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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ECE1 Gene

protein-coding GIFtS: 70
GCID: GC01M021543

endothelin converting enzyme 1

(Previous symbol: ECE)

Explore 60 diseases affiliated with
ECE1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Endothelin Converting Enzyme 1¹ ²
ECE¹ ²
ECE-1² ³
EC 3.4.24.71³ ⁸
Endothelin-Converting Enzyme 1²
EC 3.4.24⁸

External Ids:	HGNC: 3146¹	Entrez Gene: 1889²	Ensembl: ENSG00000117298⁷	OMIM: 600423⁵	UniProtKB: P42892³

Export aliases for ECE1 gene to outside databases

Previous GC identifers: GC01M021116 GC01M020581 GC01M020692 GC01M021015 GC01M021290 GC01M021417 GC01M019789

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

Entrez Gene summary for ECE1:

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active

peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction.

Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.(provided by

RefSeq, Sep 2009)

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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ECE1 gene promoter:
POU2F1 AP-1 POU2F1a ATF-2 Hand1 c-Jun E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ECE1 promoter sequence

Search SABiosciences Chromatin IP Primers for ECE1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ECE1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
ECE1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M021543: view genomic region (about GC identifiers)

Start:	21,543,740 bp from pter	End:	21,672,034 bp from pter
Size:	128,295 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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; Sequence=CAA84548.1; Type=Erroneous

initiation;

1 PDB 3D structure from and Proteopedia for ECE1:

3DWB (3D)

Secondary accessions: A8K3P1 B4E291 Q14217 Q17RN5 Q2Z2K8 Q58GE7 Q5THM5 Q5THM7 Q5THM8 Q9UJQ6 Q9UPF4

Q9UPM4 Q9Y501

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

Explore the universe of human proteins at neXtProt for ECE1: NX_P42892

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P42892

4/17 DME Specific Peptides for ECE1 (P42892) (see all 17)

FPAGILQ

HAFDDQG

AYRAYQN

LGGWNITG

ECE1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

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

ENSEMBL proteins:

ENSP00000405088 ENSP00000349581 ENSP00000364028 ENSP00000388439 ENSP00000264205

ENSP00000431856 ENSP00000436633 ENSP00000432860

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for ECE1 (ECE-1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ECE1 OriGene Protein Over-expression Lysate (see all 2): ECE1 OriGene Custom Protein Services for ECE1
	GenScript Custom Purified and Recombinant Proteins Services for ECE1
	Novus Biologicals ECE1 Protein Novus Biologicals ECE1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ECE1

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005768	endosome	IDA	18039931
GO:0005769	early endosome	IDA	18039931
GO:0005886	plasma membrane	IDA	18039931
GO:0009897	external side of plasma membrane	IDA	9449382

ECE1 for ontologies About GeneDecksing

ECE1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for ECE1 (ECE-1)
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	Novus Biologicals ECE1 Antibodies
	Abcam antibodies for ECE1
	Uscn Antibodies for ECE1
	ThermoFisher Antibody for ECE1

Assay Products for ECE1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript ECE1-Activity-based Protease Assay for Compound Screening
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ECE1

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

ECE1 for domains About GeneDecksing

4 InterPro domains/families:

IPR024079 MetalloPept_cat_dom

IPR008753 Peptidase_M13_N

IPR000718 Peptidase_M13

IPR018497 Peptidase_M13_C

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

Enzyme Numbers (IUBMB): EC 3.4.24.71¹ ² EC 3.4.24²

miRNA Products:		OriGene 3'-UTR Clone (see all 4): ECE1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ECE1
		8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate ECE1 (see all 51):
		hsa-miR-194* hsa-miR-1197 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-4267 hsa-miR-374c hsa-miR-124

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ECE1 (see all 7) OriGene shRNA RFP: ECE1 OriGene siRNA: ECE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ECE1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ECE1

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ECE1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ECE1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): ECE1 (NM_001113349)
		Sino Biological Human cDNA Clone for ECE1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECE1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECE1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ECE1
		Search LifeMap BioReagents cell lines for ECE1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECE1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004175	endopeptidase activity	IDA	18039931
GO:0004222	metalloendopeptidase activity	ISS	8062389
GO:0017046	peptide hormone binding	IC	7864876
GO:0042803	protein homodimerization activity	IPI	7805846
GO:0046872	metal ion binding	IEA	--

ECE1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ECE1:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Ece1^tm1Reh for ECE1
15/16 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ece1) (see all 16):

cardiovascular system	craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	mortality/aging
muscle	nervous system	normal	pigmentation	skeleton

ECE1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

A-beta Uptake & Degradation

A-beta Uptake & Degradation

1.00

Endothelin

Endothelin

1.00

PEDF Induced Signaling

Endothelin-1 Signaling Pathway

0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for ECE1

A-beta Uptake & Degradation

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ECE1

Endothelin-1 Signaling Pathway

2 BioSystems Pathways for ECE1

	SIDS Susceptibility Pathways
	Endothelin

Interactions:

