This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Centrosomal protein of 290 kDa.
Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins into centrosomes such as of PCM1 (PubMed:24421332). Required for the right localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a part in ciliary transport processes (By similarity).
Human | |
---|---|
Gene Name: | CEP290 |
Uniprot: | O15078 |
Entrez: | 80184 |
Belongs to: |
---|
No superfamily |
BBS14Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; centrosomal protein 290kDa; Cep290; CT87JBTS6; FLJ13615; JBTS5CTCL tumor antigen se2-2; KIAA0373FLJ21979; LCA10monoclonal 3H11 antigen; MKS4; Nephrocystin-6; NPHP6centrosomal protein of 290 kDa; POC3 centriolar protein homolog; POC3; prostate cancer antigen T21; rd16,3H11AG; SLSN6nephrocytsin-6,3H11Ag; Tumor antigen se2-2
Mass (kDA):
290.386 kDA
Human | |
---|---|
Location: | 12q21.32 |
Sequence: | 12; NC_000012.12 (88049013..88142216, complement) |
Ubiquitous. Expressed strongly in placenta and weakly in brain.
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasmic vesicle. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By
PMID: 16682973 by Sayer J.A., et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
PMID: 11149944 by Eichmueller S., et al. Serological detection of cutaneous T-cell lymphoma-associated antigens.