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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GALE Gene

protein-coding   GIFtS: 67
GCID: GC01M024122

UDP-Galactose-4-Epimerase

(Previous names: galactose-4-epimerase, UDP-)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UDP-galactose-4-epimerase1 2     SDR1E12
Galactose-4-Epimerase, UDP-1 2     galactowaldenase2
UDP-Glucose 4-Epimerase1 2     Short Chain Dehydrogenase/Reductase Family 1E, Member 12
UDP-Galactose 4-Epimerase2 3     UDP Galactose-4'-Epimerase2
EC 5.1.3.23 8     Galactowaldenase3
Member 11     EC 5.1.38
Short Chain Dehydrogenase/Reductase Family 1E1     

External Ids:    HGNC: 41161   Entrez Gene: 25822   Ensembl: ENSG000001173087   OMIM: 6069535   UniProtKB: Q143763   

Export aliases for GALE gene to outside databases

Previous GC identifers: GC01M023679 GC01M023194 GC01M023591 GC01M023867 GC01M023994 GC01M022374


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Galactose catabolism and Galactose metabolism. GO annotations related to this gene include coenzyme binding and protein homodimerization activity. An important paralog of this gene is UXS1.

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GALE gene promoter:
         AML1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALE promoter sequence
   Search SABiosciences Chromatin IP Primers for GALE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36-p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36-p35

GALE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALE gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M024122:  view genomic region     (about GC identifiers)

Start:
24,122,089 bp from pter      End:
24,127,294 bp from pter
Size:
5,206 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376 (See protein sequence)
Recommended Name: UDP-glucose 4-epimerase  
Size: 348 amino acids; 38282 Da
Cofactor: NAD
Subunit: Homodimer
6/7 PDB 3D structures from and Proteopedia for GALE (see all 7):
1EK5 (3D)        1EK6 (3D)        1HZJ (3D)        1I3K (3D)        1I3L (3D)        1I3M (3D)    
Secondary accessions: Q86W41 Q9BVE3 Q9UJB4

Explore the universe of human proteins at neXtProt for GALE: NX_Q14376

Explore proteomics data for GALE at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14376

  • 4/13 DME Specific Peptides for GALE (Q14376) (see all 13)
     DGTGVRD  LLRYFNP  TVLELLE  KPLDYYR 

    GALE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GALE Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000394.2  NP_001008217.1  NP_001121093.1  

    ENSEMBL proteins: 
     ENSP00000363621   ENSP00000397045   ENSP00000398585   ENSP00000414719   ENSP00000393359  
     ENSP00000398257  
    Reactome Protein details: Q14376
    Human Recombinant Protein Products for GALE: 
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    Cloud-Clone Corp. Proteins for GALE 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    GALE for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    5 InterPro protein domains:
     IPR025308 Epimerase_C
     IPR001509 Epimerase_deHydtase
     IPR005886 GalE
     IPR008089 Nuc_sugar_epim
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q14376

    ProtoNet protein and cluster: Q14376

    2 Blocks protein domains:
    IPB001509 NAD-dependent epimerase/dehydratase
    IPB008089 Nucleotide sugar epimerase signature


    UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376
    Similarity: Belongs to the sugar epimerase family


    GALE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALE_HUMAN, Q14376
    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
    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;

         Genatlas biochemistry entry for GALE:
    UDP-galactose-4-epimerase,38kDa

         Enzyme Numbers (IUBMB): EC 5.1.3.21 2 EC 5.1.32

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ----
    GO:0003978UDP-glucose 4-epimerase activity IDA16302980
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016491oxidoreductase activity ----
         
    GALE for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidGALE 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GALE About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1galactose degradation I (Leloir pathway)
    galactose degradation I (Leloir pathway)0.50
    Galactose catabolism0.50
    2Galactose metabolism
    Galactose metabolism0.46
    Galactose metabolism0.46
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    5GDP-mannose biosynthesis
    colanic acid building blocks biosynthesis0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GALE
        Galactose metabolism


    1 GeneGo (Thomson Reuters) Pathway for GALE
        Galactose metabolism

    4 BioSystems Pathways for GALE
        UDP-N-acetyl-D-galactosamine biosynthesis II
    UDP-N-acetyl-D-galactosamine biosynthesis I
    galactose degradation I (Leloir pathway)
    colanic acid building blocks biosynthesis


    3        Reactome Pathways for GALE
        Metabolism of carbohydrates
    Galactose catabolism
    Metabolism


    3         Kegg Pathways  (Kegg details for GALE):
        Galactose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376
    Pathway: Carbohydrate metabolism; galactose metabolism


    GALE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALE

    1 Interacting protein for GALE (Q143763) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TDO2P487753I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006012galactose metabolic process ----
    GO:0006694steroid biosynthetic process ----
    GO:0008152metabolic process ----
    GO:0009058biosynthetic process ----