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

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for ECE1 (P42892³ ENSP00000364028⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EDN1	P05305³, ENSP00000368683⁴	I2D: score=1 STRING: ENSP00000368683
MYOC	Q99972³, ENSP00000037502⁴	I2D: score=1 STRING: ENSP00000037502
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	--	--
GO:0001921	positive regulation of receptor recycling	IMP	18039931
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IC	7805846
GO:0006508	proteolysis	IEA	--
GO:0006915	apoptotic process	--	--

ECE1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ECE1 for compounds About GeneDecksing

EMD Millipore small molecules for ECE1:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for ECE1 available from Tocris Bioscience About this table

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

1 DrugBank Compound for ECE1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
5-(2-hydroxyethyl)nonane-1,9-diol	--	--	target	--	10592235

10/24 Novoseek chemical compound relationships for ECE1 gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphoramidon	92.6	76	7550091 (5), 12827039 (4), 8587470 (4), 8828809 (2) (see all 42)
thiorphan	89.2	18	8825361 (1), 17643133 (1), 8615890 (1), 12193062 (1) (see all 13)
thermolysin	44.1	7	8587473 (2), 7529108 (1), 9141502 (1)
prostacyclin	42.3	3	11470015 (1), 16855133 (1), 11067800 (1)
zinc	41.1	20	11389689 (1), 11831855 (1), 9409753 (1), 10620363 (1) (see all 15)
phosphonate	36.8	3	18160283 (1), 9595403 (1), 8587470 (1)
1,10-phenanthroline	33.4	1	15969636 (1)
captopril	32.5	2	7864859 (1), 7797512 (1)
glucose	2.89	21	15010576 (5), 18974277 (5)
cholesterol	2.67	1	10359648 (1)

Search CenterWatch for drugs/clinical trials and news about ECE1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ECE1 gene (4 alternative transcripts):

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

Unigene Cluster for ECE1:

Endothelin converting enzyme 1

Hs.195080 [show with all ESTs]

Unigene Representative Sequence: NM_001113347

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000415912(uc001bej.2 uc001bei.2 uc001bek.2 uc010odl.1 uc001bem.2)

ENST00000357071 ENST00000531334 ENST00000374893 ENST00000436918 ENST00000264205

ENST00000526194(uc009vqa.1) ENST00000470394 ENST00000528294 ENST00000473505

ENST00000481130 ENST00000527991 ENST00000463334

miRNA Products:		OriGene 3'-UTR Clone (see all 4): ECE1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ECE1
		8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate ECE1 (see all 51):
		hsa-miR-194* hsa-miR-1197 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-4267 hsa-miR-374c hsa-miR-124

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ECE1 (see all 7) OriGene shRNA RFP: ECE1 OriGene siRNA: ECE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ECE1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ECE1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ECE1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): ECE1 (NM_001113349)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECE1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECE1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ECE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ECE1

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

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

23 DOTS entries:

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

DT.92065808 DT.100798593 DT.92407282 DT.75190386 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 BM783569 CF125456 BQ003001 CD514738 BP356321 BM783776 BU617914

AI927466 BP352651 BM669522 CD244093 Z41348 CB109726 T27655 AW575802

AA001771 BF437033 BM756049 AI417789 BC023596 CD364951 NM_001397 AI434595

GeneLoc Exon Structure

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

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:

ECgene alternative splicing isoforms for ECE1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ECE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTCAGGTCT

About this image

ECE1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See ECE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ECE1

SOURCE GeneReport for Unigene cluster: Hs.195080

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

SABiosciences Expression via Pathway-Focused PCR Array including ECE1:

Hypertension in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ECE1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ECE1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ECE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ECE1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECE1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ECE1 gene from 5/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ECE1¹	endothelin converting enzyme 1	78.65(n) 82.96(a)		395459 NM_204717.1 NP_990048.1
lizard (Anolis carolinensis)	Reptilia	ECE1⁶	--	65(a)	1 ↔ 1	AAWZ02037209(2193-17670)
African clawed frog (Xenopus laevis)	Amphibia	ece1-prov²	Endothelin-converting enzyme 1	78.49(n)		BC046653.1
zebrafish (Danio rerio)	Actinopterygii	ece1¹	endothelin converting enzyme 1	68(n) 67.64(a)		777750 NM_001077792.1 NP_001071260.1
fruit fly (Drosophila melanogaster)	Insecta	CG6265³ Nep3¹	endothelin-converting enzyme³ Neprilysin 3¹	48(a) (best of 15)³ 54.78(n)¹ 46.19(a)¹		97E1³ 33005¹ NM_078693.3¹ NP_523417.2¹

ENSEMBL Gene Tree for ECE1 (if available)
TreeFam Gene Tree for ECE1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ECE1 gene

