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    GLCE glucuronic acid epimerase [ Homo sapiens (human) ]

    Gene ID: 26035, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GLCEprovided by HGNC
    Official Full Name
    glucuronic acid epimeraseprovided by HGNC
    Primary source
    HGNC:HGNC:17855
    See related
    Ensembl:ENSG00000138604 MIM:612134; AllianceGenome:HGNC:17855
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSEPI
    Summary
    Enables calcium ion binding activity; heparosan-N-sulfate-glucuronate 5-epimerase activity; and protein homodimerization activity. Involved in heparan sulfate proteoglycan biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Implicated in cerebrovascular disease and hypertension. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 5.9), duodenum (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLCE in Genome Data Viewer
    Location:
    15q23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (69160635..69272207)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (66983187..67094669)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (69452974..69564546)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69378684-69379278 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:69382031-69382532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69385773-69386273 Neighboring gene uncharacterized LOC124903516 Neighboring gene Ewing sarcoma associated transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69408482-69409456 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69409457-69410430 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:69412000-69412925 Neighboring gene Sharpr-MPRA regulatory region 1691 Neighboring gene NANOG hESC enhancer GRCh37_chr15:69431124-69431625 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:69452636-69453136 Neighboring gene family with sequence similarity 47 member C pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6597 Neighboring gene RNA, 7SL, cytoplasmic 438, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:69564446-69565003 Neighboring gene PAQR5 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:69597275-69598474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69610145-69610644 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:69615648-69615826 Neighboring gene small nucleolar RNA SNORA77 Neighboring gene progestin and adipoQ receptor family member 5

    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 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. Decreased expression of human D-glucuronyl C5-epimerase in breast cancer. Grigorieva E, et al. Int J Cancer, 2008 Mar 1. PMID 17985344
    2. D-glucuronyl C5-epimerase suppresses small-cell lung cancer cell proliferation in vitro and tumour growth in vivo. Grigorieva EV, et al. Br J Cancer, 2011 Jun 28. PMID 21654676, Free PMC Article
    3. Uncovering biphasic catalytic mode of C5-epimerase in heparan sulfate biosynthesis. Sheng J, et al. J Biol Chem, 2012 Jun 15. PMID 22528493, Free PMC Article
    4. Expression of chondroitin-glucuronate C5-epimerase and cellular immune responses in patients with hepatocellular carcinoma. Mizukoshi E, et al. Liver Int, 2012 Nov. PMID 22830596
    5. D-glucuronyl C5-epimerase cell type specifically affects angiogenesis pathway in different prostate cancer cells. Rosenberg EE, et al. Tumour Biol, 2014 Apr. PMID 24264315

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase.
      Title: Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase.
    2. Glycolysis- and immune-related novel prognostic biomarkers of Ewing's sarcoma: glucuronic acid epimerase and triosephosphate isomerase 1.
      Title: Glycolysis- and immune-related novel prognostic biomarkers of Ewing's sarcoma: glucuronic acid epimerase and triosephosphate isomerase 1.
    3. Results found the expression of GLCE is significantly decreased in the brains of frontotemporal lobar degeneration cases relative to normal controls, demonstrating the potential disease relevance of the candidate gene identified. Furthermore, knockdown of GLCE in cultured human cells protects against oxidative stress induced pTDP accumulation.
      Title: Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy.
    4. Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase.
      Title: Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase.
    5. Results show that overexpression of Hsepi alone resulted in an unexpected increase in heparan sulfate (HS) chain length. A Hsepi point-mutant (Y168A), devoid of catalytic activity, failed to affect chain length. Moreover, the effect of Hsepi overexpression on HS chain length was abolished by simultaneous overexpression of 2OST.
      Title: Enzyme overexpression - an exercise toward understanding regulation of heparan sulfate biosynthesis.
    6. The obtained data suggest an involvement of GLCE rs3865014 in breast cancer development. Heterozygous AG genotype might be a risk factor for breast cancer susceptibility in Siberian women and is associated with aggressive ER-negative and triple-negative cancer subtypes.
      Title: GLCE rs3865014 (Val597Ile) polymorphism is associated with breast cancer susceptibility and triple-negative breast cancer in Siberian population.
    7. The GLCE gene polymorphism rs3865014 appears to have biological relevance in human pathophysiology.
      Title: Glucuronic Acid Epimerase (GLCE) Variant rs3865014 (A>G) Is Associated with BMI, Blood Hemoglobin, Hypertension, and Cerebrovascular Events, the TAMRISK Study.
    8. C5-epimerase and 2-O-sulfotransferase in association generate extended domains of consecutive GlcNS-IdoA2S Sequence.
      Title: C5-epimerase and 2-O-sulfotransferase associate in vitro to generate contiguous epimerized and 2-O-sulfated heparan sulfate domains.
    9. GLCE may be used as a potential model to study the functional role of intratumor cell heterogeneity in prostate cancer progression.
      Title: Heterogeneity of d-glucuronyl C5-epimerase expression and epigenetic regulation in prostate cancer.
    10. activation of angiogenesis as a main molecular mechanism of pro-oncogenic effect of GLCE in prostate cancer.
      Title: D-glucuronyl C5-epimerase cell type specifically affects angiogenesis pathway in different prostate cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of glucuronic acid epimerase (GLCE) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Homology

