Gene: [20q13/EDN3] endothelin 3; Waardenburg-Hirschsprung disease (MIM:277580); [ET3 WS4]
GEN | Human preproendothelin 3, a 238-amino acid precursor, is encoded by a 714-nucleotide open reading frame and contains a probable leader sequence, ET3 sequences (residues 97-117), and a ET3-like sequences (residues 159-173) (Bloch-1989)." |
FUN | Endothelin-3 is a potent vasoconstrictor. ET3 was found to be expressed in human fetal lung, pancreas, and spleen (Yoshizawa-1989). The presence of ET3 mRNA in fetal human hypothalamus led Bloch et al.(1989) to speculate that ET3, like ET1, may play a role in neurotransmission." |
EVO | [1] The ET3 and ET-3
like sequences are encoded by separate exons (Inoue-1989), which presumably
arose from a common progenitor exon duplicated before multiplication of an
ancestral gene during evolution of the endothelin gene family (Bloch-1989).
[2] Shinmi-1989 classified porcine ET1 and ET3 as novel neuro- peptides in the central nervous system." |
FAG | Three endothelin isoforms, which are structurally homologous and functionally similar, are currently known - endothelins 1, 2, and 3. The genes for all of the three are mapped; see GEM:06p241/EDN1 and GEM:01p34/EDN2." |
REF | LOC,FAG "Arinami &:
AJHG, 48, N5, 990-996, 1991 PRO,COD,SEQ,LOC,MOL,FAG "Bloch KD &: JBC, 264, 10851-10857, 1989 PRO,COD,PEP,SEQ,EVO "Inoue A &: PNAS, 86, N8, 2863-2867, 1989 FUN,LOC,COD "Rao VV &: Genomics, 10, N3, 840-841, 1991 MAM "Shinmi &: BBRC, 164, 587-593, 1989 EXP,FUN "Yoshizawa &: J Cardiovasc Pharmacol, 13, (Suppl5), 216-217, 1989 |
SWI | SWISSPROT: P14138 |
KEY | card, horm |
CLA | coding, basic |
LOC | 20 q13.2-.3 |
MIM | MIM: 131242 |
SYN | ET3 WS4 |
