polyglutamine-binding protein 1; polyglutamine tract-binding protein 1; PQBP-1; 38 kD nuclear protein containing a WW domain; Npw38 (PQBP1, NPW38, JM26)

Function

• suppresses transactivation DRD1 gene by POU3F2
• can activate transcription directly or via association with the transcription machinery
• interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HD & AR
• interaction with ATXN1 correlates positively with length of the polyglutamine tract
• interacts with phosphorylated RNA polymerase 2 large subunit
• co-localizes with POU3F2 & with ATXN1 in nuclear inclusion bodies

Structure

• WW domain may play a role as transcriptional activator; mediates interaction with C-terminal domain (CTD) of RNA polymerase 2 large subunit

Compartment

nucleus

Alternative splicing

named isoforms=10

Expression

• widely expressed
• highly expressed in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine, peripheral blood leukocytes

Pathology

• ATXN1 mutant-induced cell death
  • forms a ternary complex with ATXN1 mutant & phosphorylated RNA polymerase 2
  • interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase 2 large subunit.
• defects in PQBP1 result in Renpenning syndrome 1

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/300463
• OMIM: https://mirror.omim.org/entry/309500
• UniProt: http://www.uniprot.org/uniprot/O60828.html