ATXN7 (ataxin 7)

2014-08-01  

Identity

HGNC
LOCATION
3p14.1
LOCUSID
ALIAS
ADCAII,OPCA3,SCA7,SGF73
FUSION GENES

Other Information

Locus ID:

NCBI: 6314
MIM: 607640
HGNC: 10560
Ensembl: ENSG00000285399

Variants:

dbSNP: 6314
ClinVar: 6314
TCGA: ENSG00000285399
COSMIC: ATXN7

RNA/Proteins

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

References

Pubmed IDYearTitleCitations
159329402005Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.94
151157622004Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.81
151157622004Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.81
198435412010SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.31
182162492008The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.29
220726782011Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.25
197896342009Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.24
210786242011Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.24
117095442001Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.23
248599682014The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.20

Citation

Dessen P

ATXN7 (ataxin 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54145/atxn7