    Clone Names

    • KIAA0836

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparosan-N-sulfate-glucuronate 5-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparosan-N-sulfate-glucuronate 5-epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparosan-N-sulfate-glucuronate 5-epimerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables racemase and epimerase activity, acting on carbohydrates and derivatives ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heparin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    D-glucuronyl C5-epimerase
    Names
    UDP-glucuronic acid epimerase
    glucuronyl C5-epimerase
    heparan sulfate C5-epimerase
    heparan sulfate epimerase
    heparin/heparan sulfate-glucuronic acid C5-epimerase
    heparosan-N-sulfate-glucuronate 5-epimerase
    NP_001311020.1
    NP_001311021.1
    NP_001311022.1
    NP_001311023.1
    NP_056369.1
    XP_016877562.1
    XP_016877563.1
    XP_047288332.1
    XP_047288333.1
    XP_047288335.1
    XP_047288336.1
    XP_054233688.1
    XP_054233689.1
    XP_054233690.1
    XP_054233691.1
    XP_054233692.1
    XP_054233693.1

    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.

    mRNA and Protein(s)

    1. NM_001324091.2 → NP_001311020.1  D-glucuronyl C5-epimerase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026512, AC026992

    2. NM_001324092.2 → NP_001311021.1  D-glucuronyl C5-epimerase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC026512, AC026992
      UniProtKB/TrEMBL
      B3KML4

    3. NM_001324093.2 → NP_001311022.1  D-glucuronyl C5-epimerase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026512, AC026992
      Consensus CDS
      CCDS32277.1
      UniProtKB/Swiss-Prot
      O94923, Q6GUQ2
      UniProtKB/TrEMBL
      H0YNP1
      Conserved Domains (1) summary
      pfam06662
      Location:416 → 607
      C5-epim_C; D-glucuronyl C5-epimerase C-terminus

    4. NM_001324094.2 → NP_001311023.1  D-glucuronyl C5-epimerase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC026512, AC026992
      Consensus CDS
      CCDS32277.1
      UniProtKB/Swiss-Prot
      O94923, Q6GUQ2
      UniProtKB/TrEMBL
      H0YNP1
      Conserved Domains (1) summary
      pfam06662
      Location:416 → 607
      C5-epim_C; D-glucuronyl C5-epimerase C-terminus

    5. NM_015554.3 → NP_056369.1  D-glucuronyl C5-epimerase isoform 1

      See identical proteins and their annotated locations for NP_056369.1

      Status: VALIDATED

      Source sequence(s)
      AC026512, AC026992
      Consensus CDS
      CCDS32277.1
      UniProtKB/Swiss-Prot
      O94923, Q6GUQ2
      UniProtKB/TrEMBL
      H0YNP1
      Related
      ENSP00000261858.2, ENST00000261858.7
      Conserved Domains (1) summary
      pfam06662
      Location:416 → 607
      C5-epim_C; D-glucuronyl C5-epimerase C-terminus

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      69160635..69272207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432377.1 → XP_047288333.1  D-glucuronyl C5-epimerase isoform X1

    2. XM_047432376.1 → XP_047288332.1  D-glucuronyl C5-epimerase isoform X1

    3. XM_047432380.1 → XP_047288336.1  D-glucuronyl C5-epimerase isoform X3

    4. XM_047432379.1 → XP_047288335.1  D-glucuronyl C5-epimerase isoform X1

    5. XM_017022073.2 → XP_016877562.1  D-glucuronyl C5-epimerase isoform X2

      UniProtKB/TrEMBL
      H0YNP1

    6. XM_017022074.3 → XP_016877563.1  D-glucuronyl C5-epimerase isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      66983187..67094669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377715.1 → XP_054233690.1  D-glucuronyl C5-epimerase isoform X1

    2. XM_054377714.1 → XP_054233689.1  D-glucuronyl C5-epimerase isoform X1

    3. XM_054377713.1 → XP_054233688.1  D-glucuronyl C5-epimerase isoform X1

    4. XM_054377717.1 → XP_054233692.1  D-glucuronyl C5-epimerase isoform X3

    5. XM_054377716.1 → XP_054233691.1  D-glucuronyl C5-epimerase isoform X2

    6. XM_054377718.1 → XP_054233693.1  D-glucuronyl C5-epimerase isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94923.3 GenPept UniProtKB/Swiss-Prot:O94923

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