PHEX² MME² KEL² ECE2² MMEL1² ECEL1²

6 SIMAP similar genes for ECE1 using alignment to 5 protein entries: ECE1_HUMAN (see all proteins):

ECE2 MME MMEL1 PHEX ECEL1 KEL

ECE1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3026906^1,2	C,O,H	pathogenic	21546501(-)	`ACTTCC/TGCTGC`	8	R C	mis¹ ese³		7		NS EA NA EU	1743
rs72870606^1,2	C,	--	19919121(+)	`AATGAC/GTGGAA`	1	--	int¹		2		WA	120
rs111932630^1,2	C,	--	19919386(+)	`AACTCG/ATCTCT`	1	--	int¹		2		CSA WA	120
rs144403010^1,2		--	21543275(+)	`CAGTAC/GAGCTG`	4	--	ds500¹		0	--	--	--	--
rs146620263^1,2		--	21543373(+)	`TGCATA/GAGTCA`	4	--	ds500¹		0	--	--	--	--
rs183514595^1,2		--	21543410(+)	`CTTTGA/CTTTTC`	4	--	ds500¹		0	--	--	--	--
rs3026918^1,2	C,F,H,	--	21543459(-)	`AGCAAG/AGGAGT`	4	--	ds500¹		18		NS EA WA NA	2342
rs3026917^1,2	C,F,H,	--	21543568(-)	`CCTTCC/TTTCAC`	4	--	ds500¹		5		NS EA WA	538
rs3026916^1,2	C,F,H,	--	21543675(-)	`CTGTCC/TACCCT`	4	--	ds500¹		6		NS EA NA	542
rs113434827^1,2	C	--	21543742(+)	`ATGGCC/G/TCTCCG`	8	--	ut3¹		1		CSA	1

HapMap Linkage Disequilibrium report for ECE1 (21543740 - 21672034 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ECE1
1 Indel: 68203
Human Gene Mutation Database (HGMD): ECE1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ECE1 for disorders           About GeneDecksing

OMIM gene information: 600423
OMIM disorders: 145500
UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892

Defects in ECE1 are a cause of Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD)

[MIM:613870]. It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other

dysmorphic features, and autonomic dysfunction

20/60 diseases for ECE1 (see all 60): About MalaCards

hirschsprung disease, cardiac defects, and autonomic dysfunction autonomic dysfunction hirschsprung's disease sudden infant death syndrome

doxorubicin induced cardiomyopathy non-small cell lung carcinoma craniofacial abnormalities orthostatic intolerance

congestive heart failure sleep apnea idiopathic pulmonary fibrosis atrial fibrillation

polycystic kidney disease coronary heart disease pulmonary fibrosis hypertension

bronchial asthma cardiomyopathy vascular dementia diffuse astrocytoma

2 diseases from the University of Copenhagen DISEASES database for ECE1:

Hirschsprung's disease Hypertension

10/43 Novoseek disease relationships for ECE1 gene (see all 43) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hirschsprung disease	55.5	4	9915973 (1), 17131407 (1), 15294878 (1)
cerebral vasospasm	45.7	2	9254094 (1), 15279581 (1)
heart failure	42.3	9	10217651 (2), 15085059 (1), 11082385 (1), 12193094 (1) (see all 8)
hypertension pulmonary	40.6	4	9741571 (3)
atherosclerosis	39.4	26	15320823 (3), 12028873 (2), 11514370 (2), 18997155 (2) (see all 11)
cardiovascular diseases	38.8	11	9607404 (3), 9595398 (2), 10082746 (1), 12193062 (1) (see all 8)
vasospasm	32.3	4	9254094 (2), 17164035 (1), 12187489 (1)
preeclampsia	22	1	14572358 (1)
renal failure	19.8	1	11334385 (1)
animal diseases	18.3	4	15279581 (1), 11078330 (1)

GeneTests: ECE1

Hirschsprung Disease

Genetic Association Database (GAD): ECE1
Human Genome Epidemiology (HuGE) Navigator: ECE1 (23 documents)

Export disorders for ECE1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ECE1 gene, integrated from 9 sources (see all 339):
(articles sorted by number of sources associating them with ECE1)

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Cloning and functional expression of human endothelin-converting enzyme cDNA. (PubMed id 7864876)^{1, 2, 3} Shimada K....Tanzawa K. (1995)
Molecular characterization of human and bovine endothelin converting enzyme (ECE-1). (PubMed id 7805846)^{1, 2, 3} Schmidt M.... Hillen H. (1994)
Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling. (PubMed id 17592116)^{1, 3, 9} Roosterman D....Steinhoff M. (2007)
Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations. (PubMed id 9396733)^{1, 2, 9} 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, 4, 9} 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, 4, 9} Weese-Mayer D.E....Marazita M.L. (2004)
Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PubMed id 18992253)^{1, 2, 9} Schulz H.... Oefner C. (2009)
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, 2, 9} 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, 2, 9} Yorimitsu K.... Kimura S. (1995)
Organization of the gene encoding the human endothelin-converting enzyme (ECE-1). (PubMed id 8530372)^{1, 2, 9} Valdenaire O.... Mattei M.-G. (1995)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, 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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ECE1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ECE1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ECE1
NIEHS-SNPs	http://egp.gs.washington.edu/data/ece1/

Intellectual Property for ECE1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ECE1 gene:
Search GeneIP for patents involving ECE1

GeneCards and IP:
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endothelin converting enzyme 1

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ECE1 Gene

endothelin converting enzyme 1

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