Gene
fnip1
- ID
- ZDB-GENE-030131-3586
- Name
- folliculin interacting protein 1
- Symbol
- fnip1 Nomenclature History
- Previous Names
-
- fc45f03
- wu:fc45f03 (1)
- zgc:175140
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable ATPase inhibitor activity and chaperone binding activity. Predicted to be located in lysosomal membrane. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human FNIP1 (folliculin interacting protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 619705 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR028084 | Folliculin-interacting protein, N-terminal domain |
| Domain | IPR028085 | Folliculin-interacting protein, middle domain |
| Domain | IPR028086 | Folliculin-interacting protein, C-terminal domain |
| Domain | IPR037545 | Tripartite DENN domain, FNIP1/2-type |
| Family | IPR026156 | Folliculin-interacting protein family |
Domain Details Per Protein
| Protein | Length | Folliculin-interacting protein, C-terminal domain | Folliculin-interacting protein family | Folliculin-interacting protein, middle domain | Folliculin-interacting protein, N-terminal domain | Tripartite DENN domain, FNIP1/2-type |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QEV8
|
1060 | |||||
|
UniProtKB:A0A0R4IT71
|
1077 | |||||
|
UniProtKB:A0A0R4IV00
|
1049 |
Interactions and Pathways
No data available
Plasmids
No data available