Aliases for GLCE Gene

Aliases for GLCE Gene

  • Glucuronic Acid Epimerase 2 3 5
  • D-Glucuronyl C5-Epimerase 2 3 4
  • Heparosan-N-Sulfate-Glucuronate 5-Epimerase 3 4
  • UDP-Glucuronic Acid Epimerase 2 3
  • Heparan Sulfate C5-Epimerase 3 4
  • Heparan Sulfate Epimerase 2 3
  • KIAA0836 2 4
  • HSEPI 2 3
  • Heparin/Heparan Sulfate-Glucuronic Acid C5-Epimerase 3
  • Heparin/Heparan Sulfate:Glucuronic Acid C5-Epimerase 4
  • Glucuronyl C5-Epimerase 3
  • EC 5.1.3.17 4
  • EC 5.1.3 51
  • Hsepi 4
  • GLCE 5

External Ids for GLCE Gene

Previous GeneCards Identifiers for GLCE Gene

  • GC15P065389
  • GC15P062646
  • GC15P067127
  • GC15P067168
  • GC15P067240
  • GC15P069452
  • GC15P046285
  • GC15P069162
  • GC15P069506
  • GC15P069614
  • GC15P069671
  • GC15P071840
  • GC15P069306
  • GC15P069308
  • GC15P069412

Summaries for GLCE Gene

GeneCards Summary for GLCE Gene

GLCE (Glucuronic Acid Epimerase) is a Protein Coding gene. Diseases associated with GLCE include Spherocytosis, Type 2 and Hereditary Spherocytosis. Among its related pathways are Metabolism and heparan sulfate biosynthesis. Gene Ontology (GO) annotations related to this gene include racemase and epimerase activity, acting on carbohydrates and derivatives and UDP-glucuronate 5'-epimerase activity.

UniProtKB/Swiss-Prot Summary for GLCE Gene

  • Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins.

Gene Wiki entry for GLCE Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLCE Gene

Genomics for GLCE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GLCE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J069159 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 602.4 +0.5 508 3.1 BRCA1 RNF2 SP1 CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 RFX1 GLCE LOC100421574 PAQR5
GH15J069690 Enhancer 0.5 Ensembl 4.4 +531.6 531646 3.6 FOXA1 CEBPB NFE2 POLR2A SPI1 SMARCA4 GATA2 EZH2 GLCE lnc-TLE3-13 piR-59297-222 DRAIC LINC00593 PCAT29 RPLP1 TLE3
GH15J069164 Enhancer 1 Ensembl ENCODE 0.7 +4.8 4846 1.2 PRDM10 ZNF629 ZNF512 JUND PRDM1 PKNOX1 PATZ1 HDAC1 ZNF600 SOX6 PAQR5 GLCE LOC100421574 piR-57133-189
GH15J069125 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 -30.4 -30354 10.4 GATAD2A PRDM10 ZNF629 REST TFE3 SOX13 NFKBIZ KDM1A RCOR2 ZNF7 TLE3 PAQR5 HSALNG0106839 HSALNG0106838 HSALNG0106840 GLCE NOX5
GH15J069142 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 -16.7 -16650 2.1 CEBPG CREB1 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 ZSCAN4 PATZ1 ZNF501 TLE3 PAQR5 HSALNG0106840 GLCE NOX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLCE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLCE

Top Transcription factor binding sites by QIAGEN in the GLCE gene promoter:
  • Egr-4
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for GLCE Gene

Genomic Locations for GLCE Gene
chr15:69,160,555-69,272,217
(GRCh38/hg38)
Size:
111,663 bases
Orientation:
Plus strand
chr15:69,452,923-69,564,556
(GRCh37/hg19)
Size:
111,634 bases
Orientation:
Plus strand

Genomic View for GLCE Gene

Genes around GLCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLCE Gene

Proteins for GLCE Gene

  • Protein details for GLCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94923-GLCE_HUMAN
    Recommended name:
    D-glucuronyl C5-epimerase
    Protein Accession:
    O94923
    Secondary Accessions:
    • Q6GUQ2

    Protein attributes for GLCE Gene

    Size:
    617 amino acids
    Molecular mass:
    70101 Da
    Quaternary structure:
    • Homodimer (PubMed:30872481). Interacts with HS2ST1.

