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Protein

Endothelin-converting enzyme 1

Gene

ECE1

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

Functioni

Converts big endothelin-1 to endothelin-1.1 Publication

Catalytic activityi

Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.

Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

Activity regulationi

Inhibited by phosphoramidon.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi607Zinc; catalytic1 Publication1
Active sitei6081 Publication1
Metal bindingi611Zinc; catalytic1 Publication1
Metal bindingi667Zinc; catalytic1 Publication1
Active sitei671Proton donorPROSITE-ProRule annotation1 Publication1

GO - Molecular functioni

  • endopeptidase activity Source: BHF-UCL
  • metalloendopeptidase activity Source: BHF-UCL
  • peptide hormone binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • zinc ion binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.71 2681
ReactomeiR-HSA-375276 Peptide ligand-binding receptors
SIGNORiP42892

Protein family/group databases

MEROPSiM13.002

Names & Taxonomyi

Protein namesi
Recommended name:
Endothelin-converting enzyme 1 (EC:3.4.24.71)
Short name:
ECE-1
Gene namesi
Name:ECE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117298.14
HGNCiHGNC:3146 ECE1
MIMi600423 gene
neXtProtiNX_P42892

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 – 68CytoplasmicSequence analysisAdd BLAST68
Transmembranei69 – 89Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini90 – 770ExtracellularSequence analysisAdd BLAST681

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.
See also OMIM:613870
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026747754R → C in HCAD. 1 PublicationCorresponds to variant dbSNP:rs3026906Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi428C → S: Abolishes dimerization. 1 Publication1

Keywords - Diseasei

Disease mutation, Hirschsprung disease

Organism-specific databases

DisGeNETi1889
GeneReviewsiECE1
MalaCardsiECE1
MIMi613870 phenotype
OpenTargetsiENSG00000117298
Orphaneti388 Hirschsprung disease
PharmGKBiPA27594

Chemistry databases

ChEMBLiCHEMBL4791
GuidetoPHARMACOLOGYi1615

Polymorphism and mutation databases

BioMutaiECE1
DMDMi1706563

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000782201 – 770Endothelin-converting enzyme 1Add BLAST770

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphothreonineCombined sources1
Glycosylationi166N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi187N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi210N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi270N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi316N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi362N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi383N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi428Interchain
Glycosylationi539N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi632N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi651N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP42892
MaxQBiP42892
PaxDbiP42892
PeptideAtlasiP42892
PRIDEiP42892
ProteomicsDBi55562
55563 [P42892-2]
55564 [P42892-3]
55565 [P42892-4]

PTM databases

GlyConnecti1207
iPTMnetiP42892
PhosphoSitePlusiP42892
SwissPalmiP42892

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000117298 Expressed in 228 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiP42892 baseline and differential
GenevisibleiP42892 HS

Organism-specific databases

HPAiHPA001490
HPA013616

Interactioni

Subunit structurei

Homodimer; disulfide-linked (PubMed:18992253). Interacts with PPP1R16B (By similarity).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108218, 31 interactors
IntActiP42892, 16 interactors
MINTiP42892
STRINGi9606.ENSP00000364028

Chemistry databases

BindingDBiP42892

Structurei

Secondary structure

1770
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP42892
SMRiP42892
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP42892

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00760000119162
HOGENOMiHOG000245574
HOVERGENiHBG005554
InParanoidiP42892
KOiK01415
OMAiWPKALNF
OrthoDBiEOG091G025Y
PhylomeDBiP42892
TreeFamiTF315192

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR029733 ECE1/ECE2
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PTHR11733:SF130 PTHR11733:SF130, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform B (identifier: P42892-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRGVWPPPVS ALLSALGMST YKRATLDEED LVDSLSEGDA YPNGLQVNFH
60 70 80 90 100
SPRSGQRCWA ARTQVEKRLV VLVVLLAAGL VACLAALGIQ YQTRSPSVCL
110 120 130 140 150
SEACVSVTSS ILSSMDPTVD PCHDFFSYAC GGWIKANPVP DGHSRWGTFS
160 170 180 190 200
NLWEHNQAII KHLLENSTAS VSEAERKAQV YYRACMNETR IEELRAKPLM
210 220 230 240 250
ELIERLGGWN ITGPWAKDNF QDTLQVVTAH YRTSPFFSVY VSADSKNSNS
260 270 280 290 300
NVIQVDQSGL GLPSRDYYLN KTENEKVLTG YLNYMVQLGK LLGGGDEEAI
310 320 330 340 350
RPQMQQILDF ETALANITIP QEKRRDEELI YHKVTAAELQ TLAPAINWLP
360 370 380 390 400
FLNTIFYPVE INESEPIVVY DKEYLEQIST LINTTDRCLL NNYMIWNLVR
410 420 430 440 450
KTSSFLDQRF QDADEKFMEV MYGTKKTCLP RWKFCVSDTE NNLGFALGPM
460 470 480 490 500
FVKATFAEDS KSIATEIILE IKKAFEESLS TLKWMDEETR KSAKEKADAI
510 520 530 540 550
YNMIGYPNFI MDPKELDKVF NDYTAVPDLY FENAMRFFNF SWRVTADQLR
560 570 580 590 600
KAPNRDQWSM TPPMVNAYYS PTKNEIVFPA GILQAPFYTR SSPKALNFGG
610 620 630 640 650
IGVVVGHELT HAFDDQGREY DKDGNLRPWW KNSSVEAFKR QTECMVEQYS
660 670 680 690 700
NYSVNGEPVN GRHTLGENIA DNGGLKAAYR AYQNWVKKNG AEHSLPTLGL
710 720 730 740 750
TNNQLFFLGF AQVWCSVRTP ESSHEGLITD PHSPSRFRVI GSLSNSKEFS
760 770
EHFRCPPGSP MNPPHKCEVW
Length:770
Mass (Da):87,164
Last modified:October 1, 1996 - v2
Checksum:iDD88A59748B22F80
GO
Isoform A (identifier: P42892-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MRGVWPPPVS...LSEGDAYPNG → MPLQGLGLQRNPFLQGKRGPGLTSSPPLLPPS

