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    GALE UDP-galactose-4-epimerase [ Homo sapiens (human) ]

    Gene ID: 2582, updated on 12-Apr-2024

    Summary

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    Official Symbol
    GALEprovided by HGNC
    Official Full Name
    UDP-galactose-4-epimeraseprovided by HGNC
    Primary source
    HGNC:HGNC:4116
    See related
    Ensembl:ENSG00000117308 MIM:606953; AllianceGenome:HGNC:4116
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THC13; SDR1E1
    Summary
    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 cognitive disability, 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]
    Expression
    Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23795599..23800754, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23630574..23635729, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24122089..24127244, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 422 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:24105838-24107037 Neighboring gene PITH domain containing 1 Neighboring gene uncharacterized LOC105376860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 423 Neighboring gene lysophospholipase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 426 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA lyase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 377 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:24137325-24137530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:24151920-24152788 Neighboring gene uncharacterized LOC105376861

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Marín-Quílez A, et al. Platelets, 2023 Dec. PMID 36846897
    2. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. Marín-Quílez A, et al. Blood, 2023 Jan 26. PMID 36395340, Free PMC Article
    3. Expansion of the clinical phenotype of GALE deficiency. Markovitz R, et al. Am J Med Genet A, 2021 Oct. PMID 34159722
    4. Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer. de Souza MFD, et al. Dis Markers, 2019. PMID 31827638, Free PMC Article
    5. Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function. Broussard A, et al. J Biol Chem, 2020 Jan 31. PMID 31819007, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
      Title: GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
    2. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
      Title: Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
    3. Expansion of the clinical phenotype of GALE deficiency.
      Title: Expansion of the clinical phenotype of GALE deficiency.
    4. Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function.
      Title: Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function.
    5. High GALE expression is associated with differentiation Grade of Gastric Cancer.
      Title: Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer.
    6. we have identified GALE p.R51W, a homozygous mutation in an extended kindred including multiple individuals presenting with severe thrombocytopenia and intracranial bleeding. GALE p.R51W has reduced enzymatic activity and is thermally unstable.
      Title: Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
    7. Mutation in UDP-galactose-4'-epimerase gene is associated with UDP-galactose-4'-epimerase deficiency.
      Title: A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
    8. Data show the protein structure of GALE and its substrate binding and specificity. It is mutated in type III galactosemia. [review]
      Title: UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity.
    9. human UDP-galactose 4'-epimerase stability is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding
      Title: The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
    10. These data indicated a critical role of GALE in maintaining cartilage homeostasis, and suggested that GALE inhibition might contribute to OA progress.
      Title: The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    UDPglucose-4-epimerase deficiency
    MedGen: C0751161 OMIM: 230350 GeneReviews: Epimerase Deficiency Galactosemia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: HMGCL

    Homology

    Clone Names

    • FLJ95174, FLJ97302

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine 4-epimerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-glucose 4-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucose 4-epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in galactose catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in galactose catabolic process via UDP-galactose IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucose 4-epimerase
    Names
    UDP galactose-4'-epimerase
    UDP-GalNAc 4-epimerase
    UDP-GlcNAc 4-epimerase
    UDP-N-acetylgalactosamine 4-epimerase
    UDP-N-acetylglucosamine 4-epimerase
    epididymis secretory sperm binding protein
    galactose-4-epimerase, UDP-
    galactowaldenase
    short chain dehydrogenase/reductase family 1E, member 1
    NP_000394.2
    NP_001008217.1
    NP_001121093.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007068.1 RefSeqGene

      Range
      5051..10206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000403.4 → NP_000394.2  UDP-glucose 4-epimerase

      See identical proteins and their annotated locations for NP_000394.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL031295, BC001273, BC056880, BI835132, BQ437612
      Consensus CDS
      CCDS242.1
      UniProtKB/Swiss-Prot
      A0A024RAH5, B3KQ39, Q14376, Q38G75, Q86W41, Q9BVE3, Q9UJB4
      UniProtKB/TrEMBL
      A0A384NL38
      Related
      ENSP00000363621.3, ENST00000374497.7
      Conserved Domains (1) summary
      cd05247
      Location:4 → 338
      UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs

    2. NM_001008216.2 → NP_001008217.1  UDP-glucose 4-epimerase

      See identical proteins and their annotated locations for NP_001008217.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL530475, BC050685
      Consensus CDS
      CCDS242.1
      UniProtKB/Swiss-Prot
      A0A024RAH5, B3KQ39, Q14376, Q38G75, Q86W41, Q9BVE3, Q9UJB4
      UniProtKB/TrEMBL
      A0A384NL38
      Related
      ENSP00000483375.1, ENST00000617979.5
      Conserved Domains (1) summary
      cd05247
      Location:4 → 338
      UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs

    3. NM_001127621.2 → NP_001121093.1  UDP-glucose 4-epimerase

      See identical proteins and their annotated locations for NP_001121093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK314397, BC050685, DA043957
      Consensus CDS
      CCDS242.1
      UniProtKB/Swiss-Prot
      A0A024RAH5, B3KQ39, Q14376, Q38G75, Q86W41, Q9BVE3, Q9UJB4
      UniProtKB/TrEMBL
      A0A384NL38
      Conserved Domains (1) summary
      cd05247
      Location:4 → 338
      UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      23795599..23800754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      23630574..23635729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14376.2 GenPept UniProtKB/Swiss-Prot:Q14376

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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