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4646 MYO6

4646

MYO6

myosin VI

protein-coding

Homo sapiens

基因描述

Type Description
Definition myosin VI

研究结论

Date Results Publications
2021-02-02 13:23:00 Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss. 32143290
2020-09-19 16:25:00 Competition between two high- and low-affinity protein-binding sites in myosin VI controls its cellular function. 31744880
2020-09-19 16:23:00 A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 31103816
2020-03-07 12:04:00 We identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family. 32066420
2020-03-07 11:54:00 There is coordinated action of myosin VI and CLCa at the apical surface where these proteins are essential for fission of clathrin-coated pits. Myosin VI and Huntingtin-interacting protein 1-related protein (Hip1R) are mutually exclusive interactors with CLCa, and suggest a model for the sequential function of myosin VI and Hip1R in actin-mediated clathrin-coated vesicle budding. 31672988

名称对应

Type IDs
Synonymous DFNA22, DFNB37
Gene
UniProtKB-ID: MYO6_HUMAN
UniprotKB: Q9UM54
UniParc: UPI0000EADF48, UPI0002423F1E, UPI0000EADF47, UPI00000727CF, UPI0000EADF49, UPI000012FB94
EMBL: AF229083, AF229103, AF229098, AF229085, AF229111, U90236, AF229107, AF229099, AF229093, AF229091, AF229082, AF229095, AF229086, AL109897, AF229089, AF229101, AF229102, AF229100, AF229092, AF229097, AB002387, BC146764, CH471051, AF229110, AF229109, AF229094, AF229104, AF229087, AF229090, AF229105, AF229108, AF229106, AF229084, AF229096, BP333853, AL136093, AF229088
Ensembl: ENSG00000196586
KO: hsa:4646
Nucleutide sequences
EMBL-CDS: EAW48731.1, AAK00229.1, AAI46765.1, BAA20843.2, AAC51654.2, EAW48730.1
Ensembl_TRS: ENST00000369985, ENST00000369977, ENST00000615563
Protein sequencees
Ensembl_PRO: ENSP00000359002, ENSP00000478013, ENSP00000358994
RefSeq: NP_001355795.1, NP_001355794.1, NP_001355067.1, XP_005248778.1, NP_004990.3, NP_001287828.1, NP_001355066.1, XP_024302215.1, XP_005248781.1, NP_001355068.1, NP_001355065.1, NP_001355069.1, XP_016866388.1, XP_005248779.1
Others
UniRef100: UniRef100_Q9UM54
UniRef90: UniRef90_Q9UM54
UniRef50: UniRef50_Q9UM54
UniGene: Hs.149387
CCDS: CCDS75481.1, CCDS34487.1

全选

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研究热度

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