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89910 UBE3B

89910

UBE3B

ubiquitin protein ligase E3B

protein-coding

Homo sapiens

基因描述

Type Description
Definition ubiquitin protein ligase E3B

研究结论

Date Results Publications
2021-01-09 13:34:00 TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation. 33298911
2018-06-23 10:49:00 we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies. 29160006
2017-07-08 12:29:00 studies demonstrate that UBE3B is an E3 ubiquitin ligase and reveal that the enzyme is regulated by calmodulin. Furthermore, the modulation of UBE3B via calmodulin and calcium implicates a role for calcium signaling in mitochondrial protein ubiquitylation, protein turnover, and disease 28003368
2017-06-24 10:54:00 Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain 28003643
2017-04-19 16:07:00 The E3 ligase activity of UBE3B is regulated by its interaction with calmodulin via the N-terminal IQ domain. 28003368

名称对应

Type IDs
Synonymous BPIDS, KOS
Gene
UniProtKB-ID: UBE3B_HUMAN, A0A024RBI2_HUMAN
UniprotKB: Q7Z3V4, A0A024RBI2
UniParc: UPI000013D710, UPI000013DC3B, UPI000019AB5C
EMBL: AL096740, BC141880, BC032301, BC108705, BC051266, BX537403, CH471054, AC007570, AF251046, BC068221
Ensembl: ENSG00000151148
KO: hsa:89910
Nucleutide sequences
EMBL-CDS: AAI08706.1, AAH68221.1, AAI41881.1, AAH51266.1, AAH32301.1, CAH56410.1, CAD97645.1, AAK28419.2, EAW97865.1, EAW97866.1
Gene_ORFName: hCG_40331
Ensembl_TRS: ENST00000449510, ENST00000342494, ENST00000540230, ENST00000434735, ENST00000536398, ENST00000340074
Protein sequencees
Ensembl_PRO: ENSP00000440585, ENSP00000443565, ENSP00000391529, ENSP00000340596, ENSP00000395802, ENSP00000342614
RefSeq: NP_569733.2, NP_001257378.1, XP_011537261.1, NP_001257380.1, XP_016875684.1, XP_016875685.1, XP_011537263.1, XP_005254044.1, XP_006719745.1, NP_001257379.1, XP_006719744.1, XP_024305037.1, NP_904324.1
Others
UniRef100: UniRef100_Q7Z3V4
UniRef90: UniRef90_Q7Z3V4
UniRef50: UniRef50_Q7Z3V4
UniGene: Hs.374067
CCDS: CCDS58277.1, CCDS9129.1

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