MGP Database

MGP000908

Record overview

MGPD IDMGP000908
Gene ID1908
SpeciesHomo sapiens (Human)
Gene Nameendothelin 3
Gene Symbol EDN3
SynonymsET3; ET-3; WS4B; HSCR4; PPET3;
Alternate namesendothelin-3; preproendothelin-3;
Chromosome20
Map Location20q13.2-q13.3
SummaryThe 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. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
OrthologsView orthologs and multiple alignments for EDN3

Proteins

endothelin-3 isoform 1 preproprotein
Refseq ID:NP_996917
Protein GI:46370064
UniProt ID:P14138
mRNA ID:NM_207034
Length:238
RefSeq Status:
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCF
TYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKVEVK
DQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP
 
sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW
 
endothelin-3 isoform 2 preproprotein
Refseq ID:NP_996915
Protein GI:46370060
UniProt ID:P14138
mRNA ID:NM_207032
Length:219
RefSeq Status:
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCF
TYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKVRGA
NRGLCQRRLKSRTNKASRL
 
sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW
 
endothelin-3 isoform 3 preproprotein
Refseq ID:NP_996916
Protein GI:46370062
UniProt ID:P14138
mRNA ID:NM_207033
Length:224
RefSeq Status:
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCF
TYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSRQVEVKDQQSKQALDLHHPK
LMPGSGLALAPSTCPRCLFQEGAP
 
sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA
 
endothelin-3 isoform 4 preproprotein
Refseq ID:NP_001289384
Protein GI:698848571
UniProt ID:P14138
mRNA ID:NM_001302455
Length:198
RefSeq Status:
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCF
TYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKTG
 
sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW
 
endothelin-3 isoform 5 preproprotein
Refseq ID:NP_001289385
Protein GI:698848573
UniProt ID:P14138
mRNA ID:NM_001302456
Length:192
RefSeq Status:
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCF
TYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSRLKSRTNKASRL
 
sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA

mat_peptide: 97..117
product: Endothelin-3
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P14138.1)
calculated_mol_wt: 2647
peptide sequence: 
CTCFTYKDKECVYYCHLDIIW

sig_peptide: 1..16
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1735
peptide sequence: 
MEPGLWLLFGLTVTSA
 
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