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11078 TRIOBP

11078

TRIOBP

TRIO and F-actin binding protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition TRIO and F-actin binding protein

研究结论

Date Results Publications
2019-10-26 11:37:00 TRIOBP-1 overexpression caused intracellular co-sequestration of hERG signal, reduced native IKr and disrupted action potential repolarization. 29507111
2019-05-18 12:37:00 roles of TRIO and F-actin-binding protein in human diseases 29890989
2018-05-19 11:27:00 Results reveal that Tara forms a functional complex with Ndel1 and alters its intracellular distribution. The Ndel1-Tara complex plays a role in regulating actin cytoskeleton organization, which is critical for cell migration. 27546710
2018-03-10 12:14:00 Case Reports: novel TRIOBP mutations associated with moderate, stable hereditary hearing impairment. 28089734
2017-12-16 12:31:00 Based on whole exome analysis, we identified two TRIOBP pathogenic variants (c.802_805delCAGG, p.Gln268Leufs*610 and c.5014G>T, p.Gly1672*, the first of which was novel) causative of nonsyndromic, peri- to postlingual, moderate-to-severe hearing loss in three siblings from a Polish family. 29197352

名称对应

Type IDs
Synonymous DFNB28, HRIHFB2122, TAP68, TARA, dJ37E16.4
Gene
UniProtKB-ID: TARA_HUMAN
UniprotKB: Q9H2D6
UniParc: UPI0000470C8F, UPI000067CB87, UPI000067CB88, UPI00006C21C0, UPI0000049C43, UPI000045707F, UPI000045707E
EMBL: AB051449, DQ228005, AB015343, AF281030, BC013278, BC003618, DQ228004, Z83844, DQ228003, BC022200, DQ278603, BC004303
Ensembl: ENSG00000100106
KO: hsa:11078
Nucleutide sequences
EMBL-CDS: ABB77204.1, ABB59560.1, AAH03618.1, BAA34800.1, AAH13278.2, AAH04303.1, ABB59559.1, AAG44841.1, ABB59561.1, BAB33332.2
Gene_ORFName: HRIHFB2122
Ensembl_TRS: ENST00000644935, ENST00000403663, ENST00000407319
Protein sequencees
Ensembl_PRO: ENSP00000386026, ENSP00000496394, ENSP00000383913
RefSeq: NP_008963.3, NP_001034230.1, NP_619538.2
Others
UniRef100: UniRef100_Q9H2D6
UniRef90: UniRef90_Q9H2D6
UniRef50: UniRef50_Q9H2D6
UniGene: Hs.533030
CCDS: CCDS33644.1, CCDS43015.1, CCDS43016.1

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