| Type | Description |
|---|---|
| Definition | centrosomal protein 250 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 10:44:00 | Study identified a nonsense mutation (c.562C>T, p.R188*) in CEP250 in a consanguineous family with nonsyndromic retinitis pigmentosa (RP). The disruption of Cep250 resulted in severe impairment of retinal function and significant retinal morphological alterations a novel Cep250 knockin mouse line. | 30998843 |
| 2019-11-23 10:33:00 | CEP250 mutation is associated with Usher syndrome. | 30459346 |
| 2019-03-30 13:08:00 | Our data indicate that mutations of CEP250 can cause mild cone-rod dystrophy (CRD) and early-onset sensorineural hearing loss (SNHL) in Japanese patients. Because the ophthalmological phenotypes were very mild, high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP250-associated disease. | 29718797 |
| 2017-09-23 11:19:00 | C-NAP1-null cells were viable and had an increased frequency of premature centriole separation, accompanied by reduced density of the centriolar satellites, with reexpression of C-NAP1 rescuing both phenotypes. Centrosome amplification induced by DNA damage or by PLK4 or CDK2 overexpression was markedly reduced in the absence of C-NAP1. | 28100636 |
| 2015-05-16 11:43:00 | ASPP1/2 interacted with centrosome linker protein C-Nap1. Co-depletion of ASPP1 and ASPP2 inhibited re-association of C-Nap1 with centrosome at the end of mitosis. | 25660448 |
| Type | IDs |
|---|---|
| Synonymous | C-NAP1, CEP2, CNAP1 |
| Gene |
UniProtKB-ID:
CP250_HUMAN
UniprotKB:
Q9BV73
UniParc:
UPI0000199FFB,
UPI000006FE8F
EMBL:
AF049105,
AF022655,
AL121586,
CH471077
Ensembl:
ENSG00000126001
KO:
hsa:11190
|
| Nucleutide sequences |
EMBL-CDS:
CAB89415.1,
EAW76207.1,
AAC07988.1,
AAC06349.1,
EAW76206.1
Ensembl_TRS:
ENST00000397527
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000380661
RefSeq:
XP_006723753.1,
XP_006723756.1,
NP_001305148.1,
NP_009117.2,
XP_005260321.1,
XP_016883107.1,
XP_006723757.1,
XP_011526819.1,
XP_016883106.1,
XP_011526821.1,
XP_005260320.1,
XP_016883108.1,
XP_011526820.1,
XP_006723755.1,
XP_006723754.1,
XP_005260319.1
|
| Others |
UniRef100:
UniRef100_Q9BV73
UniRef90:
UniRef90_Q9BV73
UniRef50:
UniRef50_Q9BV73
UniGene:
Hs.443976
CCDS:
CCDS13255.1
|
| {{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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