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

Gene ID: 2582, updated on 10-Dec-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
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Genomic context

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See GALE in Genome Data Viewer
Location:
1p36.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23795599..23800754, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23630574..23635729, complement)
RS_2024_09 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. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. Thoden JB, et al. J Biol Chem, 2001 Jun 8. PMID 11279193
  2. UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity. Beerens K, et al. Carbohydr Res, 2015 Sep 23. PMID 26162744
  3. The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes. Wen Y, et al. Biochem Biophys Res Commun, 2014 Oct 3. PMID 25201731
  4. 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. Pey AL, et al. Arch Biochem Biophys, 2014 Nov 15. PMID 25150110
  5. In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia. McCorvie TJ, et al. Gene, 2013 Jul 25. PMID 23644136

See all (67) 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
Thrombocytopenia 13, syndromic
MedGen: C5935599 OMIM: 620776 GeneReviews: Not available
not available
UDPglucose-4-epimerase deficiency
MedGen: C0751161 OMIM: 230350 GeneReviews: Epimerase Deficiency Galactosemia
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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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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_2024_08

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

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