EDN1
entrez
1906
canonical
uniprot
P05305
canonical
ensembl
ENSG00000078401
resolver
ensp
ENSP00000368683
resolver
ensp
ENSP00000547423
resolver
ensp
ENSP00000547424
resolver
ensp
ENSP00000547425
resolver
ensp
ENSP00000547426
resolver
ensp
ENSP00000547427
resolver
ensp
ENSP00000547428
resolver
ensp
ENSP00000547430
resolver
ensp
ENSP00000547431
resolver
ensp
ENSP00000586914
resolver
ensp
ENSP00000641873
resolver
enst
ENST00000379375
resolver
enst
ENST00000877364
resolver
enst
ENST00000877365
resolver
enst
ENST00000877366
resolver
enst
ENST00000877367
resolver
enst
ENST00000877368
resolver
enst
ENST00000877371
resolver
enst
ENST00000877372
resolver
enst
ENST00000916855
resolver
enst
ENST00000971814
resolver
genesymbol
EDN1
resolver
hgnc
HGNC:3176
resolver
uniprot
Q6FH53
resolver
uniprot
Q96DA1
resolver
uniprot_entry
EDN1_HUMAN
resolver
uniprot_entry
Q6FH53_HUMAN
resolver
uniprot_sec
Q96DA1
resolver
amino_acid_sequence
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW
uniprot
proteins
disease_involvement
DISEASE: Question mark ears, isolated (QME) [MIM:612798]: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. {ECO:0000269|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]: An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. {ECO:0000269|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:19086031). Also binds the DEAR/FBXW7-AS1 receptor (PubMed:17446437). Promotes mesenteric arterial wall remodeling via activation of ROCK signaling and subsequent colocalization of NFATC3 with F-actin filaments (By similarity). NFATC3 then translocates to the nucleus where it subsequently promotes the transcription of the smooth muscle hypertrophy and differentiation marker ACTA2 (By similarity). {ECO:0000250|UniProtKB:P09558, ECO:0000250|UniProtKB:P22387, ECO:0000269|PubMed:17446437, ECO:0000269|PubMed:19086031}.
uniprot
proteins
mass_dalton
24425
uniprot
proteins
protein_family
Endothelin/sarafotoxin family
uniprot
proteins
pubmed
10231710
uniprot
proteins
pubmed
10334806
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
10438732
uniprot
proteins
pubmed
1422154
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
1515112
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17357073
uniprot
proteins
pubmed
1736987
uniprot
proteins
pubmed
17446437
uniprot
proteins
pubmed
18288492
uniprot
proteins
pubmed
1859417
uniprot
proteins
pubmed
1864385
uniprot
proteins
pubmed
19086031
uniprot
proteins
pubmed
24268655
uniprot
proteins
pubmed
2649896
uniprot
proteins
pubmed
2659594
uniprot
proteins
pubmed
2670930
uniprot
proteins
pubmed
3282927
uniprot
proteins
pubmed
7664037
uniprot
proteins
pubmed
7773179
uniprot
proteins
pubmed
8450044
uniprot
proteins
pubmed
9284755
uniprot
proteins
sequence_length
212
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins