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ECE1 Gene

protein-coding GIFtS: 71

GC01M021417

endothelin converting enzyme 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ECE)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
EC 3.4.24.71 ^³
ECE ^²
ECE-1 ^³
OTTHUMP00000002725 ^²

Descriptions
endothelin converting enzyme 1 ^²

External Ids
HGNC: 3146¹
Entrez Gene: 1889²
UniProtKB: P42892³
Ensembl: ENSG00000117298⁷

Search outside databases for aliases for ECE1 gene

Previous GC identifers: GC01M021116 GC01M020581 GC01M020692 GC01M021015 GC01M021290

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ECE1:

Endothelin-converting enzyme-1 is involved in the proteolytic processing of endothelin-1 (EDN1; MIM

131240), -2 (EDN2; MIM 131241), and -3 (EDN3; MIM 131242) to biologically active

peptides.[supplied by OMIM]

UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892

Function: Converts big endothelin-1 to endothelin-1

Gene Wiki entry for ECE1 (Endothelin_converting_enzyme_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ECE1 gene

Entrez Gene cytogenetic band: 1p36.1 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.1

ECE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M021417: (about GC identifiers)

Start:	21,417,664 bp from pter
End:	21,544,584 bp from pter
Size:	126,921 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_004610.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892 (See protein sequence)

Recommended Name: Endothelin-converting enzyme 1

Size: 770 amino acids; 87164 Da

Cofactor: Binds 1 zinc ion per subunit

Subunit: Homodimer; disulfide-linked

Subcellular location: Cell membrane; Single-pass type II membrane protein

Sequence caution: Sequence=AAX35820.1; Type=Erroneous gene model prediction;

PDB structures from and Proteopedia :

3DWB (3D)

Secondary accessions: A8K3P1 Q14217 Q17RN5 Q58GE7 Q5THM5 Q5THM7 Q5THM8 Q9UJQ6 Q9UPF4 Q9UPM4 Q9Y501

Alternative splicing: 4 isoforms: P42892-1 P42892-2 P42892-3 P42892-4

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_001106818.1 NP_001106819.1 NP_001106820.1 NP_001388.1

ENSEMBL proteins:

ENSP00000364029 ENSP00000349581 ENSP00000264205 ENSP00000364028

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for ECE1 (ECE-1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ECE1)
	Human Recombinant Proteins from Abnova (ECE1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	IEA	--
GO:0005768	endosome	IDA	18039931
GO:0005794	Golgi apparatus	IDA	18029348
GO:0009897	external side of plasma membrane	IDA	9449382 9710124
GO:0016020	membrane	IEA	--

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Antibodies for ECE1:

	Invitrogen Antibodies for ECE1
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ECE1
	R&D Systems Antibodies for ECE1 (ECE-1)
	Antibodies from Abcam (ECE1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ECE1)
	Search Novus for antibodies for ECE1

Assays for ECE1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P42892

ProtoNet protein and cluster: P42892

2 Blocks protein families:

IPB000718 Neprilysin metalloprotease (M13) family signature

IPB008753 Peptidase M13

UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892

Similarity: Belongs to the peptidase M13 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ECE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ECE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001397

Applied Biosystems Silencer® siRNAs for ECE1

Sigma-Aldrich siRNA and siRNA Panels for ECE1

Sigma-Aldrich shRNA for ECE1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001113347
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001113347
untagged cDNA clones in CMV expression vector (see all 7): NM_001113347

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001397

UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892

Function: Converts big endothelin-1 to endothelin-1

Catalytic activity: Hydrolysis of the 21-Trp- -Val-22 bond in big endothelin to form endothelin 1

Enzyme regulation: Inhibited by phosphoramidon

Enzyme Number (IUBMB): EC 3.4.24.71

Genatlas biochemistry entry for ECE1:

endothelin converting enzyme 1,converting the precursor big ET-1 to mature ET-1

(EDN1),metallopeptidase,neutral endopeptidase family,homolog to MME,including four isoforms

ECE1A,ECE1B,ECE1C,ECE1D,diverging in their N terminal sequence and displaying different patterns

of subcellular localization

15/16 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ece1) (see all 16 ):

	craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	lethality-prenatal/perinatal
muscle	nervous system	normal	pigmentation	skeleton

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004222	metalloendopeptidase activity	IEA	--
GO:0008233	peptidase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0017046	peptide hormone binding	IC	7864876
GO:0042803	protein homodimerization activity	IPI	7805846

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for ECE1 (Your Favorite Gene powered by Ingenuity)

Endothelin-1 Signaling
Lysine Degradation
Hepatic Fibrosis / Hepatic Stellate Cell Activation

