Human Gene GALE (ENST00000617979.5_7) from GENCODE V47lift37
  Description: UDP-galactose-4-epimerase, transcript variant 3 (from RefSeq NM_001127621.2)
Gencode Transcript: ENST00000617979.5_7
Gencode Gene: ENSG00000117308.15_16
Transcript (Including UTRs)
   Position: hg19 chr1:24,122,089-24,127,244 Size: 5,156 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr1:24,122,439-24,125,497 Size: 3,059 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:24,122,089-24,127,244)mRNA (may differ from genome)Protein (348 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GALE_HUMAN
DESCRIPTION: RecName: Full=UDP-glucose 4-epimerase; EC=5.1.3.2; AltName: Full=Galactowaldenase; AltName: Full=UDP-galactose 4-epimerase;
FUNCTION: 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.
CATALYTIC ACTIVITY: UDP-alpha-D-glucose = UDP-alpha-D-galactose.
COFACTOR: NAD.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=69 uM for UDP-galactose (at 37 degrees Celsius and pH 8.8); Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate;
PATHWAY: Carbohydrate metabolism; galactose metabolism.
SUBUNIT: Homodimer.
DISEASE: Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:230350]; also known as galactosemia type 3. 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.
SIMILARITY: Belongs to the sugar epimerase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALE";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: GALE
Diseases sorted by gene-association score: galactose epimerase deficiency* (1247), generalized galactose epimerase deficiency* (350), erythrocyte galactose epimerase deficiency* (350), epimerase deficiency galactosemia* (153), galactosemia (34), galactokinase deficiency with cataracts (11), guillain-barre syndrome (7), body dysmorphic disorder (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D014635 Valproic Acid
  • C006253 pirinixic acid
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D000082 Acetaminophen
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
  • D002110 Caffeine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.80119-0.368 Picture PostScript Text
3' UTR -118.80350-0.339 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025308 - Epimerase_C
IPR001509 - Epimerase_deHydtase
IPR005886 - GalE
IPR016040 - NAD(P)-bd_dom
IPR008089 - Nuc_sugar_epim

Pfam Domains:
PF01073 - 3-beta hydroxysteroid dehydrogenase/isomerase family
PF01370 - NAD dependent epimerase/dehydratase family
PF02719 - Polysaccharide biosynthesis protein
PF04321 - RmlD substrate binding domain
PF07993 - Male sterility protein
PF08659 - KR domain
PF16363 - GDP-mannose 4,6 dehydratase

SCOP Domains:
51658 - Xylose isomerase-like
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
53335 - S-adenosyl-L-methionine-dependent methyltransferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1EK5 - X-ray 1EK6 - X-ray 1HZJ - X-ray MuPIT 1I3K - X-ray MuPIT 1I3L - X-ray MuPIT 1I3M - X-ray MuPIT 1I3N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14376
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003974 UDP-N-acetylglucosamine 4-epimerase activity
GO:0003978 UDP-glucose 4-epimerase activity
GO:0016853 isomerase activity
GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006012 galactose metabolic process
GO:0019388 galactose catabolic process

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC001273 - Homo sapiens UDP-galactose-4-epimerase, mRNA (cDNA clone MGC:5083 IMAGE:3459004), complete cds.
GQ900906 - Homo sapiens clone HEL-T-18 epididymis secretory sperm binding protein mRNA, complete cds.
BC050685 - Homo sapiens UDP-galactose-4-epimerase, mRNA (cDNA clone MGC:60260 IMAGE:6161561), complete cds.
AK057302 - Homo sapiens cDNA FLJ32740 fis, clone TESTI2001339, highly similar to UDP-GLUCOSE 4-EPIMERASE (EC 5.1.3.2).
LP895744 - Sequence 608 from Patent EP3253886.
L41668 - Homo sapiens UDP-galactose-4-epimerase (GALE) mRNA, complete cds.
BC056880 - Homo sapiens cDNA clone IMAGE:6147671, containing frame-shift errors.
JD526696 - Sequence 507720 from Patent EP1572962.
JD152602 - Sequence 133626 from Patent EP1572962.
JD470519 - Sequence 451543 from Patent EP1572962.
JD163286 - Sequence 144310 from Patent EP1572962.
JD098652 - Sequence 79676 from Patent EP1572962.
JD258990 - Sequence 240014 from Patent EP1572962.
JD217025 - Sequence 198049 from Patent EP1572962.
JD108665 - Sequence 89689 from Patent EP1572962.
JD338781 - Sequence 319805 from Patent EP1572962.
JD371848 - Sequence 352872 from Patent EP1572962.
JD186863 - Sequence 167887 from Patent EP1572962.
JD126383 - Sequence 107407 from Patent EP1572962.
DQ891753 - Synthetic construct clone IMAGE:100004383; FLH179597.01X; RZPDo839A05132D UDP-galactose-4-epimerase (GALE) gene, encodes complete protein.
DQ894934 - Synthetic construct Homo sapiens clone IMAGE:100009394; FLH179593.01L; RZPDo839A05131D UDP-galactose-4-epimerase (GALE) gene, encodes complete protein.
DQ233668 - Homo sapiens UDP galactose 4'-epimerase (GALE) mRNA, complete cds.
AK314397 - Homo sapiens cDNA, FLJ95174, highly similar to Homo sapiens galactose-4-epimerase, UDP- (GALE), mRNA.
KJ891217 - Synthetic construct Homo sapiens clone ccsbBroadEn_00611 GALE gene, encodes complete protein.
KR709644 - Synthetic construct Homo sapiens clone CCSBHm_00004651 GALE (GALE) mRNA, encodes complete protein.
KR709645 - Synthetic construct Homo sapiens clone CCSBHm_00004654 GALE (GALE) mRNA, encodes complete protein.
KR709646 - Synthetic construct Homo sapiens clone CCSBHm_00004661 GALE (GALE) mRNA, encodes complete protein.
KR709647 - Synthetic construct Homo sapiens clone CCSBHm_00004667 GALE (GALE) mRNA, encodes complete protein.
CU674636 - Synthetic construct Homo sapiens gateway clone IMAGE:100019048 5' read GALE mRNA.
AK307354 - Homo sapiens cDNA, FLJ97302.
AK096127 - Homo sapiens cDNA FLJ38808 fis, clone LIVER2005981, weakly similar to UDP-GLUCOSE 4-EPIMERASE (EC 5.1.3.2).
JD019974 - Sequence 998 from Patent EP1572962.
JD031392 - Sequence 12416 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5512 - UDP-N-acetyl-D-galactosamine biosynthesis I
PWY-5514 - UDP-N-acetyl-D-galactosamine biosynthesis II
PWY66-422 - D-galactose degradation V (Leloir pathway)

BioCarta from NCI Cancer Genome Anatomy Project
h_g1pPathway - Leloir pathway of galactose metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q14376 (Reactome details) participates in the following event(s):

R-HSA-70369 GALE:NAD+ dimer reversibly epimerises UDP-Gal to UDP-Glc
R-HSA-70370 Galactose catabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024RAH5, B3KQ39, ENST00000617979.1, ENST00000617979.2, ENST00000617979.3, ENST00000617979.4, GALE , GALE_HUMAN, NM_001127621, Q14376, Q38G75, Q86W41, Q9BVE3, Q9UJB4, uc327rkt.1, uc327rkt.2
UCSC ID: ENST00000617979.5_7
RefSeq Accession: NM_001008216.2
Protein: Q14376 (aka GALE_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GALE:
gale-def (Epimerase Deficiency Galactosemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.