Description
Product Characteristics:
Polyglutamine(Q) tract binding protein-1 (PQBP-1) is a transcription repressor that associates with polyglutamine tract-containing transcription regulators and causative genes for neurodegenerative disorders. Hepta- and di-amino acid repeat sequences rich in polar residues are essential for PQBP-1 to interact with polyglutamine tract-containing proteins (i.e. huntingtin, androgen receptor and Brain-2). PQBP-1 contains a WWP/WW domain that binds proline-rich motifs and a C2 domain that can influence Ca2+-dependent phospholipid signaling. PQBP-1 localizes to the nucleus and is present in neurons throughout the brain, with abundant levels in hippocampus, cerebellar cortex and olfactory bulb. The human PQBP-1 gene maps to chromosome Xp11.23.
Subcellular location: Nucleus
Synonyms: 38 kDa nuclear protein containing a WW domain, Mental retardation, X linked 55, MRX55, MRXS3, MRXS8, Npw38, Nuclear protein containing WW domain 38 kD, Polyglutamine binding protein 1, Polyglutamine tract binding protein 1, Polyglutamine tract-binding protein 1, Polyglutamine-binding protein 1, PQBP 1, PQBP-1, PQBP1, PQBP1_HUMAN, RENS1, SHS, Sutherland Haan X linked mental retardation syndrome.
Target Information: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]