InnateDB Protein
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IDBP-93102.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ECE1
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Protein Name
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endothelin converting enzyme 1
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Synonyms
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ECE;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000364028
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InnateDB Gene
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IDBG-93094 (ECE1)
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Protein Structure
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Function |
Converts big endothelin-1 to endothelin-1. {ECO:0000269PubMed:9396733}.
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Subcellular Localization |
Cell membrane; Single-pass type II membrane protein.
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Disease Associations |
Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [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:0000269PubMed:9915973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. {ECO:0000269PubMed:10491078, ECO:0000269PubMed:9396733}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
17
[view]
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Protein-Protein |
17
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008753
Peptidase M13, N-terminal domain
IPR018497
Peptidase M13, C-terminal domain
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PFAM |
PF05649
PF01431
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PRINTS |
PR00786
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P42892
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PhosphoSite |
PhosphoSite-P42892
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TrEMBL |
E9PN99
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UniProt Splice Variant |
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Entrez Gene |
1889
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UniGene |
Hs.195080
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RefSeq |
NP_001388
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HUGO |
HGNC:3146
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OMIM |
600423
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CCDS |
CCDS215
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HPRD |
02690
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IMGT |
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EMBL |
AB031742
AF018034
AJ130828
AK290656
AK304167
AL031005
AL031728
AY953519
BC117256
BC126257
CH471134
D43698
D49471
X91922
X91923
X91924
X91925
X91926
X91927
X91928
X91929
X91930
X91931
X91932
X91933
X91934
X91935
X91936
X91937
X91938
X91939
X98272
Z35307
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GenPept |
AAD21221
AAI17257
AAI26258
AAX35820
BAA07800
BAA08442
BAA83687
BAF83345
BAG65053
CAA63015
CAA63016
CAA66922
CAA84548
CAB46443
CAB52285
CAI19064
CAI20192
CAI20194
CAI20195
EAW94958
EAW94959
EAW94962
EAW94963
EAW94964
EAW94965
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