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Protein

Endothelin-1

Gene

EDN1

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

Functioni

Endothelins are endothelium-derived vasoconstrictor peptides.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionVasoactive, Vasoconstrictor

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiP05305

Names & Taxonomyi

Protein namesi
Recommended name:
Endothelin-1
Alternative name(s):
Preproendothelin-1
Short name:
PPET1
Cleaved into the following 2 chains:
Gene namesi
Name:EDN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000078401.6
HGNCiHGNC:3176 EDN1
MIMi131240 gene
neXtProtiNX_P05305

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

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Question mark ears, isolated (QME)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus.
See also OMIM:612798
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115264V → D in QME. 1 PublicationCorresponds to variant dbSNP:rs587777233EnsemblClinVar.1
Auriculocondylar syndrome 3 (ARCND3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
See also OMIM:615706
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115377P → H in ARCND3. 1 PublicationCorresponds to variant dbSNP:rs587777232EnsemblClinVar.1
Natural variantiVAR_07115491K → E in ARCND3. 1 PublicationCorresponds to variant dbSNP:rs587777231EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1906
MalaCardsiEDN1
MIMi612798 phenotype
615706 phenotype
OpenTargetsiENSG00000078401
Orphaneti137888 Auriculocondylar syndrome
PharmGKBiPA27614

Chemistry databases

DrugBankiDB05407 TBC-3711

Polymorphism and mutation databases

BioMutaiEDN1
DMDMi119610

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 171 PublicationAdd BLAST17
PropeptideiPRO_000000805818 – 50Add BLAST33
PeptideiPRO_000000805953 – 90Big endothelin-11 PublicationAdd BLAST38
PeptideiPRO_000000806053 – 73Endothelin-11 PublicationAdd BLAST21
PropeptideiPRO_000000806174 – 212Add BLAST139

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi53 ↔ 671 Publication
Disulfide bondi55 ↔ 631 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei73 – 74Cleavage; by KEL1 Publication2

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiP05305
PeptideAtlasiP05305
PRIDEiP05305
ProteomicsDBi51829
TopDownProteomicsiP05305

PTM databases

iPTMnetiP05305
PhosphoSitePlusiP05305

Miscellaneous databases

PMAP-CutDBiP05305

Expressioni

Tissue specificityi

Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.1 Publication

Gene expression databases

BgeeiENSG00000078401 Expressed in 198 organ(s), highest expression level in upper lobe of lung
CleanExiHS_EDN1
ExpressionAtlasiP05305 baseline and differential
GenevisibleiP05305 HS

Organism-specific databases

HPAiCAB032500
CAB037291
HPA031976

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108228, 5 interactors
IntActiP05305, 5 interactors
STRINGi9606.ENSP00000368683

Structurei

Secondary structure

1212
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP05305
SMRiP05305
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP05305

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni109 – 123Endothelin-likeAdd BLAST15

Sequence similaritiesi

Belongs to the endothelin/sarafotoxin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IWVG Eukaryota
ENOG4111WED LUCA
GeneTreeiENSGT00530000063310
HOGENOMiHOG000231110
HOVERGENiHBG051441
InParanoidiP05305
KOiK16366
OMAiRCQCASQ
OrthoDBiEOG091G0LEL
PhylomeDBiP05305
TreeFamiTF333184

Family and domain databases

InterProiView protein in InterPro
IPR020475 Endothelin
IPR019764 Endothelin_toxin_CS
IPR001928 Endothln-like_toxin
PfamiView protein in Pfam
PF00322 Endothelin, 1 hit
PRINTSiPR00365 ENDOTHELIN
SMARTiView protein in SMART
SM00272 END, 2 hits
PROSITEiView protein in PROSITE
PS00270 ENDOTHELIN, 2 hits

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P05305-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDYLLMIFSL LFVACQGAPE TAVLGAELSA VGENGGEKPT PSPPWRLRRS
60 70 80 90 100
KRCSCSSLMD KECVYFCHLD IIWVNTPEHV VPYGLGSPRS KRALENLLPT
110 120 130 140 150
KATDRENRCQ CASQKDKKCW NFCQAGKELR AEDIMEKDWN NHKKGKDCSK
160 170 180 190 200
LGKKCIYQQL VRGRKIRRSS EEHLRQTRSE TMRNSVKSSF HDPKLKGKPS
210
RERYVTHNRA HW
Length:212
Mass (Da):24,425
Last modified:November 1, 1988 - v1
Checksum:iE2DA0EB86755BC3D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115264V → D in QME. 1 PublicationCorresponds to variant dbSNP:rs587777233EnsemblClinVar.1
Natural variantiVAR_07115377P → H in ARCND3. 1 PublicationCorresponds to variant dbSNP:rs587777232EnsemblClinVar.1
Natural variantiVAR_07115491K → E in ARCND3. 1 PublicationCorresponds to variant dbSNP:rs587777231EnsemblClinVar.1
Natural variantiVAR_048933186V → I. Corresponds to variant dbSNP:rs6413478Ensembl.1
Natural variantiVAR_014188198K → N Polymorphism associated with HDL cholesterol levels is some populations and in a sex-specific manner. 6 PublicationsCorresponds to variant dbSNP:rs5370EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00749 mRNA Translation: CAA68718.1
M25380
, M25377, M25378, M25379 Genomic DNA Translation: AAA52407.1
J05008 Genomic DNA Translation: AAA52339.1
S56805 mRNA Translation: AAB25760.1
AY434104 Genomic DNA Translation: AAQ96600.1
Z98050 Genomic DNA No translation available.
BC009720 mRNA Translation: AAH09720.1
M25549 Genomic DNA Translation: AAA52338.1
CCDSiCCDS4522.1
PIRiA36517 ANHU1
RefSeqiNP_001161791.1, NM_001168319.1
NP_001946.3, NM_001955.4
XP_011512632.1, XM_011514330.2
XP_011512633.1, XM_011514331.2
XP_016865820.1, XM_017010331.1
UniGeneiHs.511899
Hs.713645

