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EDN1 (endothelin 1)
Gene
Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1906
Gene nameGene Name - the full gene name approved by the HGNC.
Endothelin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EDN1
SynonymsGene synonyms aliases
ARCND3, ET1, HDLCQ7, PPET1, QME
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatme
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs587777231 A>G Pathogenic Missense variant, coding sequence variant
rs587777232 C>A Pathogenic Missense variant, coding sequence variant
rs587777233 T>A Pathogenic Missense variant, coding sequence variant
rs587777234 T>G Pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT004455 hsa-miR-155-5p Luciferase reporter assay 19783678
MIRT005432 hsa-miR-199a-5p Luciferase reporter assay 19783678
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT022267 hsa-miR-124-3p Microarray 18668037
Transcription factors
Gene SNPs Transcription factors Other IDs
Transcription factor Regulation Reference
FOXO1 Unknown 19887561
HIF1A Activation 19783678
JUN Unknown 12208352
NFKB1 Unknown 21334436
NR1H4 Repression 16357303
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19767294
GO:0001516 Process Prostaglandin biosynthetic process IDA 9492062
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001821 Process Histamine secretion IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Other IDs
UniProt ID P05305
Protein name Endothelin-1 (Preproendothelin-1) (PPET1) [Cleaved into: Endothelin-1 (ET-1); Big endothelin-1]
Protein function Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (P
PDB 1EDN , 1EDP , 1T7H , 1V6R , 5GLH , 6DK5 , 8HCQ , 8HCX , 8IY5 , 8IY6 , 8XGR , 8XVE , 8XVH , 8XVI , 8XWP , 8XWQ , 8ZRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00322 Endothelin
49 → 77
Endothelin family
 Repeat
Sequence 
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMD
KECVYFCHLDIIWVNTPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCW
NFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSE
TMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW
Sequence length 212
Interactions View interactions

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