 67
  2. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. (PMID: 11279193) Thoden J.B. … Holden H.M. (J. Biol. Chem. 2001) 3 23 25
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells. (PMID: 19250319) Bang Y.L. … Song Y.H. (FEBS J. 2009) 3 23
  5. Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia. (PMID: 18188677) Chhay J.S. … Timson D.J. (J. Inherit. Metab. Dis. 2008) 3 23

Products for GALE Gene

Sources for GALE Gene

Content