• Gene id: 1889

Gene Summary

• Gene Symbol: ECE1   Gene   UCSC   Ensembl
• Aliases: ECE
• Gene name: endothelin converting enzyme 1
• Alternate names: endothelin-converting enzyme 1, ECE-1,
• Gene location: 1p36.12 (21345503: 21217249)     Exons: 23     NC_000001.11
• Gene summary(Entrez): 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 spli
• OMIM: 600423

Protein Summary

• Protein general information: P42892  
  • Name: Endothelin converting enzyme 1 (ECE 1) (EC 3.4.24.71)
  • Length: 770  
  • Mass: 87164
  • 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 phaeochromoc
• Sequence:

  MRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVL
  LAAGLVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFS
  NLWEHNQAIIKHLLENSTASVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQ
  VVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAI
  RPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYL
  EQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKTCLPRWKFCVSDTENNLGFALGPM
  FVKATFAEDSKSIATEIILEIKKAFEESLSTLKWMDEETRKSAKEKADAIYNMIGYPNFIMDPKELDKVFNDYTA
  VPDLYFENAMRFFNFSWRVTADQLRKAPNRDQWSMTPPMVNAYYSPTKNEIVFPAGILQAPFYTRSSPKALNFGG
  IGVVVGHELTHAFDDQGREYDKDGNLRPWWKNSSVEAFKRQTECMVEQYSNYSVNGEPVNGRHTLGENIADNGGL
  KAAYRAYQNWVKKNGAEHSLPTLGLTNNQLFFLGFAQVWCSVRTPESSHEGLITDPHSPSRFRVIGSLSNSKEFS
  EHFRCPPGSPMNPPHKCEVW

• Structural information:
  • Protein Domains: (98..77-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR029734  IPR024079  IPR000718  IPR018497  IPR042089   IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • PDB: 3DWB
  • PDBsum: 3DWB
  • STRING: ENSP00000364028
• Other Databases: GeneCards:  ECE1  Malacards:  ECE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060037	pharyngeal system development	IEA	biological process
GO:0017046	peptide hormone binding	IC	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0004222	metalloendopeptidase activity	ISS	molecular function
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IC	biological process
GO:0005768	endosome	IDA	cellular component
GO:0010814	substance P catabolic process	IDA	biological process
GO:0010816	calcitonin catabolic process	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0010815	bradykinin catabolic process	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0016486	peptide hormone processing	IDA	biological process
GO:0019229	regulation of vasoconstriction	IC	biological process
GO:0034959	endothelin maturation	IDA	biological process
GO:0042447	hormone catabolic process	IDA	biological process
GO:0001921	positive regulation of receptor recycling	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0031302	intrinsic component of endosome membrane	TAS	cellular component
GO:0031982	vesicle	ISS	cellular component
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0043583	ear development	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function

Diseases

Associated diseases	References
Alzheimer's disease	PMID:15340356
Hypertension	PMID:15126915
Cardiomyopathy	PMID:11145756
Coronary artery disease	PMID:8994440
Coronary artery disease	PMID:10973835
Myocardial infarction	PMID:9607404
congestive heart failure	PMID:11145756
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq