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64065 PERP

64065

PERP

p53 apoptosis effector related to PMP22

protein-coding

Homo sapiens

基因描述

Type Description
Definition p53 apoptosis effector related to PMP22

研究结论

Date Results Publications
2020-08-15 19:05:00 MiR-629 regulates hypoxic pulmonary vascular remodelling by targeting FOXO3 and PERP. 31240850
2020-02-08 11:37:00 increased level of IL 17 and decreased level of PERP may constitute two major factors in the pathogenesis and activity of rheumatoid arthritis 31926492
2020-01-04 12:14:00 Study shows that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal truncation, which produces a protein that appears to be unstably incorporated into desmosomes, causes Olmsted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds. 30321533
2017-10-14 12:50:00 Downregulation of desmosomal formation transcripts including PERP may contribute to the aggressive phenotype seen in sparsely granulated GH pituitary tumors and their behavior in response to surgery and medical therapy. 28323918
2017-06-24 10:44:00 Expression of p63-tGFP induces apoptosis with marked increase in PERP expression and associated p53 accumulation. Lack of p63 contributes to reduced PERP levels and impaired p53-mediated apoptosis in UM. 27584665

名称对应

Type IDs
Synonymous KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1
Gene
UniProtKB-ID: PERP_HUMAN
UniprotKB: Q96FX8
UniParc: UPI00000734A2
EMBL: AK314526, AK075082, AF317550, AK074585, CH471051, AK097958, AL023582, AY157578, AL355362, AJ251830, BC010163
Ensembl: ENSG00000112378
KO: hsa:64065
Nucleutide sequences
EMBL-CDS: BAC11390.1, EAW47920.1, EAW47921.1, BAG37120.1, CAC17766.1, AAH10163.1, BAC11074.1, BAC05205.1, AAG35063.1, AAO13162.1
Ensembl_TRS: ENST00000421351
Protein sequencees
Ensembl_PRO: ENSP00000397157
RefSeq: XP_024302288.1, NP_071404.2
Others
UniRef100: UniRef100_Q96FX8
UniRef90: UniRef90_Q96FX8
UniRef50: UniRef50_Q96FX8
UniGene: Hs.201446
CCDS: CCDS5188.1

全选

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