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9662 CEP135

9662

CEP135

centrosomal protein 135

protein-coding

Homo sapiens

基因描述

Type Description
Definition centrosomal protein 135

研究结论

Date Results Publications
2019-09-14 11:17:00 Dysregulation of CEP135 isoforms promotes centriole overduplication and contributes to chromosome segregation errors in breast cancer cells. 30811267
2019-03-09 11:36:00 The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. The co-dominant model showed that CEP135 rs4865047 was significantly associated with patients with rapidly progressive proliferative diabetic retinopathy 30531682
2018-02-03 10:46:00 CEP135 segment 96-108 is a major microtubule-binding site. 27477386
2016-12-31 11:44:00 identified the second mutation in CEP135, confirming the role during embryonic brain development and in the pathophysiology of human primary microcephaly 26657937
2016-08-27 11:51:00 Authors suggest that the decrease in CEP135(mini) from centrosomes promotes centriole assembly. The repression of centriole duplication by a splice isoform of a protein that normally promotes it serves as a novel mechanism to limit centriole duplication. 26412126

名称对应

Type IDs
Synonymous CEP4, KIAA0635, MCPH8
Gene
UniProtKB-ID: CP135_HUMAN
UniprotKB: Q66GS9
UniParc: UPI00003CE420, UPI00000704D3
EMBL: AK023683, AC092627, BC136536, BK005586, AC118280, AC110611, AB014535, BC012003, BC136535
Ensembl: ENSG00000174799
KO: hsa:9662
Nucleutide sequences
EMBL-CDS: AAI36536.1, DAA05590.1, BAA31610.2, AAH12003.1, AAI36537.1
Ensembl_TRS: ENST00000257287, ENST00000422247
Protein sequencees
Ensembl_PRO: ENSP00000412799, ENSP00000257287
RefSeq: XP_005265845.1, NP_079285.2, XP_011532714.1, XP_006714118.1
Others
UniRef100: UniRef100_Q66GS9
UniRef90: UniRef90_Q66GS9
UniRef50: UniRef50_Q66GS9
UniGene: Hs.518767
CCDS: CCDS33986.1

全选

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