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

鸯铗痂蝈 蜞赕:

  • ET3 (蓓漕蝈腓-3)