| Gene Symbol |
CEP164
|
| Entrez Gene |
22897
|
| Alt Symbol |
NPHP15
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
centrosomal protein 164kDa
|
| Other Description |
centrosomal protein of 164 kDa
|
| Swissprots |
Q7Z2X9 Q9UPV0 Q9UFJ6 Q9NVS0 Q6PKH9
|
| Accessions |
CCQ43474 EAW67318 EAW67319 EAW67320 EAW67321 Q9UPV0 AB028975 BAA83004 AK001412 BAA91677 AK125995 BAC86384 AK302991 BAH13870 AK303067 BAG64184 AL117632 CAB56023 AL137265 CAB70664 AL833532 BC000602 AAH00602 BC054015 AAH54015 BC152748 AAI52749 BC156876 AAI56877 BX647583 BX648682 XM_005271453 XP_005271510 XM_005271456 XP_005271513 XM_005271457 XP_005271514 XM_006718788 XP_006718851 XM_006718794 XP_006718857 XM_011542670 XP_011540972 XM_011542671 XP_011540973 XM_011542672 XP_011540974 XM_011542673 XP_011540975 XM_011542674 XP_011540976 XM_011542675 XP_011540977 XM_011542676 XP_011540978 XM_011542677 XP_011540979 XM_011542678 XP_011540980 XM_011542679 XP_011540981 XM_011542680 XP_011540982 XM_011542681 XP_011540983 XM_011542682 XP_011540984 XM_011542683 XP_011540985 XM_011542685 XP_011540987 XM_011542686 XP_011540988 XM_011542687 XP_011540989 XM_011542688 XP_011540990 XM_011542689 XP_011540991 XM_011542690 XP_011540992 XR_428971 XR_947808 XR_947809 XR_947810 XR_947811 NM_001271933 NP_001258862 NM_014956 NP_055771
|
| 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:0000269|PubMed:17954613, ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:23348840}.
|
| Subcellular Location |
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.
|
| Tissue Specificity |
Expressed in several cell lines. {ECO:0000269|PubMed:17954613}.
|