Type | Description |
---|---|
Definition | clusterin associated protein 1 |
Date | Results | Publications |
---|---|---|
2017-09-16 13:07:00 | Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene | 26820066 |
2014-09-27 10:13:00 | We identified a novel mutation in cluap1 and determined that photoreceptor maintenance is dependent on cluap1. | 24970261 |
Type | IDs |
---|---|
Synonymous | fj16b11, unm_au5, wu:fj16b11, zgc:56115 |
Gene |
UniProtKB-ID:
CLUA1_DANRE
UniprotKB:
Q7ZVC2
UniParc:
UPI0000D7E642
EMBL:
BC045921,
BC067601,
BC097072
KO:
dre:406281
|
Nucleutide sequences |
EMBL-CDS:
AAH45921.1,
AAH97072.1,
AAH67601.1
Gene_ORFName:
zgc:56115
|
Protein sequencees |
RefSeq:
XP_021325795.1,
XP_021325796.1,
XP_021325797.1,
NP_998173.1
|
Others |
UniRef100:
UniRef100_Q7ZVC2
UniRef90:
UniRef90_Q7ZVC2
UniRef50:
UniRef50_Q7ZVC2
UniGene:
Dr.80808
|
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---|---|---|---|---|---|---|---|---|
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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