ATXN1
ATXN1 (ataxin 1, also known as ATX1, SCA1 and D6S504E) is a chromatin-binding factor that acts as a CBF1 corepressor to repress Notch signalling. Expansion of a CAG repeat in the ATXN1 gene is associated with spinocerebellar ataxia type 1. Browse Assay Genie's current range of ATXN1 research reagents below, or read on for the biology behind the target.
ATXN1 is a chromatin-binding factor that represses Notch signalling in the absence of the Notch intracellular domain by acting as a corepressor of CBF1. It binds the HEY promoter and may assist, together with NCOR2, RBPJ-mediated repression. The protein also binds RNA in vitro and may be involved in RNA metabolism. In concert with CIC and ATXN1L, it is involved in brain development.
Ataxin-1 belongs to the ATXN1 family (HGNC group: Ataxin 1 family) and is found in both the cytoplasm and the nucleus. The human ATXN1 gene maps to chromosome 6, and mouse and rat each have an orthologous Atxn1 gene. Alternative splicing produces multiple transcript variants, and one variant encodes two distinct proteins, ATXN1 and Alt-ATXN1, through the use of overlapping alternate reading frames.
The gene was originally named for the disease it causes: spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1). The autosomal dominant cerebellar ataxias are neurodegenerative disorders marked by progressive degeneration of the cerebellum, brain stem and spinal cord. Several SCA genes contain CAG repeats in their coding regions, and expansion of these repeats produces an elongated polyglutamine tract in the encoded protein. In ATXN1, the diseased allele carries 40-83 CAG repeats, compared with 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Such repeats are unstable and usually grow when passed to successive generations.
ATXN1 CAG repeat expansion and the resulting polyglutamine tract are associated with spinocerebellar ataxia type 1, a progressive neurodegenerative disorder.
ATXN1 acts as a CBF1 corepressor, repressing Notch signalling in the absence of the Notch intracellular domain.
ATXN1 binds the HEY promoter and may assist NCOR2 and RBPJ in mediating repression, making it a useful chromatin-binding factor to study.
Together with CIC and ATXN1L, ATXN1 is involved in brain development, and it may also contribute to RNA metabolism.
ATXN1 is a chromatin-binding factor that represses Notch signalling in the absence of the Notch intracellular domain by acting as a CBF1 corepressor. It binds the HEY promoter, may assist NCOR2 and RBPJ, binds RNA in vitro and works with CIC and ATXN1L in brain development.
ATXN1 is also known as ATX1, SCA1 and D6S504E, and was formerly named spinocerebellar ataxia 1. Alternative splicing gives multiple transcript variants, and one variant encodes two distinct proteins, ATXN1 and Alt-ATXN1, from overlapping alternate reading frames.
A CAG repeat expansion in ATXN1, 40-83 repeats versus 6-39 normally, produces an elongated polyglutamine tract and is associated with spinocerebellar ataxia type 1. Mouse and rat have orthologous Atxn1 genes; check the datasheet of any product for its validated reactivity.
Other ataxin proteins associated with spinocerebellar ataxias and polyglutamine expansion disorders.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P54253; product specifications from Assay Genie datasheets.