Show »
Length:758
Mass (Da):85,808
Checksum:i4768314E789DFF96
GO
Isoform C (identifier: P42892-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MRGVWPPPVSALLSALG → M

Show »
Length:754
Mass (Da):85,562
Checksum:iA16E45032B03029D
GO
Isoform D (identifier: P42892-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MRGVWPPPVSALLSALG → MEALRESVLHLALQ

Show »
Length:767
Mass (Da):87,022
Checksum:i09B58AF5A63882F4
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DKB2B4DKB2_HUMAN
Endothelin-converting enzyme 1
ECE1
738Annotation score:
E9PHZ1E9PHZ1_HUMAN
Endothelin-converting enzyme 1
ECE1
134Annotation score:
E9PN99E9PN99_HUMAN
Endothelin-converting enzyme 1
ECE1
103Annotation score:
E9PJG1E9PJG1_HUMAN
Endothelin-converting enzyme 1
ECE1
77Annotation score:

Sequence cautioni

The sequence AAX35820 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAA84548 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011972341T → I1 PublicationCorresponds to variant dbSNP:rs1076669EnsemblClinVar.1
Natural variantiVAR_026747754R → C in HCAD. 1 PublicationCorresponds to variant dbSNP:rs3026906Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0055021 – 44MRGVW…AYPNG → MPLQGLGLQRNPFLQGKRGP GLTSSPPLLPPS in isoform A. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_0055041 – 17MRGVW…LSALG → M in isoform C. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_0055031 – 17MRGVW…LSALG → MEALRESVLHLALQ in isoform D. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D49471 mRNA Translation: BAA08442.1
D43698 mRNA Translation: BAA07800.1
X91922
, X91923, X91924, X91925, X91926, X91927, X91928, X91929, X91930, X91931, X91932, X91933, X91934, X91935, X91936, X91937, X91938, X91939 Genomic DNA Translation: CAA63015.1
X91923
, X91924, X91925, X91926, X91927, X91928, X91929, X91930, X91931, X91932, X91933, X91934, X91935, X91936, X91937, X91938, X91939 Genomic DNA Translation: CAA63016.1
AB031742 mRNA Translation: BAA83687.1
AK290656 mRNA Translation: BAF83345.1
AK304167 mRNA Translation: BAG65053.1
AY953519 Genomic DNA Translation: AAX35820.1 Sequence problems.
AL031005 Genomic DNA No translation available.
AL031728 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94959.1
CH471134 Genomic DNA Translation: EAW94964.1
BC117256 mRNA Translation: AAI17257.1
BC126257 mRNA Translation: AAI26258.1
AJ130828 mRNA Translation: CAB46443.1
X98272 mRNA Translation: CAA66922.1
Z35307 mRNA Translation: CAA84548.1 Different initiation.
AF018034 Genomic DNA Translation: AAD21221.1
CCDSiCCDS215.1 [P42892-1]
CCDS44081.1 [P42892-3]
CCDS44082.1 [P42892-4]
CCDS44083.1 [P42892-2]
PIRiJC2521
JC4136
RefSeqiNP_001106818.1, NM_001113347.1 [P42892-2]
NP_001106819.1, NM_001113348.1 [P42892-3]
NP_001106820.1, NM_001113349.1 [P42892-4]
NP_001388.1, NM_001397.2 [P42892-1]
XP_006710461.1, XM_006710398.2
XP_011539175.1, XM_011540873.2
XP_016856000.1, XM_017000511.1
UniGeneiHs.195080

