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Protein

Endothelin-1

Gene

EDN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Endothelins are endothelium-derived vasoconstrictor peptides.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei73 – 742Cleavage; by KEL

GO - Molecular functioni

  1. cytokine activity Source: BHF-UCL
  2. endothelin A receptor binding Source: BHF-UCL
  3. endothelin B receptor binding Source: BHF-UCL
  4. hormone activity Source: BHF-UCL

GO - Biological processi

  1. artery smooth muscle contraction Source: BHF-UCL
  2. body fluid secretion Source: Ensembl
  3. calcium-mediated signaling Source: BHF-UCL
  4. cartilage development Source: Ensembl
  5. cell-cell signaling Source: BHF-UCL
  6. cell growth Source: Ensembl
  7. cell surface receptor signaling pathway Source: BHF-UCL
  8. cellular response to calcium ion Source: Ensembl
  9. cellular response to drug Source: Ensembl
  10. cellular response to fatty acid Source: Ensembl
  11. cellular response to glucocorticoid stimulus Source: Ensembl
  12. cellular response to hypoxia Source: Ensembl
  13. cellular response to interferon-gamma Source: Ensembl
  14. cellular response to interleukin-1 Source: Ensembl
  15. cellular response to mineralocorticoid stimulus Source: Ensembl
  16. cellular response to peptide hormone stimulus Source: Ensembl
  17. cellular response to transforming growth factor beta stimulus Source: Ensembl
  18. cellular response to tumor necrosis factor Source: Ensembl
  19. dorsal/ventral pattern formation Source: Ensembl
  20. epithelial fluid transport Source: Ensembl
  21. glucose transport Source: Ensembl
  22. G-protein coupled receptor signaling pathway Source: BHF-UCL
  23. heart development Source: Ensembl
  24. histamine secretion Source: Ensembl
  25. inositol phosphate-mediated signaling Source: BHF-UCL
  26. in utero embryonic development Source: Ensembl
  27. leukocyte activation Source: BHF-UCL
  28. maternal process involved in parturition Source: Ensembl
  29. membrane depolarization Source: Ensembl
  30. middle ear morphogenesis Source: Ensembl
  31. multicellular organismal aging Source: Ensembl
  32. negative regulation of blood coagulation Source: BHF-UCL
  33. negative regulation of cAMP biosynthetic process Source: Ensembl
  34. negative regulation of cellular protein metabolic process Source: BHF-UCL
  35. negative regulation of hormone secretion Source: Ensembl
  36. negative regulation of nitric-oxide synthase biosynthetic process Source: BHF-UCL
  37. negative regulation of smooth muscle cell apoptotic process Source: Ensembl
  38. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  39. neural crest cell development Source: Ensembl
  40. nitric oxide transport Source: BHF-UCL
  41. patterning of blood vessels Source: Ensembl
  42. peptide hormone secretion Source: BHF-UCL
  43. phosphatidylinositol 3-kinase signaling Source: BHF-UCL
  44. phospholipase D-activating G-protein coupled receptor signaling pathway Source: Ensembl
  45. positive regulation of cardiac muscle hypertrophy Source: BHF-UCL
  46. positive regulation of cell migration Source: BHF-UCL
  47. positive regulation of cell proliferation Source: BHF-UCL
  48. positive regulation of cell size Source: BHF-UCL
  49. positive regulation of chemokine-mediated signaling pathway Source: BHF-UCL
  50. positive regulation of cytosolic calcium ion concentration Source: BHF-UCL
  51. positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway Source: Ensembl
  52. positive regulation of endothelial cell migration Source: BHF-UCL
  53. positive regulation of heart rate Source: BHF-UCL
  54. positive regulation of hormone secretion Source: BHF-UCL
  55. positive regulation of JUN kinase activity Source: BHF-UCL
  56. positive regulation of MAP kinase activity Source: BHF-UCL
  57. positive regulation of mitosis Source: BHF-UCL
  58. positive regulation of neutrophil chemotaxis Source: Ensembl
  59. positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
  60. positive regulation of odontogenesis Source: Ensembl
  61. positive regulation of prostaglandin-endoperoxide synthase activity Source: BHF-UCL
  62. positive regulation of prostaglandin secretion Source: Ensembl
  63. positive regulation of receptor biosynthetic process Source: BHF-UCL
  64. positive regulation of renal sodium excretion Source: Ensembl
  65. positive regulation of sarcomere organization Source: BHF-UCL
  66. positive regulation of smooth muscle cell proliferation Source: BHF-UCL
  67. positive regulation of smooth muscle contraction Source: Ensembl
  68. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  69. positive regulation of urine volume Source: Ensembl
  70. prostaglandin biosynthetic process Source: BHF-UCL
  71. protein kinase C-activating G-protein coupled receptor signaling pathway Source: Ensembl
  72. protein kinase C deactivation Source: BHF-UCL
  73. regulation of pH Source: Ensembl
  74. regulation of sensory perception of pain Source: Ensembl
  75. regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
  76. regulation of vasoconstriction Source: InterPro
  77. respiratory gaseous exchange Source: Ensembl
  78. response to activity Source: Ensembl
  79. response to amino acid Source: Ensembl
  80. response to dexamethasone Source: Ensembl
  81. response to leptin Source: Ensembl
  82. response to lipopolysaccharide Source: Ensembl
  83. response to muscle stretch Source: Ensembl
  84. response to nicotine Source: Ensembl
  85. response to ozone Source: Ensembl
  86. response to prostaglandin F Source: Ensembl
  87. response to salt Source: Ensembl
  88. response to testosterone Source: Ensembl
  89. rhythmic excitation Source: Ensembl
  90. sensory perception of pain Source: Ensembl
  91. superoxide anion generation Source: Ensembl
  92. vasoconstriction Source: BHF-UCL
  93. vein smooth muscle contraction Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Vasoactive, Vasoconstrictor