GeneDecks ECE1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ECE1

5/53 Interacting proteins for ECE1 (ENSP00000364028³) via UniProtKB, MINT, and/or STRING (see all 53 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EDN1	ENSP00000368683³	STRING (score=.995)
EDN3	ENSP00000360067³	STRING (score=.963)
EDNRA	ENSP00000315011³	STRING (score=.956)
EDNRB	ENSP00000366416³	STRING (score=.942)
EDN2	ENSP00000361668³	STRING (score=.918)

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5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0001921	positive regulation of receptor recycling	IMP	18039931
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IC	7805846
GO:0006915	apoptosis	IEA	--
GO:0007507	heart development	IMP	9915973

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for ECE1

Sigma-Aldrich Small Molecules for ECE1:

Inhibitor

Compounds for ECE1 available from Tocris Bioscience

Compound	Action	CAS number
CGS 35066	Endothelin-converting enzyme (ECE) inhibitor	[261619-50-5]

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10/14 Novoseek chemical compound relationships for ECE1 gene (see all 14 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	41.31	20	11389689 (1), 11831855 (1), 9409753 (1), 10620363 (1) (see all 15)
phosphonate	38.38	3	18160283 (1), 9595403 (1), 8587470 (1)
thermolysin	36.93	4	8587473 (2), 9141502 (1)
1,10-phenanthroline	34.73	1	15969636 (1)
glucose	3.02	21	15010576 (5), 18974277 (5)
saponins	2.75	1	7880721 (1)
cholesterol	2.68	1	10359648 (1)
nitric oxide	1.04	8	15614027 (1), 11470015 (1), 16855133 (1), 11577023 (1) (see all 6)
oligonucleotide	0.00	2	11775854 (1)
steroid	0.00	2	11326888 (2)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ECE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ECE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001397

Sigma-Aldrich siRNA and siRNA Panels for ECE1

Sigma-Aldrich shRNA for ECE1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001113347 NM_001113348 NM_001113349 NM_001397

REFSEQ mRNAs for ECE1 gene (4 alternative transcripts):

NM_001113347.1 NM_001113348.1 NM_001113349.1 NM_001397.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001113347 NM_001113348 NM_001113349 NM_001397

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001113347
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001113347
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_001113347

Additional cDNA sequence:

AB031742.1 AJ130828.1 AK123231.1 AK290656.1 AK296486.1 AK304167.1 AK309677.1 BC023596.2

BC041647.1 BC053342.1 BC063506.1 BC077076.1 BC106022.1 BC117256.1 BC126257.1 BX648351.1

CR595983.1 D43698.1 D49471.1 X98272.1 Z35307.1

24 DOTS entries:

DT.95222718 DT.95323564 DT.449339 DT.101985083 DT.100798597 DT.100798591 DT.121331779 DT.92466279

DT.92065808 DT.91938533 DT.100798593 DT.75190386 DT.92407282 DT.95296893 DT.95371472 DT.100684685

DT.100798592 DT.121331718 DT.121331726 DT.91804540 DT.92019130 DT.95132336 DT.99937968 DT.121331705

24/429 AceView cDNA sequences (see all 429 ):

BU677673 BU181081 CF125456 BG655927 CF125842 CD514738 CA449233 BG023787

BM981153 AA233760 AA279429 D49471 BU619094 BM783569 BM783776 BQ712721

AA379505 AI754170 CF147401 AI417789 F37357 BM757804 AI635609 BQ224802

highest scoring ESTs for ECE1:

Z35307 BX474342 BX474348 BX474418 D49471 AA019165 AA076418 AA076511 AA082448 AA094929

Unigene Cluster for ECE1:

Endothelin converting enzyme 1

Hs.195080 [show with all ESTs]

Unigene Representative Sequence: NM_001113347

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ECE1 (see all 8 )

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15a	·	15b	·	15c	·	15d	·	15e	^	16	^	17	^
SP1:			-				-		-																						-								-								-
SP2:																															-								-								-
SP3:							-		-
SP4:																																															-
SP5:									-

ExUns:	18	^	19a	·	19b	^	20a	·	20b	·	20c
SP1:			-
SP2:			-
SP3:
SP4:			-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for ECE1

4 Ensembl transcripts including schematic representations:

ENST00000374894 ENST00000357071 ENST00000264205 ENST00000374893

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ECE1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ECE1

