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22897 CEP164

22897

CEP164

centrosomal protein 164

protein-coding

Homo sapiens

基因描述

Type Description
Definition centrosomal protein 164

研究结论

Date Results Publications
2020-04-04 11:44:00 these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated Nephronophthisis-related ciliopathies 31990917
2017-08-05 10:45:00 data suggest that CEP164 is not required in the DNA damage response. 26966185
2015-07-04 15:24:00 This study reveals a novel role for CEP164 in the pathogenesis of nephronophthisis, in which mutations cause ciliary defects coupled with DNA damage induced replicative stress, cell death, and epithelial-to-mesenchymal transition 25340510
2015-05-30 12:11:00 Evidence is provided that TTBK2 effectively phosphorylate Cep164 and Cep97 and inhibits the interaction between Cep164 and its binding partner Dishevelled-3 (an important regulator of ciliogenesis) in a kinase activity-dependent manner. 25297623
2014-09-20 12:17:00 data suggest that TTBK2 also acts upstream of Cep164, contributing to the assembly of distal appendages 24982133

名称对应

Type IDs
Synonymous NPHP15
Gene
UniProtKB-ID: CE164_HUMAN
UniprotKB: Q9UPV0
UniParc: UPI000006D385, UPI00001FA422
EMBL: AP001822, AB028975, BC054015, AK001412, AP000892, AL117632, BC000602
Ensembl: ENSG00000110274
KO: hsa:22897
Nucleutide sequences
EMBL-CDS: CAB56023.1, AAH00602.1, AAH54015.1, BAA83004.2, BAA91677.1
Ensembl_TRS: ENST00000278935
Protein sequencees
Ensembl_PRO: ENSP00000278935
RefSeq: XP_011540992.1, XP_016872859.1, XP_016872870.1, XP_016872874.1, NP_001258862.1, XP_016872858.1, XP_016872865.1, XP_016872856.1, XP_016872861.1, XP_016872862.1, XP_016872860.1, XP_005271514.1, XP_016872866.1, XP_016872869.1, XP_006718857.1, XP_016872854.1, XP_005271510.1, NP_055771.4, XP_016872868.1, XP_005271513.1, XP_016872864.1, XP_016872872.1, XP_016872867.1, XP_016872875.1, XP_016872873.1, XP_016872857.1, XP_016872853.1, XP_006718851.1, XP_016872855.1, XP_011540976.1, XP_016872863.1, XP_016872871.1
Others
UniRef100: UniRef100_Q9UPV0
UniRef90: UniRef90_Q9UPV0
UniRef50: UniRef50_Q9UPV0
UniGene: Hs.504009
CCDS: CCDS31683.1

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