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375611 SLC26A5

375611

SLC26A5

solute carrier family 26 member 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 26 member 5

研究结论

Date Results Publications
2020-10-24 14:01:00 Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function. 31053797
2019-07-20 11:20:00 prestin itself is the main regulator of intracellular chloride concentration via a route distinct from its transporter pathway. 28422190
2019-01-19 10:56:00 extracellular loop of pendrin and prestin modulates their voltage-sensing property 29777056
2018-02-03 11:14:00 Our study thus provides experimental evidence that supports a causal relationship between the R130S mutation in the prestin gene and hearing loss found in patients with this missense mutation. 27041369
2016-12-24 11:47:00 Prestin expression imparts susceptibility to 2-hydroxypropyl-beta-cyclodextrin-induced hearing loss. 26903308

名称对应

Type IDs
Synonymous DFNB61, PRES
Gene
UniProtKB-ID: S26A5_HUMAN
UniprotKB: P58743
UniParc: UPI000019A25F, UPI000019A25E, UPI000019C82E, UPI0000132195, UPI000019A25D, UPI00003674FE
EMBL: AC004668, BC100833, AF523354, AC005064, AY256824, AC093701, AY256823, AY256825, AY289134
Ensembl: ENSG00000170615
KO: hsa:375611
Nucleutide sequences
EMBL-CDS: AAP31533.1, AAP43686.1, AAI00834.1, AAP31532.1, AAP31417.1, AAP31534.1
Ensembl_TRS: ENST00000306312, ENST00000339444, ENST00000393735, ENST00000432958, ENST00000393723, ENST00000393730, ENST00000356767
Protein sequencees
Ensembl_PRO: ENSP00000377324, ENSP00000377336, ENSP00000377331, ENSP00000389733, ENSP00000342396, ENSP00000349210, ENSP00000304783
RefSeq: NP_996767.1, NP_945350.1, XP_011514472.1, NP_001161434.1, NP_001308716.1, NP_996766.1, NP_996768.1
Others
UniRef100: UniRef100_P58743
UniRef90: UniRef90_P58743
UniRef50: UniRef50_Q9EPH0
UniGene: Hs.585146
CCDS: CCDS5733.1, CCDS43629.1, CCDS55150.1, CCDS5732.1, CCDS43630.1

全选

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研究热度

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