| Type | Description |
|---|---|
| Definition | centrosomal protein 290 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-18 12:23:00 | The C-terminal myosin-tail homology domain of CEP290 is disrupted after the connecting cilium is assembled, it shows that this domain is essential for protein confinement between the inner and the outer segments. | 31694913 |
| 2020-05-02 12:02:00 | c.2991+1655A>G is by far the most important CEP290 mutation, contributing to 87% of patients with the CEP290 mutation in Germany. In our cohort, a homozygous c.2991+1655A>G genotype presented with a more severe phenotype. | 31734136 |
| 2019-12-14 11:31:00 | CEP290-R1747Q missense mutation affects mobility of ciliary membrane-associated proteins. | 30478281 |
| 2019-12-07 11:49:00 | Cone vision improvement potential in LCA due to CEP290 or NPHP5 mutations is predictable from retinal structure using a machine learning approach. This should allow individual prediction of the maximal efficacy in clinical trials and guide decisions about dosing. | 31212307 |
| 2019-12-07 11:41:00 | Exon skipping that produces CEP290 isoforms retaining functional interactions with centrosomal proteins important to cilia formation and intraflagellar trafficking, is the likely cause of unusually mild retinal disease. | 29771326 |
| Type | IDs |
|---|---|
| Synonymous | 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 |
| Gene |
UniProtKB-ID:
CE290_HUMAN,
Q05BJ6_HUMAN
UniprotKB:
O15078,
Q05BJ6
UniParc:
UPI0000D60D15,
UPI0000E57483
EMBL:
AK025632,
BC043398,
AF273044,
BK005587,
AK023677,
AB002371,
AC091516,
DQ109808
Ensembl:
ENSG00000198707
KO:
hsa:80184
|
| Nucleutide sequences |
EMBL-CDS:
BAB15196.1,
AAZ83370.1,
DAA05591.1,
BAA20828.2,
AAG34904.1,
AAH43398.1
Ensembl_TRS:
ENST00000552810
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000448012
RefSeq:
XP_011537062.1,
XP_016875472.1,
XP_011537058.1,
XP_011537065.1,
XP_011537060.1,
XP_016875470.1,
XP_016875471.1,
XP_011537061.1,
NP_079390.3,
XP_011537064.1,
XP_011537067.1,
XP_011537063.1,
XP_016875469.1,
XP_011537066.1,
XP_011537059.1,
XP_011537068.1
|
| Others |
UniRef100:
UniRef100_O15078,
UniRef100_Q05BJ6
UniRef90:
UniRef90_Q05BJ6,
UniRef90_O15078
UniRef50:
UniRef50_Q05BJ6,
UniRef50_O15078
UniGene:
Hs.150444
CCDS:
CCDS55858.1
|
| {{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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