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polyglutamine-binding protein 1; polyglutamine tract-binding protein 1; PQBP-1; 38 kD nuclear protein containing a WW domain; Npw38 (PQBP1, NPW38, JM26)
Function:
1) suppresses transactivation DRD1 gene by POU3F2
2) can activate transcription directly or via association with the transcription machinery
3) interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HD & AR
4) interaction with ATXN1 correlates positively with length of the polyglutamine tract
5) interacts with phosphorylated RNA polymerase 2 large subunit
6) 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:
1) ATXN1 mutant-induced cell death
a) forms a ternary complex with ATXN1 mutant & phosphorylated RNA polymerase 2
b) interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase 2 large subunit.
2) defects in PQBP1 result in Renpenning syndrome 1
General
other protein
Properties
SIZE: MW = 30 kD
entity length = 265 aa
COMPARTMENT: cell nucleus
MOTIF: WW domain (W/rsp5/WWP domain) {46-80}
coiled coil {84-109}
D-R-[SG]-H-D-K-S {104-110}
domain {104-138}
MOTIF: D-R-[SG]-H-D-K-S {111-117}
D-R-[SG]-H-D-K-S {118-124}
D-R-[SG]-H-D-K-S {125-131}
D-R-[SG]-H-D-K-S {132-138}
consensus repeat {139-140}
[DE]-R {139-144}
arginine-rich region {140-181}
MOTIF: arginine residue (SEVERAL)
[DE]-R {141-142}
[DE]-R {143-144}
[DE]-R {150-151}
domain {150-163}
[DE]-R {152-153}
[DE]-R {154-155}
[DE]-R {156-157}
[DE]-R {158-159}
[DE]-R {160-161}
[DE]-R {162-163}
Database Correlations
OMIM correlations
UniProt O60828
Pfam PF00397
References
- UniProt :accession O60828
- GeneReviews;
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PQBP1
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RENS1