    GALE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GALE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GALE

    6 HMDB Compounds for GALE    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--
    dTDP-D-galactosedTDP-D-galactose (see all 3)5817-97-0--
    dTDP-D-glucoseMono-a-D-glucopyranosyl ester (see all 13)2196-62-5--

    7 DrugBank Compounds for GALE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glucose-Uridine-C1,5'-Diphosphate-- --target--17139284 17016423 10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    Tetramethylammonium Ion-- --target--17139284 17016423
    Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester-- --target--17139284 17016423
    Uridine-Diphosphate-N-Acetylgalactosamine-- --target--17139284 17016423
    Uridine-Diphosphate-N-Acetylglucosamine-- --target--17139284 17016423
    Uridine Diphosphate GalactoseGALACTOSE-URIDINE-5'-DIPHOSPHATE (see all 18)2956-16-3target--11279193

    10/13 Novoseek inferred chemical compound relationships for GALE gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udpglucose 93.5 89 12534808 (4), 17553760 (3), 9326324 (2), 12867457 (2) (see all 39)
    udp-n-acetylgalactosamine 91.1 5 15701638 (1), 17720833 (1), 17098903 (1), 15175331 (1)
    galactose-1-phosphate 86.4 20 11117433 (2), 18428423 (2), 7873670 (2), 14970742 (1) (see all 11)
    galactose 79.8 49 15701638 (5), 11117433 (2), 17253981 (2), 16385452 (2) (see all 24)
    udp-n-acetylglucosamine 71 2 15701638 (1), 15175331 (1)
    uridine diphosphate 56.7 2 12534808 (1), 10892349 (1)
    nad+ 51.2 5 11551228 (2), 11313358 (1), 8241177 (1), 16496696 (1)
    nadh 44.8 2 12832414 (1), 15026177 (1)
    hydride 31.8 1 8241177 (1)
    mannitol 31.4 2 18428423 (1), 9700591 (1)

    Search CenterWatch for drugs/clinical trials and news about GALE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for GALE gene (3 alternative transcripts): 
    NM_000403.3  NM_001008216.1  NM_001127621.1  

    Unigene Cluster for GALE:

    UDP-galactose-4-epimerase
    Hs.632380  [show with all ESTs]
    Unigene Representative Sequence: NM_000403
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481736(uc001bhz.1) ENST00000374497(uc009vqo.1 uc001bhv.1 uc001bhx.1)
    ENST00000456977 ENST00000459934 ENST00000469556 ENST00000429356 ENST00000418277
    ENST00000470949 ENST00000425913 ENST00000445705 ENST00000467493(uc009vqq.1)
    ENST00000486382 ENST00000470383 ENST00000466250 ENST00000467070
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK314397.1 BC001273.1 BC050685.2 BC056880.1 DQ233668.1 L41668.1 

    22 DOTS entries:

    DT.97847162  DT.100813329  DT.121382119  DT.455677  DT.92440563  DT.100813334  DT.100813338  DT.100813327 
    DT.100813335  DT.95153120  DT.100028470  DT.95329065  DT.100813336  DT.100813337  DT.95329063  DT.100813326 
    DT.121382130  DT.121382222  DT.95153122  DT.100813339  DT.102836786  DT.91720773 

    24/715 AceView cDNA sequences (see all 715):

    BE897938 CR592209 BU553183 BG751626 CA306929 BI752204 BI914327 CB305984 
    BM920151 BP368916 CR607081 BM671140 BE893713 BG750674 CR592671 BQ009700 
    BE867351 BM846841 BP347853 AI719061 BG741784 AA768030 CB163584 BF062353 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for GALE (see all 21)    About this scheme

    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:                                -     -     -     -     -                                   -     -     -     -                                             

    ExUns: 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c · 15d
    SP1:              -           -                                       
    SP2:              -                                                   
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for GALE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GALE expression in normal human tissues (normalized intensities)      GALE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCAAGGG
    GALE Expression
    About this image


    GALE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             skeleton/cranium/viscerocranium   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Somite (Muscoskeletal System)
             skeleton/axial skeleton   