    Three dimensional structures from OCA and Proteopedia for GLCE Gene

neXtProt entry for GLCE Gene

Selected DME Specific Peptides for GLCE Gene

O94923:
  • SFVLNGF
  • WYEEYPTTP
  • LPLYDTGSGTIYDLRH
  • WSTVTRDL
  • APNLARWDYH
  • YSLIGLYDL

Post-translational modifications for GLCE Gene

  • Glycosylation at Ser44, Ser59, Asn225, Asn303, and Asn393
  • Ubiquitination at Lys98
  • Modification sites at PhosphoSitePlus

Domains & Families for GLCE Gene

Gene Families for GLCE Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GLCE Gene

InterPro:
Blocks:
  • D-glucuronyl C5-epimerase, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GLCE Gene

GenScript: Design optimal peptide antigens:
  • Heparin/heparan sulfate:glucuronic acid C5-epimerase (GLCE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94923

UniProtKB/Swiss-Prot:

GLCE_HUMAN :
  • Belongs to the D-glucuronyl C5-epimerase family.
Family:
  • Belongs to the D-glucuronyl C5-epimerase family.
genes like me logo Genes that share domains with GLCE: view

Function for GLCE Gene

Molecular function for GLCE Gene

UniProtKB/Swiss-Prot Function:
Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[heparosan-N-sulfate](n) = [heparan-N-sulfate](n); Xref=Rhea:RHEA:20197, Rhea:RHEA-COMP:9556, Rhea:RHEA-COMP:9557, ChEBI:CHEBI:58041, ChEBI:CHEBI:58287; EC=5.1.3.17; Evidence={ECO:0000269|PubMed:20118238, ECO:0000269|PubMed:22528493, ECO:0000269|PubMed:30872481};.

Enzyme Numbers (IUBMB) for GLCE Gene

Phenotypes From GWAS Catalog for GLCE Gene

Gene Ontology (GO) - Molecular Function for GLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 30872481
GO:0016853 isomerase activity IEA --
GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives IEA,ISS --
GO:0042803 protein homodimerization activity IDA 30872481
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GLCE: view
genes like me logo Genes that share phenotypes with GLCE: view

Animal Models for GLCE Gene

MGI Knock Outs for GLCE:
  • Glce Glce<tm1Jpli>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLCE

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GLCE Gene

Localization for GLCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLCE Gene

Golgi apparatus membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLCE gene
Compartment Confidence
golgi apparatus 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IBA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GLCE: view

Pathways & Interactions for GLCE Gene

genes like me logo Genes that share pathways with GLCE: view

UniProtKB/Swiss-Prot O94923-GLCE_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparin biosynthesis.

Gene Ontology (GO) - Biological Process for GLCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015012 heparan sulfate proteoglycan biosynthetic process IBA,ISS --
GO:0030210 heparin biosynthetic process ISS --
genes like me logo Genes that share ontologies with GLCE: view

No data available for SIGNOR curated interactions for GLCE Gene

Drugs & Compounds for GLCE Gene

(3) Drugs for GLCE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for GLCE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Glucurono-6,3-lactone
  • D-Glucurone
  • D-Glucuronic acid
  • D-Glucuronic acid lactone
  • D-glucurono-3,6-Lactone
  • D-Glucuronolactone
32449-92-6
genes like me logo Genes that share compounds with GLCE: view

Transcripts for GLCE Gene

mRNA/cDNA for GLCE Gene

5 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLCE

Alternative Splicing Database (ASD) splice patterns (SP) for GLCE Gene

No ASD Table

Relevant External Links for GLCE Gene

GeneLoc Exon Structure for
GLCE

Expression for GLCE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLCE Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.1) and Brain - Cerebellum (x6.5).

