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HUMAN:ATX7
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | ATXN7 (synonyms: SCA7) | |
| Protein Name(s) | Ataxin-7
Spinocerebellar ataxia type 7 protein | |
| External Links | ||
| UniProt | O15265 | |
| EMBL | AJ000517 AF032102 AF032103 AF032105 AK304062 AC012557 AC104162 AA398030 | |
| CCDS | CCDS43102.1 CCDS46861.2 CCDS54603.1 | |
| PIR | T09193 | |
| RefSeq | NP_000324.1 NP_001121621.2 NP_001170858.1 | |
| UniGene | Hs.476595 | |
| PDB | 2KKR | |
| PDBsum | 2KKR | |
| ProteinModelPortal | O15265 | |
| SMR | O15265 | |
| BioGrid | 112221 | |
| IntAct | O15265 | |
| MINT | MINT-2862470 | |
| STRING | 9606.ENSP00000381590 | |
| PhosphoSite | O15265 | |
| MaxQB | O15265 | |
| PaxDb | O15265 | |
| PRIDE | O15265 | |
| DNASU | 6314 | |
| Ensembl | ENST00000295900 ENST00000484332 ENST00000487717 ENST00000538065 | |
| GeneID | 6314 | |
| KEGG | hsa:6314 | |
| UCSC | uc003dlv.3 uc011bfn.2 uc021wzy.1 | |
| CTD | 6314 | |
| GeneCards | GC03P063825 | |
| GeneReviews | ATXN7 | |
| HGNC | HGNC:10560 | |
| HPA | HPA034989 | |
| MIM | 164500 607640 | |
| neXtProt | NX_O15265 | |
| Orphanet | 94147 | |
| PharmGKB | PA34973 | |
| eggNOG | NOG270433 | |
| GeneTree | ENSGT00530000063215 | |
| HOGENOM | HOG000252910 | |
| HOVERGEN | HBG004320 | |
| InParanoid | O15265 | |
| KO | K11318 | |
| OMA | NSTNCHN | |
| OrthoDB | EOG7XSTDP | |
| PhylomeDB | O15265 | |
| TreeFam | TF331337 | |
| Reactome | REACT_172610 | |
| ChiTaRS | ATXN7 | |
| EvolutionaryTrace | O15265 | |
| GenomeRNAi | 6314 | |
| NextBio | 24505 | |
| PMAP-CutDB | O15265 | |
| PRO | PR:O15265 | |
| Proteomes | UP000005640 | |
| Bgee | O15265 | |
| CleanEx | HS_ATXN7 | |
| ExpressionAtlas | O15265 | |
| Genevestigator | O15265 | |
| GO | GO:0005737 GO:0015630 GO:0016363 GO:0005634 GO:0003682 GO:0006325 GO:0016578 GO:0000226 GO:0043569 GO:0042326 GO:0006997 GO:0045944 GO:0006351 GO:0007601 | |
| InterPro | IPR013243 IPR015880 | |
| Pfam | PF08313 | |
| SMART | SM00355 | |
| PROSITE | PS51505 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| GO:0007026 |
negative regulation of microtubule depolymerization |
ECO:0000315 |
P |
HeLa cells express Ataxin-7 endogenously. In figure 5, HeLa cell strains expressing either wild type and mutant Ataxin-7 protein were treated with noncodazole, an inhibitor of cytoskeletal microtubule polymerization. Cells with wild type Ataxin-7 maintained the normal filamentous pattern of cytoskeletal microtubule organization, while Ataxin-7 mutants showed loss of the filamentous microtubule organization.
|
complete | |||||
|
involved_in |
GO:0016578 |
histone deubiquitination |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0015630 |
microtubule cytoskeleton |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0000226 |
microtubule cytoskeleton organization |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007601 |
visual perception |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006997 |
nucleus organization |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0016579 |
protein deubiquitination |
Reactome:R-HSA-5688426 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005654 |
nucleoplasm |
Reactome:R-HSA-5690080 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005730 |
nucleolus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016363 |
nuclear matrix |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 Nakamura, Y et al. (2012) Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. Hum. Mol. Genet. 21 1099-110 PubMed GONUTS page
- ↑ Zhao, Y et al. (2008) A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. Mol. Cell 29 92-101 PubMed GONUTS page
- ↑ David, G et al. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 17 65-70 PubMed GONUTS page
- ↑ 4.0 4.1 Kaytor, MD et al. (1999) Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Hum. Mol. Genet. 8 1657-64 PubMed GONUTS page
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