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1822 ATN1

1822

ATN1

atrophin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition atrophin 1

研究结论

Date Results Publications
2019-12-21 11:09:00 Variants Disrupting the HX Repeat Motif of ATN1 Cause a Non-Progressive Neurocognitive Syndrome. 30827498
2017-01-14 11:10:00 Data indicate that the size of the expanded CAG repeats od dentatorubral-pallidoluysian atrophy protein (DRPLA) was inversely correlated with the age at onset. 27577205
2015-10-03 10:56:00 Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance. 25519973
2015-07-25 11:13:00 Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. 25398822
2014-09-13 12:40:00 These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes. 24981774

名称对应

Type IDs
Synonymous B37, D12S755E, DRPLA, HRS, NOD
Gene
UniProtKB-ID: ATN1_HUMAN, Q86V38_HUMAN
UniprotKB: P54259, Q86V38
UniParc: UPI000006F554, UPI000019272A
EMBL: U23851, BC051795, U47924, D38529, D31840, D63808
Ensembl: ENSG00000111676
KO: hsa:1822
Nucleutide sequences
EMBL-CDS: BAA06626.1, BAA23631.1, BAA07534.1, AAB51321.1, AAB50276.1, AAH51795.1
Ensembl_TRS: ENST00000396684, ENST00000356654
Protein sequencees
Ensembl_PRO: ENSP00000379915, ENSP00000349076
RefSeq: NP_001931.2, NP_001007027.1
Others
UniRef100: UniRef100_P54259, UniRef100_Q86V38
UniRef90: UniRef90_P54259
UniRef50: UniRef50_P54259
UniGene: Hs.143766
CCDS: CCDS31734.1

全选

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