ATXN3 (ataxin 3)

2003-12-01  

Identity

HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
AT3,ATX3,JOS,MJD,MJD1,SCA3
FUSION GENES

Other Information

Locus ID:

NCBI: 4287
MIM: 607047
HGNC: 7106
Ensembl: ENSG00000066427

Variants:

dbSNP: 4287
ClinVar: 4287
TCGA: ENSG00000066427
COSMIC: ATXN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066427ENST00000340660P54252
ENSG00000066427ENST00000359366D3VVP3
ENSG00000066427ENST00000393287A0A0A0MS38
ENSG00000066427ENST00000429774C9JQV6
ENSG00000066427ENST00000502250P54252
ENSG00000066427ENST00000503767P54252
ENSG00000066427ENST00000506466E9PJN5
ENSG00000066427ENST00000515746D6R9I5
ENSG00000066427ENST00000526872S4R399
ENSG00000066427ENST00000532032P54252
ENSG00000066427ENST00000545170F5H211
ENSG00000066427ENST00000553488D3VVP3
ENSG00000066427ENST00000553491G3V4U9
ENSG00000066427ENST00000553570G3V3T0
ENSG00000066427ENST00000554350G3V390
ENSG00000066427ENST00000554592G3V3R7
ENSG00000066427ENST00000554672G3V3T6
ENSG00000066427ENST00000554673G3V5H3
ENSG00000066427ENST00000554994G3V4F5
ENSG00000066427ENST00000555381G3V328
ENSG00000066427ENST00000555816D3VVP3
ENSG00000066427ENST00000556082D3VVP3
ENSG00000066427ENST00000556220G3V2G1
ENSG00000066427ENST00000556274D3VVP3
ENSG00000066427ENST00000556288D3VVP3
ENSG00000066427ENST00000556315G3V3A6
ENSG00000066427ENST00000556374G3V3S5
ENSG00000066427ENST00000556671G3V4B1
ENSG00000066427ENST00000556898G3V4F4
ENSG00000066427ENST00000556958D6R9I5
ENSG00000066427ENST00000557030G3V526
ENSG00000066427ENST00000557311G3V2G2
ENSG00000066427ENST00000617719D3VVH9
ENSG00000066427ENST00000620536A0A087X1A8
ENSG00000066427ENST00000621269A0A087WXY4
ENSG00000066427ENST00000644486P54252
ENSG00000066427ENST00000646485A0A2R8Y888
ENSG00000066427ENST00000647161A0A2R8Y3X7

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Josephin domain DUBsREACTOMER-HSA-5689877

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184491882008RNA toxicity is a component of ataxin-3 degeneration in Drosophila.139
145597762003The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity.116
221136112011Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.112
185994822008The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.109
158085072005Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism.95
168228502006Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates.87
170008762006Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3.85
129444742003Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis.74
166248102006The two-stage pathway of ataxin-3 fibrillogenesis involves a polyglutamine-independent step.73
157675772005The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation.67

Citation

Dessen P

ATXN3 (ataxin 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41368/atxn3-(ataxin-3)