InnateDB Protein
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IDBP-83424.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EDN3
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Protein Name
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endothelin 3
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Synonyms
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ET-3; ET3; HSCR4; PPET3; WS4B;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000337128
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InnateDB Gene
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IDBG-83422 (EDN3)
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Protein Structure
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Function |
Endothelins are endothelium-derived vasoconstrictor peptides.
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Subcellular Localization |
Secreted.
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Disease Associations |
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. {ECO:0000269PubMed:9359047}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:8696331}. 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). {ECO:0000269PubMed:11303518, ECO:0000269PubMed:12189494, ECO:0000269PubMed:8630503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. {ECO:0000269PubMed:9284755}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001928
Endothelin-like toxin
IPR020475
Bibrotoxin/Sarafotoxin-D
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PFAM |
PF00322
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PRINTS |
PR00365
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PIRSF |
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SMART |
SM00272
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TIGRFAMs |
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Modification |
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SwissProt |
P14138
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q6LDQ8
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UniProt Splice Variant |
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Entrez Gene |
1908
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UniGene |
Hs.616845
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RefSeq |
NP_996917
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HUGO |
HGNC:3178
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OMIM |
131242
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CCDS |
CCDS13477
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HPRD |
00570
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IMGT |
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EMBL |
AL035250
AY444503
BC008876
BC053866
BT007085
CH471077
J05081
M25551
X52001
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GenPept |
AAA52341
AAA52405
AAH08876
AAH53866
AAP35748
AAR16083
CAA36252
CAB65996
CAB65997
CAB65998
EAW75434
EAW75435
EAW75437
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