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134359 POC5

134359

POC5

POC5 centriolar protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition POC5 centriolar protein

研究结论

Date Results Publications
2019-12-07 11:21:00 POC5 mutation is associated with impairment of cell cycle, cilia length and centrosome protein interactions in Adolescent idiopathic scoliosis. 30845169
2019-01-12 10:08:00 The findings demonstrate that Poc5 is important for normal retinal development and function. Altogether, this study presents POC5 as a novel gene involved autosomal recessively inherited RP, and strengthens the hypothesis that mutations in centriolar proteins are important cause of retinal dystrophies. 29272404
2018-11-03 10:10:00 Common variant rs6892146 of POC5 is associated with the development of adolescent idiopathic scoliosis in the Chinese population. 29189569
2017-08-12 10:31:00 Depletion of CEP295 blocks the incorporation of POC5 and POC1B into the distal portion of centrioles and suppresses the post-translational modification of centriolar microtubules . Our study thus uncovers a new role for CEP295 during centriole elongation. 27185865
2015-05-16 10:08:00 Mutations in the POC5 gene contribute to the occurrence of idiopathic scoliosis. 25642776

名称对应

Type IDs
Synonymous C5orf37
Gene
UniProtKB-ID: POC5_HUMAN
UniprotKB: Q8NA72
UniParc: UPI000020CB20, UPI00005764F4, UPI0000F5346F
EMBL: AK093098, AK296071, BC101328, BC101326, BC065750, BC101325, BC101327
Ensembl: ENSG00000152359
KO: hsa:134359
Nucleutide sequences
EMBL-CDS: AAI01326.1, AAI01328.1, BAG58829.1, AAH65750.1, BAC04054.1, AAI01327.1
Ensembl_TRS: ENST00000446329, ENST00000428202, ENST00000510798
Protein sequencees
Ensembl_PRO: ENSP00000426796, ENSP00000410216, ENSP00000399481
RefSeq: XP_016864526.1, NP_001092741.1, XP_016864529.1, NP_689621.2, XP_024310131.1, XP_011541462.1, XP_011541460.1, XP_005248493.1, XP_011541461.1, XP_024310130.1
Others
UniRef100: UniRef100_Q8NA72
UniRef90: UniRef90_Q8NA72
UniRef50: UniRef50_Q8NA72
UniGene: Hs.432726
CCDS: CCDS47237.1, CCDS47236.1

全选

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