Gene
pum1
- ID
- ZDB-GENE-030131-2074
- Name
- pumilio RNA-binding family member 1
- Symbol
- pum1 Nomenclature History
- Previous Names
-
- fb96a03
- si:ch211-285e16.1
- wu:fb96a03
- wu:fb96a08
- zgc:63671
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have mRNA 3'-UTR binding activity. Predicted to be involved in production of miRNAs involved in gene silencing by miRNA and regulation of mRNA stability. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in cerebellar ataxia type 47. Orthologous to human PUM1 (pumilio RNA binding family member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| cerebellar ataxia type 47 | Alliance | Spinocerebellar ataxia 47 | 617931 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 620719 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | Pumilio homology domain | Pumilio, RNA binding domain | Pumilio RNA-binding repeat |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IWL6
|
1152 | |||||
|
UniProtKB:S6B5C2
|
1152 | |||||
|
UniProtKB:Q7SXY5
|
540 |
Interactions and Pathways
No data available
Plasmids