Gene Gene information from NCBI Gene database.
Entrez ID 26035
Gene name Glucuronic acid epimerase
Gene symbol GLCE
Synonyms (NCBI Gene)
HSEPI
Chromosome 15
Chromosome location 15q23
miRNA miRNA information provided by mirtarbase database.
418
miRTarBase ID miRNA Experiments Reference
MIRT023437 hsa-miR-30b-5p Sequencing 20371350
MIRT024233 hsa-miR-218-5p Sequencing 20371350
MIRT042317 hsa-miR-484 CLASH 23622248
MIRT072734 hsa-miR-519a-3p PAR-CLIP 21572407
MIRT072733 hsa-miR-519b-3p PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CTNNB1 Unknown 22805760
TCF7L2 Unknown 15853773;22805760
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005509 Function Calcium ion binding IDA 30872481
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612134 17855 ENSG00000138604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94923
Protein name D-glucuronyl C5-epimerase (EC 5.1.3.17) (Heparan sulfate C5-epimerase) (Hsepi) (Heparin/heparan sulfate:glucuronic acid C5-epimerase) (Heparosan-N-sulfate-glucuronate 5-epimerase)
Protein 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 interac
PDB 6HZZ , 6I01 , 6I02
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06662 C5-epim_C 416 607 D-glucuronyl C5-epimerase C-terminus Family
Sequence
MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRRSSSGFRVDGFEKRAAASE
SNNYMNHVAKQQSEEAFPQEQQKAPPVVGGFNSNVGSKVLGLKYEEIDCLINDEHTIKGR
REGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSKVYAQRAPYHPDGVFMSFEGY
NVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKNLTEKPPHIEVYETAE
DRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKF
LTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKERDIYYGIGPRTSWSTVTRDLVTDLRK
GVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKG
GWPIMVTRKLGEGFKSLEPGWYSAMAQGQAISTLVRAYLLTKDHIFLNSALRATAPYKFL
SEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKETAGEKLGKEARSLYER
GMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPVFKE
FVKRWKS
YLKGSRAKHN
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CEREBROVASCULAR DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 31834878
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 24403231
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21654676, 22805760, 22968430, 28734894
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22805760 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 21654676
★☆☆☆☆
Found in Text Mining only
Frontotemporal dementia Frontotemporal dementia BEFREE 31834878
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 29104277 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 24264315 Associate
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 24403231 Inhibit
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 27699767
★★☆☆☆
Found in Text Mining + Unknown/Other Associations