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6310 ATXN1

6310

ATXN1

ataxin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ataxin 1

研究结论

Date Results Publications
2021-04-17 13:16:00 miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. 32763910
2021-01-16 15:53:00 5'UTR-mediated regulation of Ataxin-1 expression. 31381977
2019-12-21 12:06:00 Repeat polymorphisms in ATXN1 can act as an important genetic modifier of AD. 30314815
2019-07-27 12:06:00 This study enrolled a Chinese SCA1 pedigrees and identified 35 CAG repeats within the ATXN1 gene, which may be the shortest pathogenic allele of SCA1. 30391819
2019-03-30 12:32:00 we also found that brain-region-specific differences occur early in disease initiation and progression, and they are shared across the two mouse models of SCA1. This suggests different mechanisms of degeneration at work in the inferior olive and cerebellum 30507379

名称对应

Type IDs
Synonymous ATX1, D6S504E, SCA1
Gene
UniProtKB-ID: ATX1_HUMAN, Q96FF1_HUMAN
UniprotKB: P54253, Q96FF1
UniParc: UPI0000073B83, UPI000013CB8B
EMBL: S82497, AL009031, X79204, BC011026, BC117125
Ensembl: ENSG00000124788
KO: hsa:6310
Nucleutide sequences
EMBL-CDS: AAD14401.1, CAA55793.1, AAI17126.1, AAH11026.1
Ensembl_TRS: ENST00000436367, ENST00000244769
Protein sequencees
Ensembl_PRO: ENSP00000416360, ENSP00000244769
RefSeq: NP_001344786.1, NP_001121636.1, NP_000323.2
Others
UniRef100: UniRef100_P54253, UniRef100_Q96FF1
UniRef90: UniRef90_P54253, UniRef90_Q96FF1
UniRef50: UniRef50_P54253, UniRef50_L5KU28
UniGene: Hs.434961
CCDS: CCDS34342.1

全选

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研究热度

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