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Protein

Endothelin-3

Gene

EDN3

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
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
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-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
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hirschsprung disease 41 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:613712
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 syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRare 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.

See also OMIM:209880
Waardenburg syndrome 4B3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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).

See also OMIM:613265
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

BgeeiP14138.
CleanExiHS_EDN3.
ExpressionAtlasiP14138. baseline and differential.
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.
GeneTreeiENSGT00530000063310.
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

        10         20         30         40         50
MEPGLWLLFG LTVTSAAGFV PCSQSGDAGR RGVSQAPTAA RSEGDCEETV
60 70 80 90 100
AGPGEETVAG PGEGTVAPTA LQGPSPGSPG QEQAAEGAPE HHRSRRCTCF
110 120 130 140 150
TYKDKECVYY CHLDIIWINT PEQTVPYGLS NYRGSFRGKR SAGPLPGNLQ
160 170 180 190 200
LSHRPHLRCA CVGRYDKACL HFCTQTLDVS SNSRTAEKTD KEEEGKVEVK
210 220 230
DQQSKQALDL HHPKLMPGSG LALAPSTCPR CLFQEGAP
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. Curated

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:
EMBLi
GenBanki
DDBJi
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_001289384.1. NM_001302455.1.
NP_001289385.1. NM_001302456.1.
NP_996915.1. NM_207032.2. [P14138-3]
NP_996916.1. NM_207033.2. [P14138-2]
NP_996917.1. NM_207034.2. [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:
EMBLi
GenBanki
DDBJi
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_001289384.1. NM_001302455.1.
NP_001289385.1. NM_001302456.1.
NP_996915.1. NM_207032.2. [P14138-3]
NP_996916.1. NM_207033.2. [P14138-2]
NP_996917.1. NM_207034.2. [P14138-1]
UniGeneiHs.1408.

3D structure databases

ProteinModelPortaliP14138.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108230. 1 interaction.
STRINGi9606.ENSP00000337128.

Polymorphism databases

DMDMi119618.

Proteomic databases

PaxDbiP14138.
PRIDEiP14138.

Protocols and materials databases

DNASUi1908.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi1908.
GeneCardsiGC20P057875.
GeneReviewsiEDN3.
HGNCiHGNC:3178. EDN3.
HPAiHPA057987.
MIMi131242. gene.
209880. phenotype.
613265. phenotype.
613712. phenotype.
neXtProtiNX_P14138.
Orphaneti388. Hirschsprung disease.
661. Ondine syndrome.
897. Waardenburg-Shah syndrome.
PharmGKBiPA27616.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41573.
GeneTreeiENSGT00530000063310.
HOGENOMiHOG000231110.
HOVERGENiHBG051442.
InParanoidiP14138.
KOiK05227.
OMAiHHRSRRC.
OrthoDBiEOG7PCJHP.
PhylomeDBiP14138.
TreeFamiTF333184.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiEndothelin_3.
GenomeRNAii1908.
NextBioi7765.
PMAP-CutDBP14138.
PROiP14138.
SOURCEiSearch...

Gene expression databases

BgeeiP14138.
CleanExiHS_EDN3.
ExpressionAtlasiP14138. baseline and differential.
GenevestigatoriP14138.

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. "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: January 7, 2015
This is version 158 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

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.