Seroatlas · Human Serome Atlas

ECE1

Endothelin-converting enzyme 1

Also known as: ECE, ECE1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P42892
Gene
ECE1
Ensembl
ENSG00000117298
Chromosome
1
Canonical length
770 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

770 residues, UniProt reviewed canonical sequence.

>P42892|ECE1
     1  MRGVWPPPVS ALLSALGMST YKRATLDEED LVDSLSEGDA YPNGLQVNFH SPRSGQRCWA
    61  ARTQVEKRLV VLVVLLAAGL VACLAALGIQ YQTRSPSVCL SEACVSVTSS ILSSMDPTVD
   121  PCHDFFSYAC GGWIKANPVP DGHSRWGTFS NLWEHNQAII KHLLENSTAS VSEAERKAQV
   181  YYRACMNETR IEELRAKPLM ELIERLGGWN ITGPWAKDNF QDTLQVVTAH YRTSPFFSVY
   241  VSADSKNSNS NVIQVDQSGL GLPSRDYYLN KTENEKVLTG YLNYMVQLGK LLGGGDEEAI
   301  RPQMQQILDF ETALANITIP QEKRRDEELI YHKVTAAELQ TLAPAINWLP FLNTIFYPVE
   361  INESEPIVVY DKEYLEQIST LINTTDRCLL NNYMIWNLVR KTSSFLDQRF QDADEKFMEV
   421  MYGTKKTCLP RWKFCVSDTE NNLGFALGPM FVKATFAEDS KSIATEIILE IKKAFEESLS
   481  TLKWMDEETR KSAKEKADAI YNMIGYPNFI MDPKELDKVF NDYTAVPDLY FENAMRFFNF
   541  SWRVTADQLR KAPNRDQWSM TPPMVNAYYS PTKNEIVFPA GILQAPFYTR SSPKALNFGG
   601  IGVVVGHELT HAFDDQGREY DKDGNLRPWW KNSSVEAFKR QTECMVEQYS NYSVNGEPVN
   661  GRHTLGENIA DNGGLKAAYR AYQNWVKKNG AEHSLPTLGL TNNQLFFLGF AQVWCSVRTP
   721  ESSHEGLITD PHSPSRFRVI GSLSNSKEFS EHFRCPPGSP MNPPHKCEVW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ECE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
120 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 120 nTPM
  • parathyroid gland: 118 nTPM
  • blood vessel: 93 nTPM
  • pancreas: 87 nTPM
  • adipose tissue: 84 nTPM
  • breast: 77 nTPM

Single-cell type

  • neutrophils: 1,703 nCPM
  • adrenal cortex cells: 295 nCPM
  • respiratory secretory cells: 292 nCPM
  • respiratory basal cells: 258 nCPM
  • platelets: 246 nCPM
  • myosatellite cells: 241 nCPM

Immune cell

  • neutrophil: 30 nTPM
  • intermediate monocyte: 10 nTPM
  • T-reg: 8.6 nTPM
  • classical monocyte: 8.4 nTPM
  • non-classical monocyte: 7.8 nTPM
  • total PBMC: 7.2 nTPM

Brain region

  • medulla oblongata: 66 nTPM
  • hypothalamus: 65 nTPM
  • pons: 58 nTPM
  • basal ganglia: 54 nTPM
  • thalamus: 53 nTPM
  • cerebral cortex: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ECE1.

Disease | AllUniProt

Conditions ECE1 is implicated in, by any mechanism.

  • Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) MIM:613870

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 180 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.32
gnomAD pLI
0.96
gnomAD missense Z
2.31
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ECE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ECE1 as an antibody target. Whether an autoantibody or antibody against ECE1 could matter depends on whether native ECE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ECE1 is annotated at the cell surface, where native ECE1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ECE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ECE1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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