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P14138

- EDN3_HUMAN

UniProt

P14138 - EDN3_HUMAN

Protein

Endothelin-3

Gene

EDN3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 1 (01 Jan 1990)
      Previous versions | rss
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    Functioni

    Endothelins are endothelium-derived vasoconstrictor peptides.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei117 – 1182Cleavage; by KEL

    GO - Molecular functioni

    1. hormone activity Source: BHF-UCL
    2. receptor binding Source: ProtInc

    GO - Biological processi

    1. blood circulation Source: ProtInc
    2. cell-cell signaling Source: ProtInc
    3. cell surface receptor signaling pathway Source: BHF-UCL
    4. inositol phosphate-mediated signaling Source: BHF-UCL
    5. melanocyte differentiation Source: Ensembl
    6. multicellular organismal development Source: ProtInc
    7. neural crest cell migration Source: Ensembl
    8. neuron differentiation Source: Ensembl
    9. neutrophil chemotaxis Source: BHF-UCL
    10. peptide hormone secretion Source: BHF-UCL
    11. positive regulation of cell proliferation Source: Ensembl
    12. positive regulation of heart rate Source: BHF-UCL
    13. positive regulation of hormone secretion Source: BHF-UCL
    14. positive regulation of leukocyte chemotaxis Source: BHF-UCL
    15. positive regulation of MAP kinase activity Source: BHF-UCL
    16. positive regulation of mitosis Source: BHF-UCL
    17. regulation of developmental pigmentation Source: Ensembl
    18. regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
    19. regulation of vasoconstriction Source: InterPro
    20. signal transduction Source: ProtInc
    21. vasoconstriction Source: BHF-UCL
    22. vein smooth muscle contraction Source: BHF-UCL

    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-3
    Short name:
    ET-3
    Alternative name(s):
    Preproendothelin-3
    Short name:
    PPET3
    Gene namesi
    Name:EDN3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:3178. EDN3.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. extracellular space Source: BHF-UCL

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hirschsprung disease 4 (HSCR4) [MIM:613712]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171A → T in HSCR4. 2 Publications
    Corresponds to variant rs11570255 [ dbSNP | Ensembl ].
    VAR_009078
    Natural varianti224 – 2241A → T in HSCR4. 1 Publication
    Corresponds to variant rs11570351 [ dbSNP | Ensembl ].
    VAR_009079
    Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Waardenburg syndrome 4B (WS4B) [MIM:613265]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti127 – 1271Y → C in WS4B. 1 Publication
    VAR_015238
    Natural varianti159 – 1591C → F in WS4B. 1 Publication
    VAR_002353

    Keywords - Diseasei

    Deafness, Disease mutation, Hirschsprung disease, Waardenburg syndrome

    Organism-specific databases

    MIMi209880. phenotype.
    613265. phenotype.
    613712. phenotype.
    Orphaneti388. Hirschsprung disease.
    661. Ondine syndrome.
    897. Waardenburg-Shah syndrome.
    PharmGKBiPA27616.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Propeptidei17 – 9478PRO_0000008111Add
    BLAST
    Peptidei97 – 11721Endothelin-3PRO_0000008112Add
    BLAST
    Propeptidei118 – 238121PRO_0000008113Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi97 ↔ 111
    Disulfide bondi99 ↔ 107

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond

    Proteomic databases

    PaxDbiP14138.
    PRIDEiP14138.

    Miscellaneous databases

    PMAP-CutDBP14138.

    Expressioni

    Tissue specificityi

    Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells.1 Publication

    Gene expression databases

    ArrayExpressiP14138.
    BgeeiP14138.
    CleanExiHS_EDN3.
    GenevestigatoriP14138.

    Organism-specific databases

    HPAiHPA057987.

    Interactioni

    Protein-protein interaction databases

    BioGridi108230. 1 interaction.
    STRINGi9606.ENSP00000337128.

    Structurei

    3D structure databases

    ProteinModelPortaliP14138.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni159 – 17315Endothelin-likeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the endothelin/sarafotoxin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG41573.
    HOGENOMiHOG000231110.
    HOVERGENiHBG051442.
    InParanoidiP14138.
    KOiK05227.
    OMAiHHRSRRC.
    OrthoDBiEOG7PCJHP.
    PhylomeDBiP14138.
    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]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: P14138-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEPGLWLLFG LTVTSAAGFV PCSQSGDAGR RGVSQAPTAA RSEGDCEETV    50
    AGPGEETVAG PGEGTVAPTA LQGPSPGSPG QEQAAEGAPE HHRSRRCTCF 100
    TYKDKECVYY CHLDIIWINT PEQTVPYGLS NYRGSFRGKR SAGPLPGNLQ 150
    LSHRPHLRCA CVGRYDKACL HFCTQTLDVS SNSRTAEKTD KEEEGKVEVK 200
    DQQSKQALDL HHPKLMPGSG LALAPSTCPR CLFQEGAP 238
    Length:238
    Mass (Da):25,454
    Last modified:January 1, 1990 - v1
    Checksum:i7D7E90BC7DE37273
    GO
    Isoform Short (identifier: P14138-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         181-196: SNSRTAEKTDKEEEGK → RQ

    Show »
    Length:224
    Mass (Da):23,948
    Checksum:i9A2295791A408FF3
    GO
    Isoform 3 (identifier: P14138-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         198-238: EVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP → RGANRGLCQRRLKSRTNKASRL

    Show »
    Length:219
    Mass (Da):23,596
    Checksum:iD3CF0513D34705AC
    GO

    Sequence cautioni

    The sequence AAR16083.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171A → T in HSCR4. 2 Publications
    Corresponds to variant rs11570255 [ dbSNP | Ensembl ].
    VAR_009078
    Natural varianti127 – 1271Y → C in WS4B. 1 Publication
    VAR_015238
    Natural varianti159 – 1591C → F in WS4B. 1 Publication
    VAR_002353
    Natural varianti224 – 2241A → T in HSCR4. 1 Publication
    Corresponds to variant rs11570351 [ dbSNP | Ensembl ].
    VAR_009079

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei181 – 19616SNSRT…EEEGK → RQ in isoform Short. 1 PublicationVSP_001445Add
    BLAST
    Alternative sequencei198 – 23841EVKDQ…QEGAP → RGANRGLCQRRLKSRTNKAS RL in isoform 3. 1 PublicationVSP_043139Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J05081 mRNA. Translation: AAA52405.1.
    X52001 mRNA. Translation: CAA36252.1.
    BT007085 mRNA. Translation: AAP35748.1.
    AY444503 Genomic DNA. Translation: AAR16083.1. Sequence problems.
    AL035250 Genomic DNA. Translation: CAB65996.1.
    AL035250 Genomic DNA. Translation: CAB65997.2.
    AL035250 Genomic DNA. Translation: CAB65998.1.
    CH471077 Genomic DNA. Translation: EAW75434.1.
    CH471077 Genomic DNA. Translation: EAW75435.1.
    CH471077 Genomic DNA. Translation: EAW75437.1.
    BC008876 mRNA. Translation: AAH08876.1.
    BC053866 mRNA. Translation: AAH53866.1.
    CCDSiCCDS13477.1. [P14138-1]
    CCDS13478.1. [P14138-2]
    CCDS13479.1. [P14138-3]
    PIRiA34378.
    RefSeqiNP_000105.1. NM_000114.2. [P14138-1]
    NP_996915.1. NM_207032.1. [P14138-3]
    NP_996916.1. NM_207033.1. [P14138-2]
    NP_996917.1. NM_207034.1. [P14138-1]
    UniGeneiHs.1408.

    Genome annotation databases

    EnsembliENST00000311585; ENSP00000311854; ENSG00000124205. [P14138-3]
    ENST00000337938; ENSP00000337128; ENSG00000124205. [P14138-1]
    ENST00000371028; ENSP00000360067; ENSG00000124205. [P14138-1]
    ENST00000395654; ENSP00000379015; ENSG00000124205. [P14138-2]
    GeneIDi1908.
    KEGGihsa:1908.
    UCSCiuc002yap.3. human. [P14138-1]
    uc002yar.3. human. [P14138-3]
    uc002yas.3. human. [P14138-2]

    Polymorphism databases

    DMDMi119618.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J05081 mRNA. Translation: AAA52405.1 .
    X52001 mRNA. Translation: CAA36252.1 .
    BT007085 mRNA. Translation: AAP35748.1 .
    AY444503 Genomic DNA. Translation: AAR16083.1 . Sequence problems.
    AL035250 Genomic DNA. Translation: CAB65996.1 .
    AL035250 Genomic DNA. Translation: CAB65997.2 .
    AL035250 Genomic DNA. Translation: CAB65998.1 .
    CH471077 Genomic DNA. Translation: EAW75434.1 .
    CH471077 Genomic DNA. Translation: EAW75435.1 .
    CH471077 Genomic DNA. Translation: EAW75437.1 .
    BC008876 mRNA. Translation: AAH08876.1 .
    BC053866 mRNA. Translation: AAH53866.1 .
    CCDSi CCDS13477.1. [P14138-1 ]
    CCDS13478.1. [P14138-2 ]
    CCDS13479.1. [P14138-3 ]
    PIRi A34378.
    RefSeqi NP_000105.1. NM_000114.2. [P14138-1 ]
    NP_996915.1. NM_207032.1. [P14138-3 ]
    NP_996916.1. NM_207033.1. [P14138-2 ]
    NP_996917.1. NM_207034.1. [P14138-1 ]
    UniGenei Hs.1408.

    3D structure databases

    ProteinModelPortali P14138.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108230. 1 interaction.
    STRINGi 9606.ENSP00000337128.

    Polymorphism databases

    DMDMi 119618.

    Proteomic databases

    PaxDbi P14138.
    PRIDEi P14138.

