Gene
fcho1
- ID
- ZDB-GENE-120613-1
- Name
- FCH and mu domain containing endocytic adaptor 1
- Symbol
- fcho1 Nomenclature History
- Previous Names
-
- unm_sa2424
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within BMP signaling pathway; convergent extension involved in axis elongation; and dorsal/ventral pattern formation. Located in plasma membrane. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human FCHO1 (FCH and mu domain containing endocytic adaptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Umasankar et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Umasankar et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Immunodeficiency 76 | 619164 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | AH/BAR domain superfamily | F-BAR domain | FCH domain | FCHO1, F-BAR domain | GMIP/FCHO2-like, FCH domain | Mu homology domain | Muniscin, C-terminal |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7FBF7 | InterPro | 897 | |||||||
UniProtKB:A0A8M9Q3U1 | InterPro | 1126 | |||||||
UniProtKB:A0A8M3B1Y3 | InterPro | 1152 | |||||||
UniProtKB:A0A8M9PRB3 | InterPro | 1127 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance