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Protein

D-glucuronyl C5-epimerase

Gene

GLCE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

Epimerization of D-glucuronate in heparosan-N-sulfate to L-iduronate.2 Publications

Pathwayi: heparan sulfate biosynthesis

This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

Pathwayi: heparin biosynthesis

This protein is involved in the pathway heparin biosynthesis, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway heparin biosynthesis and in Glycan metabolism.

GO - Molecular functioni

  • heparosan-N-sulfate-glucuronate 5-epimerase activity Source: UniProtKB
  • racemase and epimerase activity, acting on carbohydrates and derivatives Source: UniProtKB
  • UDP-glucuronate 5'-epimerase activity Source: HGNC

GO - Biological processi

Keywordsi

Molecular functionIsomerase

Enzyme and pathway databases

BRENDAi5.1.3.17. 2681.
ReactomeiR-HSA-2022928. HS-GAG biosynthesis.
UniPathwayiUPA00756.
UPA00862.

Names & Taxonomyi

Protein namesi
Recommended name:
D-glucuronyl C5-epimerase (EC:5.1.3.172 Publications)
Alternative name(s):
Heparan sulfate C5-epimerase
Short name:
Hsepi
Heparin/heparan sulfate:glucuronic acid C5-epimerase
Heparosan-N-sulfate-glucuronate 5-epimerase
Gene namesi
Name:GLCE
Synonyms:KIAA0836Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000138604.9.
HGNCiHGNC:17855. GLCE.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 11CytoplasmicSequence analysisAdd BLAST11
Transmembranei12 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
Topological domaini29 – 617LumenalSequence analysisAdd BLAST589

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi146Y → A: Reduces enzyme activity by about 60%. 1 Publication1
Mutagenesisi162Y → A: Reduces enzyme activity by about 75%. 1 Publication1
Mutagenesisi168Y → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi210Y → A: Reduces enzyme activity by about 30%. 1 Publication1
Mutagenesisi222Y → A: Almost abolishes enzyme activity. 1 Publication1

Organism-specific databases

DisGeNETi26035.
OpenTargetsiENSG00000138604.
PharmGKBiPA145148750.

Polymorphism and mutation databases

BioMutaiGLCE.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001926451 – 617D-glucuronyl C5-epimeraseAdd BLAST617

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi225N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO94923.
MaxQBiO94923.
PaxDbiO94923.
PeptideAtlasiO94923.
PRIDEiO94923.

PTM databases

iPTMnetiO94923.
PhosphoSitePlusiO94923.
SwissPalmiO94923.

Expressioni

Gene expression databases

BgeeiENSG00000138604.
CleanExiHS_GLCE.
ExpressionAtlasiO94923. baseline and differential.
GenevisibleiO94923. HS.

Organism-specific databases

HPAiHPA040481.
HPA048216.

Interactioni

Subunit structurei

Interacts with HS2ST1.By similarity

Protein-protein interaction databases

BioGridi117501. 15 interactors.
IntActiO94923. 10 interactors.
STRINGi9606.ENSP00000261858.

Structurei

3D structure databases

ProteinModelPortaliO94923.
SMRiO94923.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the D-glucuronyl C5-epimerase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3760. Eukaryota.
ENOG410XQJ3. LUCA.
GeneTreeiENSGT00390000006043.
HOGENOMiHOG000230542.
HOVERGENiHBG031576.
InParanoidiO94923.
KOiK01793.
OMAiRGVFMYF.
OrthoDBiEOG091G03C0.
PhylomeDBiO94923.
TreeFamiTF105869.

Family and domain databases

InterProiView protein in InterPro
IPR010598. C5-epim.
PfamiView protein in Pfam
PF06662. C5-epim_C. 1 hit.

Sequencei

Sequence statusi: Complete.

O94923-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRCLAARVNY KTLIIICALF TLVTVLLWNK CSSDKAIQFP RRSSSGFRVD
60 70 80 90 100
GFEKRAAASE SNNYMNHVAK QQSEEAFPQE QQKAPPVVGG FNSNVGSKVL
110 120 130 140 150
GLKYEEIDCL INDEHTIKGR REGNEVFLPF TWVEKYFDVY GKVVQYDGYD
160 170 180 190 200
RFEFSHSYSK VYAQRAPYHP DGVFMSFEGY NVEVRDRVKC ISGVEGVPLS
210 220 230 240 250
TQWGPQGYFY PIQIAQYGLS HYSKNLTEKP PHIEVYETAE DRDKNKPNDW
260 270 280 290 300
TVPKGCFMAN VADKSRFTNV KQFIAPETSE GVSLQLGNTK DFIISFDLKF
310 320 330 340 350
LTNGSVSVVL ETTEKNQLFT IHYVSNAQLI AFKERDIYYG IGPRTSWSTV
360 370 380 390 400
TRDLVTDLRK GVGLSNTKAV KPTKIMPKKV VRLIAKGKGF LDNITISTTA
410 420 430 440 450
HMAAFFAASD WLVRNQDEKG GWPIMVTRKL GEGFKSLEPG WYSAMAQGQA
460 470 480 490 500
ISTLVRAYLL TKDHIFLNSA LRATAPYKFL SEQHGVKAVF MNKHDWYEEY
510 520 530 540 550
PTTPSSFVLN GFMYSLIGLY DLKETAGEKL GKEARSLYER GMESLKAMLP
560 570 580 590 600
LYDTGSGTIY DLRHFMLGIA PNLARWDYHT THINQLQLLS TIDESPVFKE
610
FVKRWKSYLK GSRAKHN
Length:617
Mass (Da):70,101
Last modified:June 16, 2009 - v3
Checksum:i2F909A15FEA6DA05
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05583765M → V. Corresponds to variant dbSNP:rs12440300Ensembl.1
Natural variantiVAR_057958597V → I1 PublicationCorresponds to variant dbSNP:rs3865014Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY635582 mRNA. Translation: AAT48654.1.
AC026992 mRNA. No translation available.
AB020643 mRNA. Translation: BAA74859.1.
CCDSiCCDS32277.1.
RefSeqiNP_001311022.1. NM_001324093.1.
NP_001311023.1. NM_001324094.1.
NP_056369.1. NM_015554.2.
XP_005254355.1. XM_005254298.3.
UniGeneiHs.183006.

Genome annotation databases

EnsembliENST00000261858; ENSP00000261858; ENSG00000138604.
GeneIDi26035.
KEGGihsa:26035.
UCSCiuc002ary.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLCE_HUMAN
AccessioniPrimary (citable) accession number: O94923
Secondary accession number(s): Q6GUQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: June 16, 2009
Last modified: September 27, 2017
This is version 134 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families