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:3176. EDN1.

Subcellular locationi

GO - Cellular componenti

  1. basal part of cell Source: Ensembl
  2. cytoplasm Source: BHF-UCL
  3. extracellular region Source: Reactome
  4. extracellular space Source: BHF-UCL
  5. rough endoplasmic reticulum lumen Source: Ensembl
  6. Weibel-Palade body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Question mark ears, isolated1 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641V → D in QME. 1 Publication
VAR_071152
Auriculocondylar syndrome 31 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771P → H in ARCND3. 1 Publication
VAR_071153
Natural varianti91 – 911K → E in ARCND3. 1 Publication
VAR_071154

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612798. phenotype.
615706. phenotype.
Orphaneti137888. Auriculocondylar syndrome.
PharmGKBiPA27614.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1717Add
BLAST
Propeptidei18 – 5033PRO_0000008058Add
BLAST
Peptidei53 – 9038Big endothelin-1PRO_0000008059Add
BLAST
Peptidei53 – 7321Endothelin-1PRO_0000008060Add
BLAST
Propeptidei74 – 212139PRO_0000008061Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi53 ↔ 671 Publication
Disulfide bondi55 ↔ 631 Publication
Disulfide bondi109 ↔ 123By similarity
Disulfide bondi111 ↔ 119By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiP05305.
PRIDEiP05305.

PTM databases

PhosphoSiteiP05305.

Miscellaneous databases

PMAP-CutDBP05305.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP05305.
CleanExiHS_EDN1.
ExpressionAtlasiP05305. baseline and differential.
GenevestigatoriP05305.

Organism-specific databases

HPAiCAB032500.
CAB037291.
HPA031976.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
EDNRAP251012EBI-715181,EBI-6624559
EDNRBP245302EBI-715181,EBI-6624656

Protein-protein interaction databases

BioGridi108228. 5 interactions.
IntActiP05305. 5 interactions.
MINTiMINT-1387120.
STRINGi9606.ENSP00000368683.

Structurei

Secondary structure

1
212
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi53 – 564Combined sources
Beta strandi57 – 593Combined sources
Helixi61 – 677Combined sources
Turni68 – 703Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP05305.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni109 – 12315Endothelin-likeAdd
BLAST

Sequence similaritiesi

Belongs to the endothelin/sarafotoxin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG46593.
HOGENOMiHOG000231110.
HOVERGENiHBG051441.
InParanoidiP05305.
KOiK16366.
OMAiRCQCASQ.
OrthoDBiEOG7PS1H7.
PhylomeDBiP05305.
TreeFamiTF333184.