Genome annotation databases

EnsembliENST00000379375; ENSP00000368683; ENSG00000078401
GeneIDi1906
KEGGihsa:1906

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

Endothelin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00749 mRNA Translation: CAA68718.1
M25380
, M25377, M25378, M25379 Genomic DNA Translation: AAA52407.1
J05008 Genomic DNA Translation: AAA52339.1
S56805 mRNA Translation: AAB25760.1
AY434104 Genomic DNA Translation: AAQ96600.1
Z98050 Genomic DNA No translation available.
BC009720 mRNA Translation: AAH09720.1
M25549 Genomic DNA Translation: AAA52338.1
CCDSiCCDS4522.1
PIRiA36517 ANHU1
RefSeqiNP_001161791.1, NM_001168319.1
NP_001946.3, NM_001955.4
XP_011512632.1, XM_011514330.2
XP_011512633.1, XM_011514331.2
XP_016865820.1, XM_017010331.1
UniGeneiHs.511899
Hs.713645

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EDNX-ray2.18A53-73[»]
1EDPNMR-A53-69[»]
1T7HX-ray1.13A/B51-68[»]
1V6RNMR-A53-73[»]
5GLHX-ray2.80B53-73[»]
ProteinModelPortaliP05305
SMRiP05305
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108228, 5 interactors
IntActiP05305, 5 interactors
STRINGi9606.ENSP00000368683

Chemistry databases

DrugBankiDB05407 TBC-3711

PTM databases

iPTMnetiP05305
PhosphoSitePlusiP05305

Polymorphism and mutation databases

BioMutaiEDN1
DMDMi119610

Proteomic databases

PaxDbiP05305
PeptideAtlasiP05305
PRIDEiP05305
ProteomicsDBi51829
TopDownProteomicsiP05305

Protocols and materials databases

DNASUi1906
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379375; ENSP00000368683; ENSG00000078401
GeneIDi1906
KEGGihsa:1906

Organism-specific databases

CTDi1906
DisGeNETi1906
EuPathDBiHostDB:ENSG00000078401.6
GeneCardsiEDN1
H-InvDBiHIX0033211
HGNCiHGNC:3176 EDN1
HPAiCAB032500
CAB037291
HPA031976
MalaCardsiEDN1
MIMi131240 gene
612798 phenotype
615706 phenotype
neXtProtiNX_P05305
OpenTargetsiENSG00000078401
Orphaneti137888 Auriculocondylar syndrome
PharmGKBiPA27614
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWVG Eukaryota
ENOG4111WED LUCA
GeneTreeiENSGT00530000063310
HOGENOMiHOG000231110
HOVERGENiHBG051441
InParanoidiP05305
KOiK16366
OMAiRCQCASQ
OrthoDBiEOG091G0LEL
PhylomeDBiP05305
TreeFamiTF333184

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SIGNORiP05305

Miscellaneous databases

EvolutionaryTraceiP05305
GeneWikiiEndothelin_1
GenomeRNAii1906
PMAP-CutDBiP05305
PROiPR:P05305
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078401 Expressed in 198 organ(s), highest expression level in upper lobe of lung
CleanExiHS_EDN1
ExpressionAtlasiP05305 baseline and differential
GenevisibleiP05305 HS

Family and domain databases

InterProiView protein in InterPro
IPR020475 Endothelin
IPR019764 Endothelin_toxin_CS
IPR001928 Endothln-like_toxin
PfamiView protein in Pfam
PF00322 Endothelin, 1 hit
PRINTSiPR00365 ENDOTHELIN
SMARTiView protein in SMART
SM00272 END, 2 hits
PROSITEiView protein in PROSITE
PS00270 ENDOTHELIN, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiEDN1_HUMAN
AccessioniPrimary (citable) accession number: P05305
Secondary accession number(s): Q96DA1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1988
Last sequence update: November 1, 1988
Last modified: November 7, 2018
This is version 198 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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