| Gene Information | |
|---|---|
| Gene Name | SCA7 |
| Organism | Homo sapiens (Human) |
| Gene Length | 892 |
| Protein Names | Ataxin-7 (Spinocerebellar ataxia type 7 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O15265 |
| Gene Card | ATXN7 |
| Uniprot ID | O15265 |
| Pfam | PF08313 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | [Isoform a]: Isoform a is expressed in CNS, but is expressed predominantly in the peripherical tissues. {ECO:0000269|PubMed:12533095}.; [Isoform b]: Isoform b is expressed in CNS (PubMed:12533095). Also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine (PubMed:12533095). {ECO:0000269|PubMed:12533095}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2KKR (NMR - ) 7KTR (EM 2.93A ) 7KTS (EM 19.09A ) |
| DBSNP | rs1053338 rs3733124 rs1053340 rs3774729 |
| Subcellular location [CC] | [Isoform a]: Nucleus {ECO:0000269|PubMed:12533095, ECO:0000269|PubMed:16314424, ECO:0000269|PubMed:22100762}. Nucleus, nucleolus {ECO:0000269|PubMed:10441328}. Nucleus matrix {ECO:0000269|PubMed:10441328}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22100762}. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus (PubMed:10441328). It is able to shuttle between the nucleus and cytoplasm (PubMed:16314424). {ECO:0000269|PubMed:10441328, ECO:0000269|PubMed:16314424}.; [Isoform b]: Cytoplasm {ECO:0000269|PubMed:12533095}. |
| Mouse PG classification | NA |
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