InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP164

Summary

InnateDB Protein

IDBP-73245.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CEP164

Protein Name

centrosomal protein 164kDa

Synonyms

NPHP15;

Species

Homo sapiens

Ensembl Protein

ENSP00000278935

InnateDB Gene

IDBG-73243 (CEP164)

Protein Structure

UniProt Annotation

Function

Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. {ECO:0000269PubMed:17954613, ECO:0000269PubMed:18283122, ECO:0000269PubMed:23348840}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1.

Disease Associations

Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. {ECO:0000269PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in several cell lines. {ECO:0000269PubMed:17954613}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006281	DNA repair
GO:0007067	mitotic nuclear division
GO:0042384	cilium assembly

Cellular Component

GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005814	centriole
GO:0005829	cytosol
GO:0005929	cilium
GO:0097539	ciliary transition fiber