| Type | Description |
|---|---|
| Definition | retinoid isomerohydrolase RPE65 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:48:00 | Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration. | 33027920 |
| 2021-01-23 13:00:00 | Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A). | 31954326 |
| 2021-01-23 13:00:00 | RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. | 31273949 |
| 2021-01-02 12:49:00 | Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases. | 32061750 |
| 2020-10-10 13:01:00 | Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. | 31595490 |
| Type | IDs |
|---|---|
| Synonymous | BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65 |
| Gene |
UniProtKB-ID:
RPE65_HUMAN
UniprotKB:
Q16518
UniParc:
UPI000004346C
EMBL:
AF039859,
BC075035,
U20479,
AF039863,
U20484,
U20482,
U20510,
AF039861,
U18991,
U20485,
AF039866,
AL139413,
AF039855,
AF039858,
CH471059,
BC075036,
AF039867,
AK289925,
AF039865,
U20481,
U20477,
AF039864,
U20476,
U20478,
AF039860,
AF039868,
AF039862,
AF039856,
U20486,
AF039857
Ensembl:
ENSG00000116745
KO:
hsa:6121
|
| Nucleutide sequences |
EMBL-CDS:
AAA99012.1,
AAH75035.1,
AAH75036.1,
EAX06478.1,
AAC14586.1,
BAF82614.1,
AAC39660.1
Ensembl_TRS:
ENST00000262340
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000262340
RefSeq:
XP_016857516.1,
NP_000320.1
|
| Others |
UniRef100:
UniRef100_Q16518
UniRef90:
UniRef90_Q16518
UniRef50:
UniRef50_Q16518
UniGene:
Hs.2133
CCDS:
CCDS643.1
|
| {{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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