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6907 TBL1X

6907

TBL1X

transducin beta like 1 X-linked

protein-coding

Homo sapiens

基因描述

Type Description
Definition transducin beta like 1 X-linked

研究结论

Date Results Publications
2019-05-25 10:09:00 TBL1X deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss. 30160833
2018-12-22 10:46:00 TBL1X mRNA and protein expression were significantly increased in the gestational diabetes mellitus placenta. TBL1X is a potential target of miR-138-5p contributed to the abnormal growth of the placenta by enhancing the proliferation of trophoblasts. 30463081
2018-05-19 11:56:00 missense mutations in the gene for TBLR1 that are associated with intellectual disability also prevent MeCP2 binding 28348241
2018-01-13 12:53:00 Targeted SUMOylation of TBL1 and TBLR1 may be a useful strategy for therapeutic treatment of androgen-independent prostate cancer. 27129164
2017-07-01 12:44:00 TBL1X mutations are associated with central hypothyroidism and hearing loss. 27603907

名称对应

Type IDs
Synonymous EBI, SMAP55, TBL1
Gene
UniProtKB-ID: TBL1X_HUMAN, A0A024RBV9_HUMAN
UniprotKB: O60907, A0A024RBV9
UniParc: UPI0000161FAF, UPI0000136A72
EMBL: BC052304, AC003036, Y12781, AK289409, CH471074, BC032708, AK290962
Ensembl: ENSG00000101849
KO: hsa:6907
Nucleutide sequences
EMBL-CDS: BAF82098.1, AAH32708.1, AAH52304.1, BAF83651.1, CAA73319.1, EAW98771.1, EAW98772.1
Gene_ORFName: hCG_1981775
Ensembl_TRS: ENST00000646640, ENST00000645353, ENST00000645686, ENST00000424279, ENST00000380961, ENST00000407597
Protein sequencees
Ensembl_PRO: ENSP00000385988, ENSP00000370348, ENSP00000496215, ENSP00000495556, ENSP00000394097, ENSP00000493782
RefSeq: NP_001132938.1, NP_001132939.1, NP_001132940.1, NP_005638.1
Others
UniRef100: UniRef100_O60907
UniRef90: UniRef90_O60907
UniRef50: UniRef50_O60907
UniGene: Hs.495656
CCDS: CCDS14133.1, CCDS48078.1

全选

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