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6314 ATXN7

6314

ATXN7

ataxin 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition ataxin 7

研究结论

Date Results Publications
2020-10-24 14:05:00 Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates alpha-helix formation of the polyQ tract but suppresses its aggregation. 31097749
2019-08-03 13:08:00 the SUMO pathway contributes to the clearance of aggregated ATXN7 and suggest that its deregulation might be associated with SCA7 disease progression. 30559154
2018-05-26 10:20:00 Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7). 28645341
2018-04-07 11:15:00 we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression. 28585930
2018-01-13 14:21:00 The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion. 28597910

名称对应

Type IDs
Synonymous ADCAII, OPCA3, SCA7, SGF73
Gene
UniProtKB-ID: ATX7_HUMAN, Q9UPD8_HUMAN
UniprotKB: O15265, Q9UPD8
UniParc: UPI0001D0434E, UPI000006EB81, UPI00001B07C4, UPI0000126640
EMBL: AK304062, AF032104, AA398030, AC104162, AC012557, AF032102, AJ000517, AF032105, AF032103
Ensembl: ENSG00000163635
KO: hsa:6314
Nucleutide sequences
EMBL-CDS: AAC19162.1, BAG64969.1, CAA04154.1, AAC19163.1, AAC39765.1, AAC19164.1
Ensembl_TRS: ENST00000538065, ENST00000674280, ENST00000295900, ENST00000484332, ENST00000487717, ENST00000522345
Protein sequencees
Ensembl_PRO: ENSP00000428277, ENSP00000428067, ENSP00000439585, ENSP00000501377, ENSP00000295900, ENSP00000420234
RefSeq: NP_001364334.1, NP_000324.1, NP_001170858.1, NP_001364335.1, NP_001121621.2
Others
UniRef100: UniRef100_O15265, UniRef100_Q9UPD8
UniRef90: UniRef90_G1RM80, UniRef90_O15265
UniRef50: UniRef50_O15265
UniGene: Hs.476595
CCDS: CCDS54603.1, CCDS46861.2, CCDS43102.1

全选

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