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53347 UBASH3A

53347

UBASH3A

ubiquitin associated and SH3 domain containing A

protein-coding

Homo sapiens

基因描述

Type Description
Definition ubiquitin associated and SH3 domain containing A

研究结论

Date Results Publications
2020-05-30 11:52:00 Upon TCR engagement, UBASH3A enhances the downmodulation of cell-surface TCR-CD3. 31659016
2020-04-04 10:28:00 observations suggested that the dysregulation of UBASH3A might be associated with the pathogenesis of rheumatoid arthritis (RA), and UBASH3A gene polymorphisms (rs1893592 and rs3788013) might contribute to RA susceptibility in Chinese Han population. 30822156
2019-02-23 11:07:00 this reduction in UBASH3A, as a consequence of the minor allele at rs1893592, resulted in increased secretion of IL-2, a key cytokine that is required for T-cell activation and function but is deficient in some type 1 diabetes (T1D). Our study provides new mechanistic insights into how rs1893592 affects T1D and autoimmunity and how interactions between multiple T1D-associated, noncoding variants influence the disease risk 29491471
2018-02-10 10:24:00 UBASH3A gene SNP is associated with susceptibility to atopic dermatitis in Chinese Han population. 28747736
2017-09-02 10:26:00 UBASH3A attenuates the NF-kappaB signal transduction upon T-cell receptor (TCR) stimulation by specifically suppressing the activation of the IkappaB kinase complex. UBASH3A interacts with TAK1 and NEMO, suggesting that UBASH3A regulates the NF-kappaB signaling pathway by an ubiquitin-dependent mechanism. T1D risk alleles at rs11203203 and rs80054410 increase UBASH3A expression in CD4(+) T cells upon TCR stimulation. 28607106

名称对应

Type IDs
Synonymous CLIP4, STS-2, TULA, TULA-1
Gene
UniProtKB-ID: UBS3A_HUMAN
UniprotKB: P57075
UniParc: UPI0000E5A3ED, UPI000002B674, UPI0000137941
EMBL: BC069511, BC069483, CH471079, AF520809, BC069357, AF521702, AJ277750, BC069577, AP001746
Ensembl: ENSG00000160185
KO: hsa:53347
Nucleutide sequences
EMBL-CDS: AAH69357.1, AAP80731.1, AAP80738.1, EAX09560.1, AAH69483.1, AAH69511.1, CAB91543.1
Ensembl_TRS: ENST00000291535, ENST00000398367, ENST00000319294
Protein sequencees
Ensembl_PRO: ENSP00000317327, ENSP00000291535, ENSP00000381408
RefSeq: XP_011527911.1, NP_001230396.1, XP_011527908.1, XP_011527912.1, XP_006724076.1, NP_001001895.1, XP_011527907.1, XP_011527909.1, NP_061834.1
Others
UniRef100: UniRef100_P57075
UniRef90: UniRef90_P57075
UniRef50: UniRef50_P57075
UniGene: Hs.473912
CCDS: CCDS33566.1, CCDS58791.1, CCDS13687.1

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