    Protocols and materials databases

    DNASUi 1908.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311585 ; ENSP00000311854 ; ENSG00000124205 . [P14138-3 ]
    ENST00000337938 ; ENSP00000337128 ; ENSG00000124205 . [P14138-1 ]
    ENST00000371028 ; ENSP00000360067 ; ENSG00000124205 . [P14138-1 ]
    ENST00000395654 ; ENSP00000379015 ; ENSG00000124205 . [P14138-2 ]
    GeneIDi 1908.
    KEGGi hsa:1908.
    UCSCi uc002yap.3. human. [P14138-1 ]
    uc002yar.3. human. [P14138-3 ]
    uc002yas.3. human. [P14138-2 ]

    Organism-specific databases

    CTDi 1908.
    GeneCardsi GC20P057875.
    GeneReviewsi EDN3.
    HGNCi HGNC:3178. EDN3.
    HPAi HPA057987.
    MIMi 131242. gene.
    209880. phenotype.
    613265. phenotype.
    613712. phenotype.
    neXtProti NX_P14138.
    Orphaneti 388. Hirschsprung disease.
    661. Ondine syndrome.
    897. Waardenburg-Shah syndrome.
    PharmGKBi PA27616.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41573.
    HOGENOMi HOG000231110.
    HOVERGENi HBG051442.
    InParanoidi P14138.
    KOi K05227.
    OMAi HHRSRRC.
    OrthoDBi EOG7PCJHP.
    PhylomeDBi P14138.
    TreeFami TF333184.

    Enzyme and pathway databases

    Reactomei REACT_14819. Peptide ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.

    Miscellaneous databases

    GeneWikii Endothelin_3.
    GenomeRNAii 1908.
    NextBioi 7765.
    PMAP-CutDB P14138.
    PROi P14138.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14138.
    Bgeei P14138.
    CleanExi HS_EDN3.
    Genevestigatori P14138.

    Family and domain databases

    InterProi IPR020475. Bibrotoxin/Sarafotoxin-D.
    IPR019764. Endothelin_toxin_CS.
    IPR001928. Endothln-like_toxin.
    [Graphical view ]
    Pfami PF00322. Endothelin. 1 hit.
    [Graphical view ]
    PRINTSi PR00365. ENDOTHELIN.
    SMARTi SM00272. END. 2 hits.
    [Graphical view ]
    PROSITEi PS00270. ENDOTHELIN. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning and chromosomal assignment of the gene encoding endothelin 3."
      Bloch K.D., Eddy R.L., Shows T.B., Quertermous T.
      J. Biol. Chem. 264:18156-18161(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "One of the endothelin gene family, endothelin 3 gene, is expressed in the placenta."
      Onda H., Ohkubo S., Ogi K., Kosaka T., Kimura C., Matsumoto H., Suzuki N., Fujino M.
      FEBS Lett. 261:327-330(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
      Tissue: Placenta.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
    4. NIEHS SNPs program
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-17.
    5. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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] (ISOFORMS LONG AND 3).
      Tissue: Lung and Muscle.
    8. "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.
    9. "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.
    10. "Solution structure of endothelin-3 determined using NMR spectroscopy."
      Mills R.G., O'Donoghue S.I., Smith R., King G.F.
      Biochemistry 31:5640-5645(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF ET-3.
    11. "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
      Hofstra R.M.W., Osinga J., Buys C.H.C.M.
      Eur. J. Hum. Genet. 5:180-185(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    12. "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)."
      Hofstra R.M.W., Tan-Sindhunata G., Wu Y., Kamsteeg E.-J., Stulp R.P., van Ravenswaaij-Arts C., Majoor-Krakauer D., Angrist M., Chakravarti A., Meijers C., Buys C.H.C.M.
      Nat. Genet. 12:445-447(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS4B PHE-159.
    13. "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome."
      Bolk S., Angrist M., Xie J., Yanagisawa M., Silvestri J.M., Weese-Mayer D.E., Chakravarti A.
      Nat. Genet. 13:395-396(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CCHS.
    14. "Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease."
      Bidaud C., Salomon R., Van Camp G., Pelet A., Attie T., Eng C., Bonduelle M., Amiel J., Nihoul-Fekete C., Willems P.J., Munnich A., Lyonnet S.
      Eur. J. Hum. Genet. 5:247-251(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HSCR4 THR-17 AND THR-224.
    15. "A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?"
      Pingault V., Bondurand N., Lemort N., Sancandi M., Ceccherini I., Hugot J.P., Jouk P.S., Goossens M.
      J. Med. Genet. 38:205-209(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN WS4B.
    16. "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism."
      Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L., Mowat D., Shimotake T., Verma I., Baumann C., Goossens M.
      Hum. Genet. 111:198-206(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS4B CYS-127.

    Entry informationi

    Entry nameiEDN3_HUMAN
    AccessioniPrimary (citable) accession number: P14138
    Secondary accession number(s): E1P5I5
    , Q03229, Q7Z6D2, Q9UGT7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: January 1, 1990
    Last modified: October 1, 2014
    This is version 156 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

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