• Gene id: 26035

Gene Summary

• Gene Symbol: GLCE   Gene   UCSC   Ensembl
• Aliases: HSEPI
• Gene name: glucuronic acid epimerase
• Alternate names: D-glucuronyl C5-epimerase, 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,
• Gene location: 15q23 (69160554: 69272208)     Exons: 10     NC_000015.10
• OMIM: 612134

Protein Summary

• Protein general information: O94923  
  • 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)
  • Length: 617  
  • Mass: 70101
• Sequence:

  MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRRSSSGFRVDGFEKRAAASESNNYMNHVAKQQSEE
  AFPQEQQKAPPVVGGFNSNVGSKVLGLKYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYD
  RFEFSHSYSKVYAQRAPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYGLSHYSKN
  LTEKPPHIEVYETAEDRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAPETSEGVSLQLGNTKDFIISFDLKF
  LTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKERDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKI
  MPKKVVRLIAKGKGFLDNITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQA
  ISTLVRAYLLTKDHIFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFVLNGFMYSLIGLYDLKET
  AGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFMLGIAPNLARWDYHTTHINQLQLLSTIDESPVFKE
  FVKRWKSYLKGSRAKHN

• Structural information:
  • Interpro: IPR010598  IPR039721  
  • PDB: 6HZZ 6I01 6I02
  • PDBsum: 6HZZ 6I01 6I02
  • STRING: ENSP00000261858
• Other Databases: GeneCards:  GLCE  Malacards:  GLCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IDA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IBA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IMP	molecular function
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IEA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IEA	molecular function
GO:0016857	racemase and epimerase activity, acting on carbohydrates and derivatives	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030210	heparin biosynthetic process	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0030210	heparin biosynthetic process	IEA	biological process
GO:0016857	racemase and epimerase activity, acting on carbohydrates and derivatives	ISS	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0030210	heparin biosynthetic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)