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84196 USP48

84196

USP48

ubiquitin specific peptidase 48

protein-coding

Homo sapiens

基因描述

Type Description
Definition ubiquitin specific peptidase 48

研究结论

Date Results Publications
2020-08-12 14:43:00 USP48 pathogenic variants are relatively frequent in USP8 wild-type Cushing's disease tumors 31222332
2019-07-13 10:10:00 the catalytic USP domain of USP48 interacts with the N-terminal region of the Rel homology domain (RHD) of RelA. 30628021
2019-01-12 11:25:00 USP48 and BRAF mutations have a role in Cushing's disease 30093687
2018-12-22 10:04:00 USP48 inactivation reduces chromosomal instability of Fanconi anemia (FA)-defective cells. Our results highlight a role for USP48 in controlling DNA repair and suggest it as a potential target that could be therapeutically exploited for FA. 29891926
2018-11-10 12:12:00 In contrast to other deubiquitinating enzymes (DUBs) that have been previously implicated in the regulation of Mdm2 protein stability, USP48 did not induce Mdm2 stabilization by significantly reducing Mdm2 ubiquitination levels. 28233861

名称对应

Type IDs
Synonymous RAP1GA1, USP31
Gene
UniProtKB-ID: UBP48_HUMAN
UniprotKB: Q86UV5
UniParc: UPI000004381C, UPI00003711C7, UPI0000070764, UPI000006F149, UPI000189A7F4, UPI0000192195, UPI0000204630, UPI00002326F6
EMBL: BC067261, AK000110, BC103724, AL834375, AL359815, BC104896, BC013567, AL590103, BC007326, AK002190, AK026930, BC143354, AK026707, AF502942
Ensembl: ENSG00000090686
KO: hsa:84196
Nucleutide sequences
EMBL-CDS: AAI43355.1, BAB15591.1, BAA92128.1, BAA90950.1, CAD39038.1, AAI03725.1, AAH67261.1, AAH13567.1, AAI04897.1, BAB15533.1, AAH07326.2, AAP30832.1
Ensembl_TRS: ENST00000308271, ENST00000529637, ENST00000400301, ENST00000421625
Protein sequencees
Ensembl_PRO: ENSP00000431949, ENSP00000383157, ENSP00000406256, ENSP00000309262
RefSeq: NP_001337095.1, XP_011540566.1, XP_016857985.1, XP_016857986.1, XP_011540569.1, XP_006711018.1, NP_001337097.1, XP_024305935.1, NP_001317323.1, XP_011540570.1, XP_011540567.1, NP_001027902.1, NP_115612.4, NP_001337093.1, NP_001337096.1
Others
UniRef100: UniRef100_Q86UV5
UniRef90: UniRef90_Q86UV5
UniRef50: UniRef50_Q86UV5
UniGene: Hs.467524
CCDS: CCDS44084.1, CCDS30623.1, CCDS81277.1

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