Family and domain databases

InterProiIPR020475. Bibrotoxin/Sarafotoxin-D.
IPR019764. Endothelin_toxin_CS.
IPR001928. Endothln-like_toxin.
[Graphical view]
PfamiPF00322. Endothelin. 1 hit.
[Graphical view]
PRINTSiPR00365. ENDOTHELIN.
SMARTiSM00272. END. 2 hits.
[Graphical view]
PROSITEiPS00270. ENDOTHELIN. 2 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641V → D in QME. 1 Publication
VAR_071152
Natural varianti77 – 771P → H in ARCND3. 1 Publication
VAR_071153
Natural varianti91 – 911K → E in ARCND3. 1 Publication
VAR_071154
Natural varianti186 – 1861V → I.
Corresponds to variant rs6413478 [ dbSNP | Ensembl ].
VAR_048933
Natural varianti198 – 1981K → N Polymorphism associated with HDL cholesterol levels is some populations and in a sex-specific manner. 6 Publications
Corresponds to variant rs5370 [ dbSNP | Ensembl ].
VAR_014188

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. Translation: CAB10846.1.
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.
UniGeneiHs.511899.
Hs.713645.

Genome annotation databases

EnsembliENST00000379375; ENSP00000368683; ENSG00000078401.
GeneIDi1906.
KEGGihsa:1906.
UCSCiuc003nad.3. human.

Polymorphism databases

DMDMi119610.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs
R&D Systems' cytokine source book: Endothelin-1
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. Translation: CAB10846.1.
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.
UniGeneiHs.511899.
Hs.713645.

3D structure databases

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

Protein-protein interaction databases

BioGridi108228. 5 interactions.
IntActiP05305. 5 interactions.
MINTiMINT-1387120.
STRINGi9606.ENSP00000368683.

PTM databases

PhosphoSiteiP05305.

Polymorphism databases

DMDMi119610.

Proteomic databases

PaxDbiP05305.
PRIDEiP05305.

Protocols and materials databases

DNASUi1906.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379375; ENSP00000368683; ENSG00000078401.
GeneIDi1906.
KEGGihsa:1906.
UCSCiuc003nad.3. human.

Organism-specific databases

CTDi1906.
GeneCardsiGC06P012290.
H-InvDBHIX0033211.
HGNCiHGNC:3176. EDN1.
HPAiCAB032500.
CAB037291.
HPA031976.
MIMi131240. gene.
612798. phenotype.
615706. phenotype.
neXtProtiNX_P05305.
Orphaneti137888. Auriculocondylar syndrome.
PharmGKBiPA27614.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG46593.
HOGENOMiHOG000231110.
HOVERGENiHBG051441.
InParanoidiP05305.
KOiK16366.
OMAiRCQCASQ.
OrthoDBiEOG7PS1H7.
PhylomeDBiP05305.
TreeFamiTF333184.

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Miscellaneous databases

EvolutionaryTraceiP05305.
GeneWikiiEndothelin_1.
GenomeRNAii1906.
NextBioi7757.
PMAP-CutDBP05305.
PROiP05305.
SOURCEiSearch...

Gene expression databases

BgeeiP05305.
CleanExiHS_EDN1.
ExpressionAtlasiP05305. baseline and differential.
GenevestigatoriP05305.

