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
- Exhibits double-stranded DNA binding activity. Predicted to be involved in cell differentiation; negative regulation of transcription, DNA-templated; and regulation of cell population proliferation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 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