Seroatlas · Human Serome Atlas

EDN1

Endothelin-1

Also known as: EDN1_HUMAN, ET1

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

Protein identityUniProt · HPA

UniProt accession
P05305
Gene
EDN1
Ensembl
ENSG00000078401
Chromosome
6
Canonical length
212 aa
Protein class
Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
Subcellular location
Golgi apparatus
Secretome location
Secreted to blood

OverviewNCBI Gene

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

212 residues, UniProt reviewed canonical sequence.

>P05305|EDN1
     1  MDYLLMIFSL LFVACQGAPE TAVLGAELSA VGENGGEKPT PSPPWRLRRS KRCSCSSLMD
    61  KECVYFCHLD IIWVNTPEHV VPYGLGSPRS KRALENLLPT KATDRENRCQ CASQKDKKCW
   121  NFCQAGKELR AEDIMEKDWN NHKKGKDCSK LGKKCIYQQL VRGRKIRRSS EEHLRQTRSE
   181  TMRNSVKSSF HDPKLKGKPS RERYVTHNRA HW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDN1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
42 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 42 nTPM
  • lung: 34 nTPM
  • breast: 22 nTPM
  • placenta: 17 nTPM
  • basal ganglia: 15 nTPM
  • midbrain: 14 nTPM

Single-cell type

  • epididymal basal cells: 356 nCPM
  • enteric stem cells: 294 nCPM
  • endometrial glandular cells: 280 nCPM
  • pancreatic duct cells: 256 nCPM
  • breast secretory cells: 252 nCPM
  • endometrial luminal cells: 243 nCPM

Immune cell

  • non-classical monocyte: 4.9 nTPM
  • eosinophil: 0.8 nTPM
  • intermediate monocyte: 0.1 nTPM
  • myeloid DC: 0.1 nTPM
  • naive B-cell: 0.1 nTPM
  • naive CD4 T-cell: 0.1 nTPM

Brain region

  • cerebral cortex: 14 nTPM
  • thalamus: 14 nTPM
  • medulla oblongata: 13 nTPM
  • pons: 12 nTPM
  • amygdala: 11 nTPM
  • white matter: 10 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDN1.

Disease | AllUniProt

Conditions EDN1 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 68 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Auriculocondylar syndrome 3
  • Question mark ears, isolated

ReferencesPubMed · IEDB

Publications for EDN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

6 publications

Show 1 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.64
gnomAD pLI
0.46
gnomAD missense Z
0.17
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EDN1 as an antibody target. Whether an autoantibody or antibody against EDN1 could matter depends on whether native EDN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EDN1 is annotated as secreted, so native EDN1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EDN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EDN1. 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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