    See GALE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GALE

    SOURCE GeneReport for Unigene cluster: Hs.632380
        SABiosciences Custom PCR Arrays for GALE
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GALE gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gale1 , 5 galactose-4-epimerase, UDP1, 5 89.11(n)1
    93.93(a)1
      4 (68.29 cM)5
    742461  NM_178389.31  NP_848476.11 
     1359637275 
    chicken
    (Gallus gallus)
    Aves GALE1 UDP-galactose-4-epimerase 73.93(n)
    76.16(a)
      419686  XM_417833.3  XP_417833.3 
    lizard
    (Anolis carolinensis)
    Reptilia GALE6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343498.1(108728-112169)
    African clawed frog
    (Xenopus laevis)
    Amphibia 1n569-prov2 UDP-glucose (37.7 kD) (1N569) 76.46(n)    BC051601.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb05f012 Danio rerio, clone IMAGE5604458, mRNA 77.7(n)    BC050157.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120303
    Gale1
    galactose metabolism UDP-glucose
    4-epimerase3
    UDP-galactose 4'-epimerase1
    60(a)3
    63.95(n)1
    60.64(a)1
      61C83
    380761  NM_138200.31  NP_612044.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C47B2.63
    gale-11
    NAD dependant epimerase/dehydratase
    family3
    Protein GALE-11
    57(a)3
    55.29(n)1
    57.94(a)1
      I(12983221-12985126)3
    1731711  NM_001025880.11  NP_001021051.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAL10(YBR019C)4 UDP-glucose-4-epimerase, catalyzes the interconversion more   --   2(278352-276253) 852307  NP_009575.1 
    soybean
    (Glycine max)
    eudicotyledons BM891809.12   -- 70.81(n)    BM891809.1 
    rice
    (Oryza sativa)
    Liliopsida AB087745.12   -- 73.92(n)    AB087745.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GALE gene
    UXS12  TGDS2  

    GALE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/264 SNPs in GALE are shown (see all 264)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0100584
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0100582 V M mis40--------
    VAR_0377354
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377352 D E mis40--------
    VAR_0377384
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377382 R W mis40--------
    VAR_0377364
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377362 E K mis40--------
    VAR_0377404
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377402 R H mis40--------
    VAR_0377374
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377372 R W mis40--------
    VAR_0377394
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377392 G D mis40--------
    VAR_0025434
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0025432 L P mis40--------
    VAR_0377334
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0377332 A V mis40--------
    VAR_0025394
    Epimerase-deficiency galactosemia (EDG)4--see VAR_0025392 N S mis40--------

    HapMap Linkage Disequilibrium report for GALE (24122089 - 24127294 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GALE: --

    Human Gene Mutation Database (HGMD): GALE
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606953   
    OMIM disorders: 230350  
    UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 15 diseases for GALE:    About MalaCards
    epimerase deficiency galactosemia    erythrocyte galactose epimerase deficiency    generalized galactose epimerase deficiency    kidney sarcoma
    galactosemia    typhoid fever    guillain-barre syndrome    cataract
    gastroenteritis    papillary thyroid carcinoma    influenza    mental retardation
    pneumonia    thyroiditis    sarcoma

    2 diseases from the University of Copenhagen DISEASES database for GALE:
    Galactosemia     Typhoid fever

    GALE for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for GALE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gale deficiency 98.5 24 16301867 (4), 15639193 (3), 14970742 (2), 16611573 (1) (see all 11)
    galactosemias 92.1 28 16301867 (4), 9538513 (4), 19250319 (2), 9326324 (1) (see all 15)
    cataract 0 2 8295413 (1), 11258124 (1)

    Genatlas disease: GALE
    galactosemia,type III

    Genetic Association Database (GAD): GALE

    Export disorders for GALE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GALE gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with GALE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. (PubMed id 8593531)1, 2, 3, 9 Daude N.... Reichardt J.K.V. (1995)
    2. Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. (PubMed id 9973283)1, 2, 4, 9 Wohlers T.M.... Fridovich-Keil J.L. (1999)
    3. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. (PubMed id 11279193)1, 2, 7, 9 Thoden J.B.... Holden H.M. (2001)
    4. The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. (PubMed id 16301867)1, 2, 9 Park H.-D.... Song J. (2005)
    5. Functional analysis of disease-causing mutations in human UDP- galactose 4-epimerase. (PubMed id 16302980)1, 2, 9 Timson D.J. (2005)
    6. Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia. (PubMed id 9538513)1, 2, 9 Maceratesi P.... Reichardt J.K.V. (1998)
    7. Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. (PubMed id 9326324)1, 2, 9 Quimby B.B....Fridovich-Keil J.L. (1997)
    8. Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. (PubMed id 15639193)1, 2, 9 Wasilenko J....Fridovich-Keil J.L. (2005)
    9. Determinants of function and substrate specificity in human UDP- galactose 4'-epimerase. (PubMed id 15175331)1, 2, 9 Schulz J.M.... Fridovich-Keil J.L. (2004)
    10. Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase. (PubMed id 10801319)1, 2, 9 Thoden J.B.... Holden H.M. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2582 HGNC: 4116 AceView: HMGCLandGALE Ensembl:ENSG00000117308 euGenes: HUgn2582
    ECgene: GALE Kegg: 2582 H-InvDB: GALE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GALE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GALE Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALE

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GALE gene:
    Search GeneIP for patents involving GALE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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