Genome annotation databases

EnsembliENST00000264205; ENSP00000264205; ENSG00000117298 [P42892-4]
ENST00000357071; ENSP00000349581; ENSG00000117298 [P42892-2]
ENST00000374893; ENSP00000364028; ENSG00000117298 [P42892-1]
ENST00000415912; ENSP00000405088; ENSG00000117298 [P42892-3]
GeneIDi1889
KEGGihsa:1889
UCSCiuc001bei.3 human [P42892-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D49471 mRNA Translation: BAA08442.1
D43698 mRNA Translation: BAA07800.1
X91922
, X91923, X91924, X91925, X91926, X91927, X91928, X91929, X91930, X91931, X91932, X91933, X91934, X91935, X91936, X91937, X91938, X91939 Genomic DNA Translation: CAA63015.1
X91923
, X91924, X91925, X91926, X91927, X91928, X91929, X91930, X91931, X91932, X91933, X91934, X91935, X91936, X91937, X91938, X91939 Genomic DNA Translation: CAA63016.1
AB031742 mRNA Translation: BAA83687.1
AK290656 mRNA Translation: BAF83345.1
AK304167 mRNA Translation: BAG65053.1
AY953519 Genomic DNA Translation: AAX35820.1 Sequence problems.
AL031005 Genomic DNA No translation available.
AL031728 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW94959.1
CH471134 Genomic DNA Translation: EAW94964.1
BC117256 mRNA Translation: AAI17257.1
BC126257 mRNA Translation: AAI26258.1
AJ130828 mRNA Translation: CAB46443.1
X98272 mRNA Translation: CAA66922.1
Z35307 mRNA Translation: CAA84548.1 Different initiation.
AF018034 Genomic DNA Translation: AAD21221.1
CCDSiCCDS215.1 [P42892-1]
CCDS44081.1 [P42892-3]
CCDS44082.1 [P42892-4]
CCDS44083.1 [P42892-2]
PIRiJC2521
JC4136
RefSeqiNP_001106818.1, NM_001113347.1 [P42892-2]
NP_001106819.1, NM_001113348.1 [P42892-3]
NP_001106820.1, NM_001113349.1 [P42892-4]
NP_001388.1, NM_001397.2 [P42892-1]
XP_006710461.1, XM_006710398.2
XP_011539175.1, XM_011540873.2
XP_016856000.1, XM_017000511.1
UniGeneiHs.195080

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3DWBX-ray2.38A101-770[»]
ProteinModelPortaliP42892
SMRiP42892
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108218, 31 interactors
IntActiP42892, 16 interactors
MINTiP42892
STRINGi9606.ENSP00000364028

Chemistry databases

BindingDBiP42892
ChEMBLiCHEMBL4791
GuidetoPHARMACOLOGYi1615

Protein family/group databases

MEROPSiM13.002

PTM databases

GlyConnecti1207
iPTMnetiP42892
PhosphoSitePlusiP42892
SwissPalmiP42892

Polymorphism and mutation databases

BioMutaiECE1
DMDMi1706563

Proteomic databases

EPDiP42892
MaxQBiP42892
PaxDbiP42892
PeptideAtlasiP42892
PRIDEiP42892
ProteomicsDBi55562
55563 [P42892-2]
55564 [P42892-3]
55565 [P42892-4]

Protocols and materials databases

DNASUi1889
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264205; ENSP00000264205; ENSG00000117298 [P42892-4]
ENST00000357071; ENSP00000349581; ENSG00000117298 [P42892-2]
ENST00000374893; ENSP00000364028; ENSG00000117298 [P42892-1]
ENST00000415912; ENSP00000405088; ENSG00000117298 [P42892-3]
GeneIDi1889
KEGGihsa:1889
UCSCiuc001bei.3 human [P42892-1]

Organism-specific databases

CTDi1889
DisGeNETi1889
EuPathDBiHostDB:ENSG00000117298.14
GeneCardsiECE1
GeneReviewsiECE1
H-InvDBiHIX0159964
HGNCiHGNC:3146 ECE1
HPAiHPA001490
HPA013616
MalaCardsiECE1
MIMi600423 gene
613870 phenotype
neXtProtiNX_P42892
OpenTargetsiENSG00000117298
Orphaneti388 Hirschsprung disease
PharmGKBiPA27594
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00760000119162
HOGENOMiHOG000245574
HOVERGENiHBG005554
InParanoidiP42892
KOiK01415
OMAiWPKALNF
OrthoDBiEOG091G025Y
PhylomeDBiP42892
TreeFamiTF315192

Enzyme and pathway databases

BRENDAi3.4.24.71 2681
ReactomeiR-HSA-375276 Peptide ligand-binding receptors
SIGNORiP42892

Miscellaneous databases

ChiTaRSiECE1 human
EvolutionaryTraceiP42892
GeneWikiiEndothelin_converting_enzyme_1
GenomeRNAii1889
PROiPR:P42892
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117298 Expressed in 228 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiP42892 baseline and differential
GenevisibleiP42892 HS

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR029733 ECE1/ECE2
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PTHR11733:SF130 PTHR11733:SF130, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiECE1_HUMAN
AccessioniPrimary (citable) accession number: P42892
Secondary accession number(s): A8K3P1
, B4E291, Q14217, Q17RN5, Q2Z2K8, Q58GE7, Q5THM5, Q5THM7, Q5THM8, Q9UJQ6, Q9UPF4, Q9UPM4, Q9Y501
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 189 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Peptidase families
    Classification of peptidase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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