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Aliases for GALE Gene

Aliases for GALE Gene

  • UDP-Galactose-4-Epimerase 2 3
  • 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-Glucose 4-Epimerase 2 3
  • UDP-GalNAc 4-Epimerase 3 4
  • UDP-GlcNAc 4-Epimerase 3 4
  • Galactowaldenase 3 4
  • EC 5.1.3.2 4 64
  • Short Chain Dehydrogenase/Reductase Family 1E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 1E 2
  • UDP Galactose-4-Epimerase 3
  • EC 5.1.3.7 4
  • Member 1 2
  • EC 5.1.3 64
  • SDR1E1 3

External Ids for GALE Gene

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 epimerase deficiency galactosemia and erythrocyte galactose epimerase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and UDP-glucose 4-epimerase activity. An important paralog of this gene is TGDS.

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

Genomic Location for GALE Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GALE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALE Gene

Regulatory Elements for GALE Gene

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

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 accomodate 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys100 and Lys338

Other Protein References for GALE Gene

Domains for GALE Gene

Gene Families for GALE Gene

HGNC:
  • SDRE :Short chain dehydrogenase/reductase superfamily / Extended SDR fold

UniProtKB/Swiss-Prot:

GALE_HUMAN
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family.:
    • Q14376
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:0003824 catalytic activity --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity --
GO:0003974 UDP-N-acetylglucosamine 4-epimerase activity IEA --
GO:0003978 UDP-glucose 4-epimerase activity IDA 16302980
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with GALE: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 4
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GALE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GALE: view

Pathways for GALE Gene

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

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:0005975 carbohydrate metabolic process TAS --
GO:0006012 galactose metabolic process --
GO:0006694 steroid biosynthetic process --
GO:0008152 metabolic process --
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with GALE: view

Compounds for GALE Gene

(6) HMDB Compounds for GALE Gene

Compound Synonyms Cas Number PubMed IDs
dTDP-D-galactose
  • dTDP-D-galactose
5817-97-0
dTDP-D-glucose
  • Mono-a-D-glucopyranosyl ester
2196-62-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Uridine diphosphate glucose
  • (UPD)-glucose
133-89-1

(7) Drugbank Compounds for GALE Gene

(13) Novoseek inferred chemical compound relationships for GALE Gene

Compound -log(P) Hits PubMed IDs
udpglucose 93.5 55
udp-n-acetylgalactosamine 91.1 4
galactose-1-phosphate 86.4 14
galactose 79.8 31
udp-n-acetylglucosamine 71 2
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 (4.4).

Integrated Proteomics: protein expression 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 expressions with GALE: view

Orthologs for GALE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALE 36
  • 99.71 (n)
  • 99.71 (a)
GALE 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALE 36
  • 91.67 (n)
  • 95.98 (a)
GALE 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALE 36
  • 90.13 (n)
  • 93.39 (a)
GALE 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gale 36
  • 89.11 (n)
  • 93.93 (a)
Gale 16
Gale 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALE 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 22 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gale 36
  • 89.08 (n)
  • 92.82 (a)
chicken
(Gallus gallus)
Aves GALE 36
  • 73.93 (n)
  • 76.16 (a)
GALE 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALE 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia 1n569-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gale 36
  • 68.68 (n)
  • 75.29 (a)
Str.6827 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10030 36
zebrafish
(Danio rerio)
Actinopterygii gale 36
  • 69.48 (n)
  • 73.76 (a)
gale 37
  • 73 (a)
OneToOne
wufb05f01 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012261 36
  • 62.21 (n)
  • 64.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gale 36
  • 63.95 (n)
  • 60.64 (a)
Gale 37
  • 59 (a)
OneToOne
CG12030 38
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea gale-1 36
  • 55.29 (n)
  • 57.94 (a)
gale-1 37
  • 56 (a)
OneToOne
C47B2.6 38
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL10 37
  • 27 (a)
OneToMany
GAL10 39
thale cress
(Arabidopsis thaliana)
eudicotyledons UGE5 36
  • 57.77 (n)
  • 61.29 (a)
rice
(Oryza sativa)
Liliopsida Os05g0595100 36
  • 61.55 (n)
  • 60.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uge1 36
  • 55.96 (n)
  • 56.46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2746 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8712 37
  • 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 MAF
rs760941 Benign 23,796,496(+) TGGGG(C/G/T)GGGGG intron-variant
rs2473382 -- 23,799,487(+) AGGAA(A/G)GGGTT intron-variant, utr-variant-5-prime
rs3177810 -- 23,796,925(+) GCCTC(A/C)CGTCG reference, synonymous-codon
rs3177811 -- 23,796,905(+) CATTG(C/G)CAAAG missense, reference
rs3177812 -- 23,796,545(+) ACCAT(C/T)TGCAG synonymous-codon, reference

Relevant External Links for GALE Gene

HapMap Linkage Disequilibrium report
GALE
Human Gene Mutation Database (HGMD)
GALE

No data available for Structural Variations from Database of Genomic Variants (DGV) for GALE Gene

Disorders for GALE Gene

(1) OMIM Diseases for GALE Gene (606953)

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.

(2) University of Copenhagen DISEASES for GALE Gene

(3) Novoseek inferred disease relationships for GALE Gene

Disease -log(P) Hits PubMed IDs
gale deficiency 98.5 17
galactosemias 92.1 22
cataract 0 2

Genatlas disease for GALE Gene

galactosemia,type III

Relevant External Links for GALE

Genetic Association Database (GAD)
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
  2. Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. (PMID: 9973283) Wohlers T.M. … Fridovich-Keil J.L. (Am. J. Hum. Genet. 1999) 3 4 23 49
  3. 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 4 23 25
  4. Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase. (PMID: 10801319) Thoden J.B. … Holden H.M. (Biochemistry 2000) 3 4 23
  5. Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. (PMID: 9326324) Quimby B.B. … Fridovich-Keil J.L. (Am. J. Hum. Genet. 1997) 3 4 23

Products for GALE Gene

Sources for GALE Gene

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