CEP290 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1905515Biological processnon-motile cilium assembly
GO_0060271Biological processcilium assembly
GO_0030916Biological processotic vesicle formation
GO_0001822Biological processkidney development
GO_0070201Biological processregulation of establishment of protein localization
GO_1905349Biological processciliary transition zone assembly
GO_0042462Biological processeye photoreceptor cell development
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0048793Biological processpronephros development
GO_0030902Biological processhindbrain development
GO_0015031Biological processprotein transport
GO_0043010Biological processcamera-type eye development
GO_0090316Biological processpositive regulation of intracellular protein transport
GO_0097711Biological processciliary basal body-plasma membrane docking
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0036038Cellular componentMKS complex
GO_0005576Cellular componentextracellular region
GO_0034451Cellular componentcentriolar satellite
GO_0035580Cellular componentspecific granule lumen
GO_0016020Cellular componentmembrane
GO_0005813Cellular componentcentrosome
GO_0032991Cellular componentprotein-containing complex
GO_0005814Cellular componentcentriole
GO_0005829Cellular componentcytosol
GO_0035869Cellular componentciliary transition zone
GO_0005737Cellular componentcytoplasm
GO_0036064Cellular componentciliary basal body
GO_0005634Cellular componentnucleus
GO_0051011Molecular functionmicrotubule minus-end binding
GO_0042802Molecular functionidentical protein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCEP290
Protein nameCEP290 protein
Centrosomal protein 290
Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)
SynonymsBBS14
KIAA0373
NPHP6
DescriptionFUNCTION: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 . May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 . Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium . In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 . Activates ATF4-mediated transcription . .

AccessionsA0A6Q8PGA1
ENST00000676448.1
A0A6Q8PH24
J3KNF5
ENST00000675833.1
ENST00000675476.1
ENST00000675794.1
S4R322
ENST00000675559.1
ENST00000604024.5
ENST00000672414.2
ENST00000673058.2
A0A6Q8PGP6
ENST00000675230.1
A0A5F9ZHU6
F8W097
Q96HG2
A0A6Q8PGC3
Q05BJ6
ENST00000547691.8
ENST00000675089.1
A0A6Q8PFZ5
A0A6Q8PG44
A0A0A0MS86
ENST00000397838.8
ENST00000676418.1
ENST00000675361.1
A0A6Q8PH78
A0A5K1VW81
O15078
A0A6Q8PGB1
ENST00000309041.12
F8VS29
ENST00000552810.6
A0A5F9ZHV7
ENST00000676074.1
ENST00000552770.3
ENST00000675408.1
A0A6Q8PEZ6
ENST00000674971.1
ENST00000676351.1
ENST00000550962.6
A0A6Q8PGQ4
ENST00000547926.7