Gene
puraa
- ID
- ZDB-GENE-040624-8
- Name
- purine-rich element binding protein Aa
- Symbol
- puraa Nomenclature History
- Previous Names
-
- pura
- pur-alpha (1)
- zgc:103411
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Enables double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within cell differentiation; negative regulation of DNA-templated transcription; and regulation of cell population proliferation. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 31. Orthologous to human PURA (purine rich element binding protein A).
- 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:103411 (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 |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 31 | Alliance | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties | 616158 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR006628 | Purine-rich element binding protein family |
Domain Details Per Protein
| Protein | Length | Purine-rich element binding protein family |
|---|---|---|
|
UniProtKB:Q6JIZ2
|
287 |
Interactions and Pathways
No data available
Plasmids
No data available