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GLCE glucuronic acid epimerase [ Homo sapiens (human) ]

Gene ID: 26035, updated on 3-Apr-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 integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 5.9), duodenum (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
15q23
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (69160635..69272207)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (66983187..67094669)
105.20220307 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
  • 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. Elucidating the unusual reaction kinetics of D-glucuronyl C5-epimerase. Vaidyanathan D, et al. Glycobiology, 2020 Oct 21. PMID 32304324, Free PMC Article
  2. GLCE rs3865014 (Val597Ile) polymorphism is associated with breast cancer susceptibility and triple-negative breast cancer in Siberian population. Belyavskaya VA, et al. Gene, 2017 Sep 10. PMID 28734894
  3. Glucuronic Acid Epimerase (GLCE) Variant rs3865014 (A>G) Is Associated with BMI, Blood Hemoglobin, Hypertension, and Cerebrovascular Events, the TAMRISK Study. Kunnas T, et al. Ann Hum Genet, 2016 Nov. PMID 27699767
  4. Heterogeneity of d-glucuronyl C5-epimerase expression and epigenetic regulation in prostate cancer. Prudnikova TY, et al. Cancer Med, 2013 Oct. PMID 24403231, Free PMC Article
  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 (42) 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_2023_10

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

Gene LinkOut

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