Family and domain databases

InterProiIPR020475. Bibrotoxin/Sarafotoxin-D.
IPR019764. Endothelin_toxin_CS.
IPR001928. Endothln-like_toxin.
[Graphical view]
PfamiPF00322. Endothelin. 1 hit.
[Graphical view]
PRINTSiPR00365. ENDOTHELIN.
SMARTiSM00272. END. 2 hits.
[Graphical view]
PROSITEiPS00270. ENDOTHELIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and sequence analysis of cDNA encoding the precursor of a human endothelium-derived vasoconstrictor peptide, endothelin: identity of human and porcine endothelin."
    Itoh Y., Yanagisawa M., Ohkubo S., Kimura C., Kosaka T., Inoue A., Ishida N., Mitsui Y., Onda H., Fujino M., Masaki T.
    FEBS Lett. 231:440-444(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Placenta.
  2. "The human preproendothelin-1 gene. Complete nucleotide sequence and regulation of expression."
    Inoue A., Yanagisawa M., Takuwa Y., Mitsui Y., Kobayashi M., Masaki T.
    J. Biol. Chem. 264:14954-14959(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Structural organization and chromosomal assignment of the gene encoding endothelin."
    Bloch K.D., Friedrich S.P., Lee M.E., Eddy R.L., Shows T.B., Quertermous T.
    J. Biol. Chem. 264:10851-10857(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Two preproendothelin 1 mRNAs transcribed by alternative promoters."
    Benatti L., Bonecchi L., Cozzi L., Sarmientos P.
    J. Clin. Invest. 91:1149-1156(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. NIEHS SNPs program
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-198.
  6. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-198.
    Tissue: Pancreas.
  8. "The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes."
    Inoue A., Yanagisawa M., Kimura S., Kasuya Y., Miyauchi T., Goto K., Masaki T.
    Proc. Natl. Acad. Sci. U.S.A. 86:2863-2867(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 27-67.
  9. "Proteolytic processing of big endothelin-3 by the kell blood group protein."
    Lee S., Lin M., Mele A., Cao Y., Farmar J., Russo D., Redman C.
    Blood 94:1440-1450(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, CLEAVAGE BY KELL, IDENTIFICATION BY MASS SPECTROMETRY.
  10. Cited for: PROTEOLYTIC PROCESSING.
  11. "Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3."
    Bourgeois C., Robert B., Rebourcet R., Mondon F., Mignot T.-M., Duc-Goiran P., Ferre F.
    J. Clin. Endocrinol. Metab. 82:3116-3123(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  12. "Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol."
    Pare G., Serre D., Brisson D., Anand S.S., Montpetit A., Tremblay G., Engert J.C., Hudson T.J., Gaudet D.
    Am. J. Hum. Genet. 80:673-682(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-198, CHARACTERIZATION OF VARIANT ASN-198.
  13. "Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease."
    Wiltshire S., Powell B.L., Jennens M., McCaskie P.A., Carter K.W., Palmer L.J., Thompson P.L., McQuillan B.M., Hung J., Beilby J.P.
    Hum. Genet. 123:307-313(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-198.
  14. "Crystallization and preliminary X-ray analysis of human endothelin."
    Wolff M., Day J., Greenwood A., Larson S., McPherson A.
    Acta Crystallogr. B 48:239-240(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF ET-1.
  15. Cited for: X-RAY CRYSTALLOGRAPHY (2.18 ANGSTROMS) OF ET-1, DISULFIDE BONDS.
  16. "The conformation of endothelin-1 in aqueous solution: NMR-derived constraints combined with distance geometry and molecular dynamics calculations."
    Reily M.D., Dunbar J.B. Jr.
    Biochem. Biophys. Res. Commun. 178:570-577(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF ET-1.
  17. "Conformational isomerism of endothelin in acidic aqueous media: a quantitative NOESY analysis."
    Andersen N.H., Chen C., Marschner T.M., Krystek S.R. Jr., Bassolino D.A.
    Biochemistry 31:1280-1295(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF ET-1.
  18. "Solution conformation of human big endothelin-1."
    Donlan M.L., Brown F.K., Jeffs P.W.
    J. Biomol. NMR 2:407-420(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 53-90.
  19. "A comparison of X-ray and NMR structures for human endothelin-1."
    Wallace B.A., Janes R.W., Bassolino D.A., Krystek S.R. Jr.
    Protein Sci. 4:75-83(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: COMPARISON OF NMR STRUCTURE WITH X-RAY STRUCTURE.
  20. "Solution structure of a novel ETB receptor selective agonist ET1-21 [Cys(Acm)1,15, Aib3,11, Leu7] by nuclear magnetic resonance spectroscopy and molecular modelling."
    Hewage C.M., Jiang L., Parkinson J.A., Ramage R., Sadler I.H.
    J. Pept. Res. 53:223-233(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF ET1 AGONIST.
  21. "The Lys198Asn polymorphism in the endothelin-1 gene is associated with blood pressure in overweight people."
    Tiret L., Poirier O., Hallet V., McDonagh T.A., Morrison C., McMurray J.J., Dargie H.J., Arveiler D., Ruidavets J.B., Luc G., Evans A., Cambien F.
    Hypertension 33:1169-1174(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-198.
  22. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
    Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
    Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-198.
  23. Cited for: VARIANT QME ASP-64, VARIANTS ARCND3 HIS-77 AND GLU-91.

Entry informationi

Entry nameiEDN1_HUMAN
AccessioniPrimary (citable) accession number: P05305
Secondary accession number(s): Q96DA1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1988
Last sequence update: November 1, 1988
Last modified: January 7, 2015
This is version 167 of the entry and version 1 of the sequence. [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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.