¹ / ² / ³

6 probe-sets matching ECE1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
45721_at²^{, 3}	U95-B	1	1.00	1.00	0.88	1.13	AL039866	0.40	1.00	0.76	1
41726_at²^{, 3}	U95-A	1	1.00	1.00	0.83	0.88	Z35307	1.00	1.00	1.00	1
201749_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BF969352	0.40	1.00	0.76	1
201750_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001397	0.60	1.00	0.82	1
201749_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201750_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ECE1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCTCAGGTCT

SOURCE GeneReport for Unigene cluster: Hs.195080
Expression variation in blood from EXPOLDB for ECE1
UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892
Tissue specificity: All isoforms are expressed in umbilical vein endothelial cells, polynuclear
neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also
expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in
liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein
smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ECE1 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ECE1¹	--	endothelin converting enzyme 1	90.98(n) 95.14(a)	487388 XM_544514.2 XP_544514.2
chimpanzee (Pan troglodytes)	ECE1¹	--	endothelin converting enzyme 1	99.13(n) 99.35(a)	456594 XM_001162780.1 XP_001162780.1
cow (Bos taurus)	ECE1¹	--	endothelin converting enzyme 1	89.71(n) 94.1(a)	281133 NM_181009.2 NP_851352.1
rat (Rattus norvegicus)	Ece1¹	--	endothelin converting enzyme 1	89.51(n) 95.22(a)	94204 NM_053596.1 NP_446048.1
mouse (Mus musculus)	Ece1^{1, 5}	4⁵	endothelin converting enzyme 1^{1, 5}	88.98(n)¹ 95.88(a)¹	230857¹ NM_199307.1¹ NP_955011.1¹ AI327116⁵ AI551117⁵ (see all 39)

About this table Species with no ortholog for ECE1

ENSEMBL Gene Tree for ECE1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ECE1 gene

ECE2² ECEL1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/630 NCBI SNPs in ECE1 are shown (see all 630 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 300)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6701890^1,2	A,C,F,H	21418365(+)	`AGAGCA/GGGCTC`	4	--	ut3¹ ese³		8	NS EU EA WA	580
	rs1076669^1,2	A,C,F,H	21446442(-)	`GCAGAC/TCTTGG`	4	T/I	mis¹		20	EA NA MN EU WA NS	1476
	rs213046^1,2	A,C,F,H	21490333(+)	`ACCCCA/CGAGAG`	1	--	ng3¹		10	EU EA WA NS	754
	rs3026913^1,2	A,C,F,H	21417188(-)	`CTCCAG/ATAGCA`	4	--	ut3¹		12	NS EU EA WA	1000
	rs213045^1,2	C,F,H,O	21489832(+)	`TCGATG/TTGGCC`	1	--	ng3¹		11	MN EA EU WA NA	2532
--	rs3026914^1,2	C,F,H	21417089(-)	`CACGTG/ACCCTC`	4	--	ut3¹		7	EU EA NS	464
	rs3026908^1,2	A,C,F	21418901(-)	`CAGCCG/AGAACC`	4	--	ut3¹ ese³		5	NS NA	204
	rs3026912^1,2	C,F,H	21417322(-)	`TTGTCG/AGCCCC`	4	--	ut3¹		8	EU EA WA NS	582
--	rs6701077^1,2	A,C,F	21417378(+)	`TGCCCT/CGTGCC`	4	--	ut3¹		4	NS	162
	rs3026910^1,2	C,F,H	21418320(-)	`GCTAGC/GCTGCC`	4	--	ut3¹		8	NS EU EA WA	578

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HapMap Linkage Disequilibrium images for ECE1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600423

UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892

Defects in ECE1 are a cause of Hirschsprung disease, cardiac defects and autonomic

dysfunction [MIM:600423]. It is a form of Hirschsprung disease [MIM:142623] with skip-lesions

defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction

10/42 Novoseek disease relationships for ECE1 gene (see all 42 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hirschsprung disease	56.67	4	9915973 (1), 17131407 (1), 15294878 (1)
cerebral vasospasm	46.87	2	9254094 (1), 15279581 (1)
heart failure	44.12	9	10217651 (2), 15085059 (1), 11082385 (1), 12193094 (1) (see all 8)
hypertension pulmonary	42.25	4	9741571 (3)
cardiovascular diseases	40.02	11	9607404 (3), 9595398 (2), 10082746 (1), 12193062 (1) (see all 8)
atherosclerosis	39.95	25	15320823 (3), 12028873 (2), 11514370 (2), 18997155 (2) (see all 10)
vasospasm	33.59	4	9254094 (2), 17164035 (1), 12187489 (1)
preeclampsia	23.92	1	14572358 (1)
renal failure	21.34	1	11334385 (1)
animal diseases	20.45	4	15279581 (1), 11078330 (1)

