| Type | Description |
|---|---|
| Definition | endothelin converting enzyme like 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-05-25 10:32:00 | A novel ECEL1 homozygote mutation in the patient with distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. | 29663639 |
| 2015-12-19 11:07:00 | Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita. | 25708584 |
| 2015-04-04 12:14:00 | Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) | 25173900 |
| 2014-12-20 12:39:00 | Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D. | 23829171 |
| 2014-12-20 10:18:00 | A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes. | 23808592 |
| Type | IDs |
|---|---|
| Synonymous | DA5D, DINE, ECEX, XCE |
| Gene |
UniProtKB-ID:
ECEL1_HUMAN,
A0A6F7YIA8_HUMAN
UniprotKB:
O95672,
A0A6F7YIA8
UniParc:
UPI00006C21A2,
UPI000013E997
EMBL:
AY358923,
AJ130734,
DQ114476,
AC092165,
KU870924,
BC050453,
Y16187
Ensembl:
ENSG00000171551
KO:
hsa:9427
|
| Nucleutide sequences |
EMBL-CDS:
CAA76113.1,
AAQ89282.1,
AAZ22338.1,
AAY24101.1,
CAB86601.1,
AAH50453.2,
ANC57571.1
Gene_ORFName:
UNQ2431/PRO4991
Ensembl_TRS:
ENST00000304546,
ENST00000409941
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000302051,
ENSP00000386333
RefSeq:
NP_001277716.1,
NP_004817.2
|
| Others |
UniRef100:
UniRef100_O95672
UniRef90:
UniRef90_O95672
UniRef50:
UniRef50_O95672
UniGene:
Hs.26880
CCDS:
CCDS2493.1,
CCDS77540.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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