InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PQBP1

Summary

InnateDB Protein

IDBP-64351.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PQBP1

Protein Name

polyglutamine binding protein 1

Synonyms

MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS;

Species

Homo sapiens

Ensembl Protein

ENSP00000365750

InnateDB Gene

IDBG-64349 (PQBP1)

Protein Structure

UniProt Annotation

Function

Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (PubMed:23512658). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029, ECO:0000269PubMed:12062018, ECO:0000269PubMed:20410308, ECO:0000269PubMed:23512658}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029, ECO:0000269PubMed:12062018, ECO:0000269PubMed:23512658}. Nucleus speckle {ECO:0000250}. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2. Colocalized with ATXN1 in nuclear inclusion bodies. {ECO:0000250}.

Disease Associations

Renpenning syndrome 1 (RENS1) [MIM:309500]: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. {ECO:0000269PubMed:14634649, ECO:0000269PubMed:16740914}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. {ECO:0000269PubMed:10198427, ECO:0000269PubMed:10332029}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.

Experimentally validated
Total	45 [view]
Protein-Protein	44 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0043021	ribonucleoprotein complex binding

Biological Process

GO:0000380	alternative mRNA splicing, via spliceosome
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0031175	neuron projection development
GO:0043484	regulation of RNA splicing
GO:0045087	innate immune response (InnateDB)