| Gene Symbol |
CEP290
|
| Entrez Gene |
80184
|
| Alt Symbol |
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
centrosomal protein 290kDa
|
| Other Description |
Bardet-Biedl syndrome 14 protein|CTCL tumor antigen se2-2|Meckel syndrome, type 4|POC3 centriolar protein homolog|cancer/testis antigen 87|centrosomal protein of 290 kDa|monoclonal antibody 3H11 antigen|nephrocytsin-6|prostate cancer antigen T21|tumor antigen se2-2
|
| Swissprots |
Q9H6Q7 Q66GS8 Q1PSK5 Q9H8I0 Q9H2G6 O15078
|
| Accessions |
EAW97413 EAW97414 O15078 AB002371 BAA20828 AF273044 AAG34904 AF317887 AAK01919 AK023677 AK025632 BAB15196 AY590151 AAT01278 BC008641 AAH08641 BC043398 AAH43398 BC156462 AAI56463 BC172566 AAI72566 BK005587 DAA05591 BU676074 DQ109808 AAZ83370 XM_011538756 XP_011537058 XM_011538757 XP_011537059 XM_011538758 XP_011537060 XM_011538759 XP_011537061 XM_011538760 XP_011537062 XM_011538761 XP_011537063 XM_011538762 XP_011537064 XM_011538763 XP_011537065 XM_011538764 XP_011537066 XM_011538765 XP_011537067 XM_011538766 XP_011537068 NM_025114 NP_079390
|
| Function |
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.
|
| Tissue Specificity |
Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}.
|