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ataxin-7
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. Belongs to the ataxin-7 family. 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. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Nucleolus; Transcription regulation |
| Chromosomal Location of human Ortholog: 3p14.1 |
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Cellular Component:
cytosol; microtubule cytoskeleton; nuclear matrix; nucleolus; nucleoplasm; nucleus
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Molecular Function:
protein binding
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Biological Process:
histone deubiquitination; microtubule cytoskeleton organization; nucleus organization; protein deubiquitination; visual perception
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Disease: Spinocerebellar Ataxia 7
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Reference #:
O15265
(UniProtKB)
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Alt. Names/Synonyms: ADCAII; ataxin 7; Ataxin-7; ATX7; ATXN7; FLJ17787; OPCA3; SCA7; SGF73; Spinocerebellar ataxia type 7 protein
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Gene Symbols: ATXN7
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Molecular weight:
95,451 Da
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Basal Isoelectric point:
9.89
Predict pI for various phosphorylation states
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