ECE1
entrez
1889
canonical
uniprot
P42892
canonical
ensembl
ENSG00000117298
resolver
ensp
ENSP00000264205
resolver
ensp
ENSP00000349581
resolver
ensp
ENSP00000364028
resolver
ensp
ENSP00000405088
resolver
genesymbol
ECE1
resolver
hgnc
HGNC:3146
resolver
uniprot
A8K3P1
resolver
uniprot
B4E291
resolver
uniprot
Q14217
resolver
uniprot
Q17RN5
resolver
uniprot
Q2Z2K8
resolver
uniprot
Q58GE7
resolver
uniprot
Q5THM5
resolver
uniprot
Q5THM7
resolver
uniprot
Q5THM8
resolver
uniprot
Q9UJQ6
resolver
uniprot
Q9UPF4
resolver
uniprot
Q9UPM4
resolver
uniprot
Q9Y501
resolver
uniprot_entry
ECE1_HUMAN
resolver
uniprot_sec
A8K3P1
resolver
uniprot_sec
B4E291
resolver
uniprot_sec
Q14217
resolver
uniprot_sec
Q17RN5
resolver
uniprot_sec
Q2Z2K8
resolver
uniprot_sec
Q58GE7
resolver
uniprot_sec
Q5THM5
resolver
uniprot_sec
Q5THM7
resolver
uniprot_sec
Q5THM8
resolver
uniprot_sec
Q9UJQ6
resolver
uniprot_sec
Q9UPF4
resolver
uniprot_sec
Q9UPM4
resolver
uniprot_sec
Q9Y501
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by phosphoramidon (PubMed:18992253). Activated by K49-P1-20, a twenty-residue synthetic peptide shortened from the snake B.asper myotoxin II (PubMed:26931059). {ECO:0000269|PubMed:26931059}.
uniprot
proteins
amino_acid_sequence
MRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKTCLPRWKFCVSDTENNLGFALGPMFVKATFAEDSKSIATEIILEIKKAFEESLSTLKWMDEETRKSAKEKADAIYNMIGYPNFIMDPKELDKVFNDYTAVPDLYFENAMRFFNFSWRVTADQLRKAPNRDQWSMTPPMVNAYYSPTKNEIVFPAGILQAPFYTRSSPKALNFGGIGVVVGHELTHAFDDQGREYDKDGNLRPWWKNSSVEAFKRQTECMVEQYSNYSVNGEPVNGRHTLGENIADNGGLKAAYRAYQNWVKKNGAEHSLPTLGLTNNQLFFLGFAQVWCSVRTPESSHEGLITDPHSPSRFRVIGSLSNSKEFSEHFRCPPGSPMNPPHKCEVW
uniprot
proteins
disease_involvement
DISEASE: Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870]: A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269|PubMed:9915973}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.71
uniprot
proteins
function
FUNCTION: Converts big endothelin-1 to endothelin-1. {ECO:0000269|PubMed:37835445, ECO:0000269|PubMed:9396733}.
uniprot
proteins
mass_dalton
87164
uniprot
proteins
mutagenesis
MUTAGEN 428; /note="C->S: Abolishes dimerization."; /evidence="ECO:0000269|PubMed:18992253
uniprot
proteins
protein_family
Peptidase M13 family
uniprot
proteins
pubmed
10491078
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18992253
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26931059
uniprot
proteins
pubmed
27102936
uniprot
proteins
pubmed
37835445
uniprot
proteins
pubmed
7695628
uniprot
proteins
pubmed
7805846
uniprot
proteins
pubmed
7864876
uniprot
proteins
pubmed
8530372
uniprot
proteins
pubmed
9396733
uniprot
proteins
pubmed
9915973
uniprot
proteins
sequence_length
770
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:37835445}; Single-pass type II membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 69..89; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins