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O94923

- GLCE_HUMAN

UniProt

O94923 - GLCE_HUMAN

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Protein
D-glucuronyl C5-epimerase
Gene
GLCE, KIAA0836
Organism
Homo sapiens (Human)
Status
Reviewed - 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.By similarity1 Publication

Catalytic activityi

Heparosan-N-sulfate D-glucuronate = heparosan-N-sulfate L-iduronate.2 Publications

Pathwayi

GO - Molecular functioni

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

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glycosaminoglycan biosynthetic process Source: Reactome
  3. glycosaminoglycan metabolic process Source: Reactome
  4. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
  5. heparin biosynthetic process Source: UniProtKB
  6. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Enzyme and pathway databases

ReactomeiREACT_121248. HS-GAG biosynthesis.
UniPathwayiUPA00756.
UPA00862.

Names & Taxonomyi

Protein namesi
Recommended name:
D-glucuronyl C5-epimerase (EC:5.1.3.17)
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:KIAA0836
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:17855. GLCE.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1111Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei12 – 2817Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini29 – 617589Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. Golgi membrane Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi146 – 1461Y → A: Reduces enzyme activity by about 60%. 1 Publication
Mutagenesisi162 – 1621Y → A: Reduces enzyme activity by about 75%. 1 Publication
Mutagenesisi168 – 1681Y → A: Almost abolishes enzyme activity. 1 Publication
Mutagenesisi210 – 2101Y → A: Reduces enzyme activity by about 30%. 1 Publication
Mutagenesisi222 – 2221Y → A: Almost abolishes enzyme activity. 1 Publication

Organism-specific databases

PharmGKBiPA145148750.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 617617D-glucuronyl C5-epimerase
PRO_0000192645Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi225 – 2251N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO94923.
PaxDbiO94923.
PRIDEiO94923.

PTM databases

PhosphoSiteiO94923.

Expressioni

Gene expression databases

ArrayExpressiO94923.
BgeeiO94923.
CleanExiHS_GLCE.
GenevestigatoriO94923.

Organism-specific databases

HPAiHPA040481.
HPA048216.

Interactioni

Subunit structurei

Interacts with HS2ST1 By similarity.

Protein-protein interaction databases

BioGridi117501. 2 interactions.
STRINGi9606.ENSP00000261858.

Structurei

3D structure databases

ProteinModelPortaliO94923.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG86883.
HOGENOMiHOG000230542.
HOVERGENiHBG031576.
InParanoidiO94923.
KOiK01793.
OMAiKPNDWTV.
PhylomeDBiO94923.
TreeFamiTF105869.

Family and domain databases

InterProiIPR010598. C5-epim.
[Graphical view]
PfamiPF06662. C5-epim_C. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O94923-1 [UniParc]FASTAAdd to Basket

« Hide

MRCLAARVNY KTLIIICALF TLVTVLLWNK CSSDKAIQFP RRSSSGFRVD    50
GFEKRAAASE SNNYMNHVAK QQSEEAFPQE QQKAPPVVGG FNSNVGSKVL 100
GLKYEEIDCL INDEHTIKGR REGNEVFLPF TWVEKYFDVY GKVVQYDGYD 150
RFEFSHSYSK VYAQRAPYHP DGVFMSFEGY NVEVRDRVKC ISGVEGVPLS 200
TQWGPQGYFY PIQIAQYGLS HYSKNLTEKP PHIEVYETAE DRDKNKPNDW 250
TVPKGCFMAN VADKSRFTNV KQFIAPETSE GVSLQLGNTK DFIISFDLKF 300
LTNGSVSVVL ETTEKNQLFT IHYVSNAQLI AFKERDIYYG IGPRTSWSTV 350
TRDLVTDLRK GVGLSNTKAV KPTKIMPKKV VRLIAKGKGF LDNITISTTA 400
HMAAFFAASD WLVRNQDEKG GWPIMVTRKL GEGFKSLEPG WYSAMAQGQA 450
ISTLVRAYLL TKDHIFLNSA LRATAPYKFL SEQHGVKAVF MNKHDWYEEY 500
PTTPSSFVLN GFMYSLIGLY DLKETAGEKL GKEARSLYER GMESLKAMLP 550
LYDTGSGTIY DLRHFMLGIA PNLARWDYHT THINQLQLLS TIDESPVFKE 600
FVKRWKSYLK GSRAKHN 617
Length:617
Mass (Da):70,101
Last modified:June 16, 2009 - v3
Checksum:i2F909A15FEA6DA05
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651M → V.
Corresponds to variant rs12440300 [ dbSNP | Ensembl ].
VAR_055837
Natural varianti597 – 5971V → I.1 Publication
Corresponds to variant rs3865014 [ dbSNP | Ensembl ].
VAR_057958

