Recombinant Human Ataxin-7 (ATXN7), partial

Function

Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Probably involved in tethering the deubiquitination module within the SAGA complex (PubMed:24493646). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762). Involved in neurodegeneration (PubMed:9288099)

Subcellular Location

Cytoplasm

Disease Association

Spinocerebellar ataxia 7 (SCA7) : Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

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)

Subunit

Component of the SAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7 (PubMed:15932940, PubMed:18206972). The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22 (PubMed:15932940, PubMed:18206972). Interacts with SORBS1, PSMC1 and CRX (PubMed:11371513, PubMed:11734547). Interacts with TRRAP, GCN5L2 and TAF10 (PubMed:15115762). Interacts with alpha tubulin (PubMed:22100762)

• David G. et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. — Nat. Genet. (1997)
• Del-Favero J. et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. — Hum. Mol. Genet. (1998)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Muzny D.M. et al. The DNA sequence, annotation and analysis of human chromosome 3. — Nature (2006)
• Einum D.D. et al. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. — Arch. Neurol. (2003)
• Kaytor M.D. et al. Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. — Hum. Mol. Genet. (1999)
• Lebre A.-S. et al. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. — Hum. Mol. Genet. (2001)
• Matilla A. et al. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. — Hum. Mol. Genet. (2001)