CleftGeneDB-Search

Gene: GLCE

Basic information

Tag	Content
Uniprot ID	O94923; Q6GUQ2;
Entrez ID	26035
Genbank protein ID	BAA74859.1; AAT48654.1;
Genbank nucleotide ID	NM_001324094.1; NM_015554.2; NM_001324093.1; XM_005254298.3;
Ensembl protein ID
Ensembl nucleotide ID
Gene name	D-glucuronyl C5-epimerase
Gene symbol	GLCE
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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.
Sequence	MRCLAARVNY KTLIIICALF TLVTVLLWNK CSSDKAIQFP RRSSSGFRVD GFEKRAAASE 60 SNNYMNHVAK QQSEEAFPQE QQKAPPVVGG FNSNVGSKVL GLKYEEIDCL INDEHTIKGR 120 REGNEVFLPF TWVEKYFDVY GKVVQYDGYD RFEFSHSYSK VYAQRAPYHP DGVFMSFEGY 180 NVEVRDRVKC ISGVEGVPLS TQWGPQGYFY PIQIAQYGLS HYSKNLTEKP PHIEVYETAE 240 DRDKNKPNDW TVPKGCFMAN VADKSRFTNV KQFIAPETSE GVSLQLGNTK DFIISFDLKF 300 LTNGSVSVVL ETTEKNQLFT IHYVSNAQLI AFKERDIYYG IGPRTSWSTV TRDLVTDLRK 360 GVGLSNTKAV KPTKIMPKKV VRLIAKGKGF LDNITISTTA HMAAFFAASD WLVRNQDEKG 420 GWPIMVTRKL GEGFKSLEPG WYSAMAQGQA ISTLVRAYLL TKDHIFLNSA LRATAPYKFL 480 SEQHGVKAVF MNKHDWYEEY PTTPSSFVLN GFMYSLIGLY DLKETAGEKL GKEARSLYER 540 GMESLKAMLP LYDTGSGTIY DLRHFMLGIA PNLARWDYHT THINQLQLLS TIDESPVFKE 600 FVKRWKSYLK GSRAKHN 617

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6HZZ
6I01
6I02
6HZZ
6I01

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	GLCE	281195	O18756			Bos taurus	Prediction	More>>
1:1 ortholog	GLCE	102172900	A0A452EMT4			Capra hircus	Prediction	More>>
1:1 ortholog	GLCE		F7CXB5			Equus caballus	Prediction	More>>
1:1 ortholog	GLCE	26035	O94923			Homo sapiens	Prediction	More>>
1:1 ortholog	Glce	93683	Q9EPS3	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	GLCE	453542	H2Q9P8			Pan troglodytes	Prediction	More>>
1:1 ortholog	GLCE	100154444	F1SIU0			Sus scrofa	Prediction	More>>
1:1 ortholog	Glce	363073	D3ZIK0			Rattus norvegicus	Prediction	More>>
1:1 ortholog	glceb	100007670	F1QR43			Danio rerio	Prediction	More>>

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0033575	Prostatic Diseases	group	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005509	calcium ion binding	IDA
GO:0016857	racemase and epimerase activity, acting on carbohydrates and derivatives	ISS
GO:0042803	protein homodimerization activity	IDA
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IDA
GO:0047464	heparosan-N-sulfate-glucuronate 5-epimerase activity	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0015012	heparan sulfate proteoglycan biosynthetic process	ISS
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA
GO:0030210	heparin biosynthetic process	ISS
GO:0030210	heparin biosynthetic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IEA
GO:0005794	Golgi apparatus	ISS
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	IEA
R-HSA-1630316	Glycosaminoglycan metabolism	IEA
R-HSA-1638091	Heparan sulfate/heparin (HS-GAG) metabolism	IEA
R-HSA-2022928	HS-GAG biosynthesis	IEA
R-HSA-71387	Metabolism of carbohydrates	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GLCE mRNA	19114083
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of GLCE mRNA	31388691
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of GLCE mRNA	20382639
C496492	abrine	abrine results in decreased expression of GLCE mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of GLCE mRNA	22230336
D020106	Acrylamide	Acrylamide results in increased expression of GLCE mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of GLCE mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of GLCE mRNA	19770486
D000661	Amphetamine	Amphetamine results in decreased expression of GLCE mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of GLCE mRNA	24449571
D001280	Atrazine	Atrazine results in decreased expression of GLCE mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GLCE mRNA	21632981
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GLCE mRNA	19770486; 21715664;
C006780	bisphenol A	bisphenol A results in increased expression of GLCE mRNA	28196854
C006780	bisphenol A	bisphenol A affects the expression of GLCE mRNA	25181051; 30816183;
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GLCE mRNA	20938992
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of GLCE mRNA	17553155; 19320972;
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GLCE mRNA	19549813
C029892	cupric chloride	cupric chloride results in decreased expression of GLCE mRNA	24650576
D003471	Cuprizone	Cuprizone results in increased expression of GLCE mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of GLCE mRNA	20106945; 25562108;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of GLCE mRNA	21266533
D004237	Diuron	Diuron results in increased expression of GLCE mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of GLCE mRNA	29803840
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GLCE mRNA	28196854
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GLCE mRNA	29097150
D005485	Flutamide	Flutamide results in decreased expression of GLCE mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GLCE mRNA	20938992
D005839	Gentamicins	Gentamicins results in increased expression of GLCE mRNA	22061828
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of GLCE mRNA	22904298; 24796395;
D019344	Lactic Acid	Lactic Acid results in decreased expression of GLCE mRNA	30851411
D000077339	Leflunomide	Leflunomide results in decreased expression of GLCE mRNA	28988120
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of GLCE mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of GLCE mRNA	28001369
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of GLCE mRNA	29244179
C025256	nonylphenol	nonylphenol results in decreased expression of GLCE mRNA	22982499
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLCE mRNA	25510870
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of GLCE protein	26879310
C006253	pirinixic acid	pirinixic acid results in decreased expression of GLCE mRNA	17426115
D010936	Plant Extracts	Plant Extracts results in increased expression of GLCE mRNA	23557933
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of GLCE mRNA	22714537
D011441	Propylthiouracil	Propylthiouracil results in increased expression of GLCE mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of GLCE mRNA	21632981
C031389	resorcinol	resorcinol results in increased expression of GLCE mRNA	22623647
D000077210	Sunitinib	Sunitinib results in decreased expression of GLCE mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to GLCE promoter]	19654925
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of GLCE mRNA	28065790
D014212	Tretinoin	Tretinoin results in increased expression of GLCE mRNA	21934132
C012589	trichostatin A	trichostatin A results in increased expression of GLCE mRNA	24935251
D000077288	Troglitazone	Troglitazone results in decreased expression of GLCE mRNA	28973697
D014520	Urethane	Urethane results in increased expression of GLCE mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of GLCE mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GLCE mRNA	24935251; 29154799;
D000077337	Vorinostat	Vorinostat results in increased expression of GLCE mRNA	22083351
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of GLCE mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0106	Calcium
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0413	Isomerase
KW-0472	Membrane
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0735	Signal-anchor
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR010598	C5-epim_C
IPR039721	C5-epimerase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF06662	C5-epim_C

Gene: GLCE

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction