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53904 MYO3A

53904

MYO3A

myosin IIIA

protein-coding

Homo sapiens

基因描述

Type Description
Definition myosin IIIA

研究结论

Date Results Publications
2019-10-12 12:02:00 Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. 29880844
2017-05-27 10:19:00 MYO3A is more efficient than MYO3B at increasing formation and elongation of stable microvilli on the surface of cultured epithelial cells. 27582493
2017-01-14 11:17:00 The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism. 26785147
2016-12-31 10:10:00 Study reports an amino acid substitution in MYO3A motor-head domain disrupting its ATPase activity that can cause autosomal dominant progressive hereditary hearing loss. Also, these results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips. 26841241
2016-12-17 10:39:00 A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for non-syndromic congenital deafness in two members of a Kazakh family in China. 27063751

名称对应

Type IDs
Synonymous DFNB30
Gene
UniProtKB-ID: MYO3A_HUMAN
UniprotKB: Q8NEV4
UniParc: UPI000014140A, UPI00001F9050
EMBL: BC036079, AL391812, AY101367, AL358612, AF229172, AL360217, AL162503
Ensembl: ENSG00000095777
KO: hsa:53904
Nucleutide sequences
EMBL-CDS: AAF70861.1, AAM34500.1, AAH36079.1
Ensembl_TRS: ENST00000376302, ENST00000642920
Protein sequencees
Ensembl_PRO: ENSP00000365479, ENSP00000495965
RefSeq: XP_011517807.1, XP_011517808.1, XP_011517805.1, XP_011517804.1, XP_011517802.1, NP_001355194.1, XP_011517801.1, XP_011517815.1, NP_059129.3, XP_011517806.1, XP_011517810.1, XP_011517800.1, XP_011517814.1, XP_011517813.1, XP_011517812.1
Others
UniRef100: UniRef100_Q8NEV4
UniRef90: UniRef90_Q8NEV4
UniRef50: UniRef50_Q8NEV4
UniGene: Hs.662630
CCDS: CCDS7148.1

全选

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