2qH4. View the map and BAC clones (data from UCSC genome browser).
Edn3(NM_007903): 5 exons, 23,270 bp, chr2:174403712-174426981.
The figure below shows the structure of the Edn3 gene (data from UCSC genome browser).
Search the 5'UTR and 1kb upstream regions (seq1=mouse Edn3, seq2=human EDN3) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).
|Protein||NP_996915 (219 aa)||XP_525373 (219 aa)||NP_001002942 (198 aa)||NP_001071118 (167 aa)|
|Identities||137/226 (60%)||137/226 (60%)||114/183 (62%)||140/214 (65%)|
(1) Domains predicted by SMART:
a) signal peptide: 1-16
b) END: 96-117
c) END: 158-179
d) low complexity: 185-196
(2) Transmembrane domains predicted by SOSUI:
This amino acid sequence is of a SOLUBLE PROTEIN.
(3) Graphic view of InterPro domain structure.
(1) Predicted results by ScanProsite:
a)cAMP- and cGMP-dependent protein kinase phosphorylation site:
Site : 95 to 98 RRCT.
b) Protein kinase C phosphorylation site:
Site : 28 to 30 SGR.
Site : 42 to 44 SER.
Site : 80 to 82 SGK.
Site : 101 to 103 TYK.
Site : 135 to 137 SLR.
Site : 183 to 185 SGR.
Site : 208 to 210 TDK.
c) Casein kinase II phosphorylation site:
Site : 101 to 104 TYKD.
Site : 206 to 209 SRTD.
d) Tyrosine kinase phosphorylation site:
Site : 103 to 109 KDKECVY.
Site : 103 to 110 KDKECVYY.
Site : 175 to 182 RTRDVTSY.
e) N-myristoylation site:
Site : 10 to 15 GLTVTS.
Site : 41 to 46 GSERGC.
Site : 45 to 50 GCEETV.
f) Amidation site:
Site : 137 to 140 RGKR.
g) Endothelin family signature:
Site : 97 to 111 CTCFTYKDKECVYYC.
Site : 159 to 173 CTCMGADDKACAHFC.
(2) Predicted results of subprograms by PSORT II:
a) N-terminal signal peptide: none
b) Tentative number of TMS(s) for the threshold 0.5: 1
c) KDEL ER retention motif in C-terminus: none
d) ER membrane retention signals: KAHR
e) VAC possible vacuolar targeting motif: none
f) Actinin-type actin-binding motif: type 1: none; type 2: none
g) Prenylation motif: none
h) memYQRL transport motif from cell surface to Golgi: none
i) Tyrosines in the tail: none
j) Dileucine motif in the tail: none
ModBase predicted 3D structure of P48299 from UCSC Gene Sorter:
From left to right: Front, Top, and Side views of predicted protein.
This protein does not exist in the current release of SWISS-2DPAGE.
Computed theoretical MW=23,322.2Da, pI=8.54.
(1) Biological process: melanocyte differentiation, neural crest cell migration, cell-cell signaling, signal transduction, smooth muscle contraction, sensory perception of sound.
(2) Hormone secretion.
(3) Receptor binding.
(4) Inositol phosphate-mediated signaling.
(5) Regulation of vasoconstriction.
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons.
View interactions in HPRD
View co-occured partners in literature searched by PPI Finder.
SNPs deposited in dbSNP Build 128.
The 3 phenotypic alleles include 1 targeted KO, 1 spontaneous, and 1 chemically induced.
(Numbering of cDNA sequence is based on the start codon of RefSeq NM_007903. view ORF here.)
A ENU-derived Edn3 mutant (R96H) is predicted to disrupt furin-mediated proteolytic cleavage of pro-endothelin that is necessary to form biologically active EDN3 (Matera et al.).
Endothelin 3 (Edn3) encodes a ligand important to developing neural crest cells and is allelic to the spontaneous mouse mutation occurring at the lethal spotting (ls) locus. Edn3(ls/ls) mutants exhibit a spotted phenotype due to reduced numbers of neural crest-derived melanocyte precursors in the skin. Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons.