PQBP1 Products

Description

PQBP1, also known as Polyglutamine-binding protein 1, is a nuclear polyglutamine-binding protein that may play a role in apoptosis and DNA replication. Ten isoforms of PQBP1 have been identified which are produced by alternative splicing. The canonical sequence, referred to as PQBP-1, is 265 amino acids long and approximately 30kdA. PQBP1 may be implicated in an x-linked mental retardation syndrome called Renpenning syndrome 1 (RENS1), as well as neurodegenerative diseases, coloboma, spastic diplegia, ataxia and neuronitis. PQBP1 has also been shown to interact with C14orf1, MED31, WBP11, CLTB, and SF3A2.

Bioinformatics

Entrez	10084 Human
Uniprot	AAH12358 Human NM_005710 Human NP_001027553 Human NP_001027553.1 Human NP_001027554 Human NP_001027555 Human NP_001027556 Human NP_005701 Human O60828 Human
Product By Gene ID	10084
Alternate Names	38 kDa nuclear protein containing a WW domain MRX55 MRXS3 MRXS8 Npw38 NPW38mental retardation, X-linked 55 nuclear protein containing WW domain 38 kD polyglutamine binding protein 1 Polyglutamine tract-binding protein 1 polyglutamine-binding protein 1 PQBP-1 RENS1 SHS Sutherland-Haan X-linked mental retardation syndrome