ataxin-7; spinocerebellar ataxia type 7 protein (ATXN7, SCA7)

Function

• component of the STAGA transcription coactivator-HAT complex
• mediates interaction of STAGA complex with the CRX
• involved in CRX-dependent gene activation
• proteolytically cleaved (see Pathology)

Structure

• belongs to the ataxin-7 family
• contains 1 SCA7 domain

Compartment

• nucleus, nucleolus, nuclear matrix
• isoform b: cytoplasm

Alternative splicing

named isoforms=2; ataxin-7a, ataxin-7b

Expression

• isoform a & isoform b are expressed in CNS,
• isoform a is expressed predominantly in peripheral tissues
• isoform b is highly expressed in the frontal lobe, skeletal muscle & spinal cord; expressed at a lower level in the lung, lymphoblast & intestine

Pathology

• may play role in neurodegeneration
• CAG repeat expansion in the gene for ATXN7 are the cause of spinocerebellar ataxia type 7; cleavage of ATXN7 protein may be involved

Polymorphism

• the poly-Gln region of ATXN7 is highly polymorphic; 4-18 repeats in the normal population, expanded to ~ 38-130 repeats in spinocerebellar ataxia type 7 patients
• intermediate alleles with 28-35 repeats are prone to further expansion

More general terms

• ataxin

Additional terms

• ataxin-7-like protein 1 (ATXN7L1, KIAA1218)
• ataxin-7-like protein 2 (ATXN7L2)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6314
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6314
• OMIM: https://mirror.omim.org/entry/164500
• OMIM: https://mirror.omim.org/entry/607640
• UniProt: http://www.uniprot.org/uniprot/O15265.html