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90665 TBL1Y

90665

TBL1Y

transducin beta like 1 Y-linked

protein-coding

Homo sapiens

基因描述

Type Description
Definition transducin beta like 1 Y-linked

研究结论

Date Results Publications
2019-05-25 11:28:00 TBL1Y mutation causes syndromic hearing loss. Pathogenic variant affects protein expression and stability. 30341416
2018-08-18 10:34:00 reducing TBL1Y cellular level using siRNA approach influenced cardiac differentiation by reducing its efficacy as well as increasing the probability of impaired contractions; proposed reclassification of TBL1Y as "found missing protein" 28853286
2015-10-24 11:31:00 TBL1 is required to protect GPS2 from degradation, with methylation of GPS2 by arginine methyltransferase PRMT6 regulating the interaction with TBL1 and inhibiting proteasome-dependent degradation. 26070566
2012-05-26 10:45:00 Our findings suggest that TBL1Y is involved in the genesis of non-syndromic coarctation of the aorta. 22280357
2011-04-09 11:05:00 Taken together,these findings suggest that TBL1 controls NF-kB activation by recruiting NF-kB to its target gene promoter. 21189284

名称对应

Type IDs
Synonymous TBL1
Gene
UniProtKB-ID: TBL1Y_HUMAN, A0A024R189_HUMAN
UniprotKB: Q9BQ87, A0A024R189
UniParc: UPI0000136A73
EMBL: BC130473, BC130471, CH471163, AF332222, AF332220, AF332221
Ensembl: ENSG00000092377
KO: hsa:90665
Nucleutide sequences
EMBL-CDS: EAW59126.1, AAK13474.1, AAK13473.1, AAK13472.1, AAI30472.1, AAI30474.1, EAW59128.1, EAW59127.1
Gene_ORFName: hCG_1997773
Ensembl_TRS: ENST00000355162, ENST00000346432, ENST00000383032
Protein sequencees
Ensembl_PRO: ENSP00000372499, ENSP00000328879, ENSP00000347289
RefSeq: NP_150600.1, XP_005262629.1, XP_016885575.1, NP_599020.1, XP_016885576.1, XP_024308265.1, NP_599021.1
Others
UniRef100: UniRef100_Q9BQ87
UniRef90: UniRef90_Q9BQ87
UniRef50: UniRef50_Q9BZK7
UniGene: Hs.664560
CCDS: CCDS14779.1

全选

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