| Gene Symbol |
ATXN7
|
| Entrez Gene |
6314
|
| Alt Symbol |
ADCAII, OPCA3, SCA7
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ataxin 7
|
| Other Description |
ataxin-7|spinocerebellar ataxia type 7 protein
|
| Swissprots |
Q9Y6P8 E9PHP9 B4E207 O75329 O75328 O15265
|
| Accessions |
AAB87863 AAC19162 AAL79807 EAW65422 EAW65423 O15265 AA398030 AF032103 AAC19163 AF032104 AAC19164 AF032105 AAC39765 AJ000517 CAA04154 AK125125 AK304062 BAG64969 AK310745 AL134602 BC166666 AAI66666 BI494079 BP220889 NM_000333 NP_000324 NM_001128149 NP_001121621 NM_001177387 NP_001170858
|
| Function |
Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. {ECO:0000269|PubMed:22100762}.
|
| Subcellular Location |
Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.
|
| Tissue Specificity |
Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is 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.
|