Protein differential expression in normal tissues from HIPED for GLCE Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.7), Pancreatic juice (17.5), and Placenta (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLCE Gene



Protein tissue co-expression partners for GLCE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLCE

SOURCE GeneReport for Unigene cluster for GLCE Gene:

Hs.183006

Evidence on tissue expression from TISSUES for GLCE Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with GLCE: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLCE Gene

Orthologs for GLCE Gene

This gene was present in the common ancestor of animals.

Orthologs for GLCE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GLCE 30 31
  • 99.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GLCE 30 31
  • 93.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GLCE 30 31
  • 93.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Glce 30 17 31
  • 91.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Glce 30
  • 91.46 (n)
Oppossum
(Monodelphis domestica)
Mammalia GLCE 31
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GLCE 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GLCE 30 31
  • 75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GLCE 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia glce 30
  • 70.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32770 30
Zebrafish
(Danio rerio)
Actinopterygii glcea 31
  • 71 (a)
OneToMany
glceb 30 31
  • 69.17 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005699 30
  • 54.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Hsepi 30 31
  • 53.06 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea hse-5 30 31
  • 49.4 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2697 31
  • 47 (a)
OneToOne
Species where no ortholog for GLCE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GLCE Gene

ENSEMBL:
Gene Tree for GLCE (if available)
TreeFam:
Gene Tree for GLCE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLCE: view image

Paralogs for GLCE Gene

No data available for Paralogs for GLCE Gene

Variants for GLCE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLCE Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
784325 Benign: not provided 69,268,521(+) C/G SYNONYMOUS_VARIANT
787120 Benign: not provided 69,256,054(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
rs12440300 - p.Met65Val
rs3865014 - p.Val597Ile

Additional dbSNP identifiers (rs#s) for GLCE Gene

Structural Variations from Database of Genomic Variants (DGV) for GLCE Gene

Variant ID Type Subtype PubMed ID
dgv306e201 CNV deletion 23290073
dgv4584n54 CNV gain 21841781
esv2264721 CNV deletion 18987734
esv23604 CNV gain 19812545
esv2476720 CNV deletion 19546169
esv2741191 CNV deletion 23290073
esv2749821 CNV deletion 23290073
esv2749822 CNV deletion 23290073
esv2749824 CNV deletion 23290073
esv3636821 CNV gain 21293372
esv989223 OTHER inversion 20482838
nsv1039652 CNV loss 25217958
nsv1113722 CNV deletion 24896259
nsv1122979 CNV deletion 24896259
nsv517185 CNV gain+loss 19592680
nsv569811 CNV gain 21841781

Variation tolerance for GLCE Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 41.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLCE Gene

Human Gene Mutation Database (HGMD)
GLCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLCE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLCE Gene

Disorders for GLCE Gene

MalaCards: The human disease database

(2) MalaCards diseases for GLCE Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 2
  • sph2
hereditary spherocytosis
  • spherocytosis, type 1
- elite association - COSMIC cancer census association via MalaCards
Search GLCE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GLCE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GLCE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLCE Gene

Publications for GLCE Gene

  1. The human D-glucuronyl C5-epimerase gene is transcriptionally activated through the beta-catenin-TCF4 pathway. (PMID: 15853773) Ghiselli G … Agrawal A (The Biochemical journal 2005) 2 3 23
  2. Substrate binding mode and catalytic mechanism of human heparan sulfate d-glucuronyl C5 epimerase. (PMID: 30872481) Debarnot C … Bourne Y (Proceedings of the National Academy of Sciences of the United States of America 2019) 3 4
  3. Uncovering biphasic catalytic mode of C5-epimerase in heparan sulfate biosynthesis. (PMID: 22528493) Sheng J … Liu J (The Journal of biological chemistry 2012) 3 4
  4. Using engineered 2-O-sulfotransferase to determine the activity of heparan sulfate C5-epimerase and its mutants. (PMID: 20118238) Li K … Liu J (The Journal of biological chemistry 2010) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for GLCE Gene

  • Signalway Proteins for GLCE

Sources for GLCE Gene