Gene
pqbp1
- ID
- ZDB-GENE-030616-158
- Name
- polyglutamine binding protein 1
- Symbol
- pqbp1 Nomenclature History
- Previous Names
-
- pqbp1l
- si:dz150f13.4
- zgc:92646
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable ribonucleoprotein complex binding activity. Predicted to be involved in alternative mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing; innate immune response; and mRNA processing. Predicted to be located in nuclear speck. Predicted to be active in cytoplasm and nuclear body. Human ortholog(s) of this gene implicated in Renpenning syndrome. Orthologous to human PQBP1 (polyglutamine binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92646 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Renpenning syndrome | Alliance | Renpenning syndrome | 309500 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | WW domain | WW domain superfamily |
|---|---|---|---|
|
UniProtKB:Q6DH51
|
261 |
Interactions and Pathways
No data available
Plasmids
No data available