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY635582 mRNA. Translation: AAT48654.1.
AC026992 mRNA. No translation available.
AB020643 mRNA. Translation: BAA74859.1.
CCDSiCCDS32277.1.
RefSeqiNP_056369.1. NM_015554.1.
XP_005254355.1. XM_005254298.1.
UniGeneiHs.183006.

Genome annotation databases

EnsembliENST00000261858; ENSP00000261858; ENSG00000138604.
GeneIDi26035.
KEGGihsa:26035.
UCSCiuc002ary.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY635582 mRNA. Translation: AAT48654.1 .
AC026992 mRNA. No translation available.
AB020643 mRNA. Translation: BAA74859.1 .
CCDSi CCDS32277.1.
RefSeqi NP_056369.1. NM_015554.1.
XP_005254355.1. XM_005254298.1.
UniGenei Hs.183006.

3D structure databases

ProteinModelPortali O94923.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117501. 2 interactions.
STRINGi 9606.ENSP00000261858.

PTM databases

PhosphoSitei O94923.

Proteomic databases

MaxQBi O94923.
PaxDbi O94923.
PRIDEi O94923.

Protocols and materials databases

DNASUi 26035.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261858 ; ENSP00000261858 ; ENSG00000138604 .
GeneIDi 26035.
KEGGi hsa:26035.
UCSCi uc002ary.1. human.

Organism-specific databases

CTDi 26035.
GeneCardsi GC15P069452.
HGNCi HGNC:17855. GLCE.
HPAi HPA040481.
HPA048216.
MIMi 612134. gene.
neXtProti NX_O94923.
PharmGKBi PA145148750.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG86883.
HOGENOMi HOG000230542.
HOVERGENi HBG031576.
InParanoidi O94923.
KOi K01793.
OMAi KPNDWTV.
PhylomeDBi O94923.
TreeFami TF105869.

Enzyme and pathway databases

UniPathwayi UPA00756 .
UPA00862 .
Reactomei REACT_121248. HS-GAG biosynthesis.

Miscellaneous databases

GeneWikii GLCE.
GenomeRNAii 26035.
NextBioi 47849.
PROi O94923.
SOURCEi Search...

Gene expression databases

ArrayExpressi O94923.
Bgeei O94923.
CleanExi HS_GLCE.
Genevestigatori O94923.

Family and domain databases

InterProi IPR010598. C5-epim.
[Graphical view ]
Pfami PF06662. C5-epim_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Homo sapiens D-glucuronyl C5-epimerase (GLCE)."
    Ghiselli G.
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 9-617, VARIANT ILE-597.
    Tissue: Brain.
  4. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-225.
    Tissue: Liver.
  5. "Using engineered 2-O-sulfotransferase to determine the activity of heparan sulfate C5-epimerase and its mutants."
    Li K., Bethea H.N., Liu J.
    J. Biol. Chem. 285:11106-11113(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: CATALYTIC ACTIVITY, FUNCTION, MUTAGENESIS OF TYR-146; TYR-162; TYR-168; TYR-210 AND TYR-222.
  6. "Uncovering a biphasic catalytic mode of C5-epimerase in heparan sulfate biosynthesis."
    Sheng J., Xu Y., Dulaney S.B., Huang X., Liu J.
    J. Biol. Chem. 287:20996-21002(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: CATALYTIC ACTIVITY.

Entry informationi

Entry nameiGLCE_HUMAN
AccessioniPrimary (citable) accession number: O94923
Secondary accession number(s): Q6GUQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: June 16, 2009
Last modified: September 3, 2014
This is version 108 of the entry and version 3 of the sequence. [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

External Data

Dasty 3

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