PQBP1 Gene Summary [Human]
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 cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | PQBP1 |
| Official Name | polyglutamine binding protein 1 [Source:HGNC Symbol;Acc:HGNC:9330] |
| Ensembl ID | ENSG00000102103 |
| Bio databases IDs | |
| Aliases | polyglutamine binding protein 1 |
| Synonyms | LOC631302, MRX2, MRX55, MRXS3, MRXS8, NPW38, polyglutamine binding protein 1, QBP1, RENS1, Sfc2, SHS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PQBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Domain with 2 conserved Trp (W) residues
- transcription co-activator
- double-stranded DNA binding
- polar amino acid rich domain
- WW
- ribonucleoprotein binding
- enzyme binding
- protein binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- Sutherland-Haan syndrome
- X-linked mental retardation
- mental retardation
- microcephaly
- pervasive developmental disorder
role in cell
- apoptosis
- elongation in
- synthesis in
- assembly
- alternative splicing by
- nuclear import in
- alternative splicing in
- morphogenesis
- dipeptide repeat protein sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- microtubule cytoskeleton
- cytoplasmic ribonucleoprotein granule
- Cytoplasm
- cilia
- basal bodies
- centrosome
- cytosol
- nucleoplasm
- nuclear speckles
- stress granule
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PQBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron projection development
- positive regulation of type I interferon production
- regulation of transcription, DNA-dependent
- positive regulation of defense response to virus by host
- regulation of dendrite morphogenesis
- cellular response to exogenous dsRNA
- positive regulation of transcription, DNA-dependent
- activation of innate immune response
- alternative nuclear mRNA splicing, via spliceosome
- innate immune response
- regulation of RNA splicing
- defense response to virus
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasmic stress granule
- cytoplasm
- nuclear speck
- neuronal ribonucleoprotein granule
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- transcription coactivator activity
- ribonucleoprotein complex binding
- double-stranded DNA binding