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GeneTests: ECE1

Hirschsprung Disease

Human Gene Mutation Database: ECE1
Genetic Association Database: ECE1
Human Genome Epidemiology Navigator: ECE1 (14 documents)

(Possibly Related Articles in Doctor's Guide)
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Additional Genetic Mutations Found in SIDS Babies: Focus is on the Autonomic Nervous System

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/293 PubMed articles for ECE1 gene (see all 293 ):

Cloning and functional expression of human endothelin-converting enzyme cDNA. (PubMed id 7864876)^{2, 3, 4} Shimada K....Tanzawa K. (1995)
Molecular characterization of human and bovine endothelin converting enzyme (ECE-1). (PubMed id 7805846)^{2, 3, 4} Schmidt M.... Hillen H. (1994)
Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling. (PubMed id 17592116)^{1, 2, 3} Roosterman D....Steinhoff M. (2007)
Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations. (PubMed id 9396733)^{1, 3, 4} Schweizer A.... Loeffler B.-M. (1997)
Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study. (PubMed id 15126915)^{1, 3, 6} Funalot B....Ducimetiere P. (2004)
Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)^{1, 3, 6} Weese-Mayer D.E....Marazita M.L. (2004)
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. (PubMed id 9915973)^{1, 3, 4} Hofstra R.M.W.... Buys C.H.C.M. (1999)
Cloning and sequencing of a human endothelin converting enzyme in renal adenocarcinoma (ACHN) cells producing endothelin-2. (PubMed id 7695628)^{1, 3, 4} Yorimitsu K.... Kimura S. (1995)
Organization of the gene encoding the human endothelin-converting enzyme (ECE-1). (PubMed id 8530372)^{1, 3, 4} Valdenaire O.... Mattei M.-G. (1995)
Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PubMed id 18992253)^{3, 4} Schulz H.... Oefner C. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 1889	HGNC: 3146	AceView: ECE1	Ensembl:ENSG00000117298	euGenes: HUgn1889
ECgene: ECE1	H-InvDB: ECE1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for ECE1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ECE1
NIEHS-SNPs	http://egp.gs.washington.edu/data/ece1/

Licensable Technologies for ECE1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ECE1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ECE1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ECE1		Antibodies for ECE1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ECE1		Small molecules for ECE1
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ECE1)
	Antibodies (ECE1)
	Chimera RNAi (ECE1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (ECE1)
	Antibodies (ECE1)

Search OriGene for ECE1

Tocris compounds for ECE1

	Drugs for ECE1
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for ECE1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ECE1 Gene at Home site.
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ECE1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for ECE1

Summaries
for ECE1

Genomic Location
for ECE1

Proteins
for ECE1

Protein Domains/
Families
for ECE1

Gene Function
for ECE1

Pathways & Interactions
for ECE1

Drugs & Compounds
for ECE1

Transcripts
for ECE1

Expression
for ECE1

Orthologs
for ECE1

Paralogs
for ECE1

SNPs/Variants
for ECE1

Disorders & Mutations
for ECE1

Medical News
for ECE1

Publications
for ECE1

Search for ECE1

Genome Databases showing ECE1

Other Databases showing ECE1

Specialized Databases showing ECE1

Licensable Technologies
for ECE1

Services
for ECE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ECE1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ECE1

Summariesfor ECE1

Genomic Locationfor ECE1

Proteinsfor ECE1

Protein Domains/Familiesfor ECE1

Gene Functionfor ECE1

Pathways & Interactionsfor ECE1

Drugs & Compoundsfor ECE1

Transcriptsfor ECE1

Expression for ECE1

Orthologsfor ECE1

Paralogsfor ECE1

SNPs/Variantsfor ECE1

Disorders & Mutationsfor ECE1

Medical Newsfor ECE1

Publicationsfor ECE1

Search for ECE1

Genome Databases showing ECE1

Other Databases showing ECE1

Specialized Databases showing ECE1

Licensable Technologiesfor ECE1

Servicesfor ECE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ECE1

Summaries
for ECE1

Genomic Location
for ECE1

Proteins
for ECE1

Protein Domains/
Families
for ECE1

Gene Function
for ECE1

Pathways & Interactions
for ECE1

Drugs & Compounds
for ECE1

Transcripts
for ECE1

Expression
for ECE1

Orthologs
for ECE1

Paralogs
for ECE1

SNPs/Variants
for ECE1

Disorders & Mutations
for ECE1

Medical News
for ECE1

Publications
for ECE1

Licensable Technologies
for ECE1

Services
for ECE1