Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization.
Generation of the functionally pleiotropic members of the endothelin vasoactive peptide family is critically catalyzed by unique type II metalloproteases, termed endothelin converting enzymes (ECE). Isolation of human ECE-2 (EC 3.4.24.71) cDNAs revealed deduced open reading frames of 787 and 765 amino acids with approximately 60% identity with human ECE-1. Characterization of mRNA variants revealed mRNA structural diversity at the 5'-terminus. Two mRNA species exist containing distinct first and second exons. Furthermore, in one of these species, an in-frame deletion of the intracytoplasmic domain removed 29 amino acids. Because of the previously reported human genetic diseases ascribed to germline mutations of member genes of the endothelin family, ECE2 was localized in human chromosomes with fluorescence in situ hybridization and radiation hybrid mapping to 3q28-q29 and SHGC-20171/D3S1571, respectively.
Lorenzo
M N
MN
Renal Division and Department of Medicine, St. Michael's Hospital and University of Toronto, Room 7358, Medical Sciences Building, 1 Kings College Circle, Toronto, ON, Canada M5S 1A8.
Khan
R Y
RY
Wang
Y
Y
Tai
S C
SC
Chan
G C
GC
Cheung
A H
AH
Marsden
P A
PA
D000311:Adrenal Glands / Q000378:metabolism; D000595:Amino Acid Sequence; D016282:Aspartic Acid Endopeptidases / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry / Q000302:isolation & purification; D000072396:Endothelin-Converting Enzymes; D005091:Exons; D015723:Gene Library; D006801:Humans; D008168:Lung / Q000378:metabolism; D008666:Metalloendopeptidases; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D012333:RNA, Messenger / Q000737:chemistry / Q000302:isolation & purification
D018076:DNA, Complementary; D012333:RNA, Messenger; D016282:Aspartic Acid Endopeptidases; D008666:Metalloendopeptidases; C000606923:ECE1 protein, human; C000606924:ECE2 protein, human; D000072396:Endothelin-Converting Enzymes