Gene
cfi
- ID
- ZDB-GENE-110922-7
- Name
- complement factor I
- Symbol
- cfi Nomenclature History
- Previous Names
-
- gb:ai721528 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase activity. Acts upstream of or within retinal blood vessel morphogenesis. Predicted to be located in extracellular region and membrane. Human ortholog(s) of this gene implicated in Kuhnt-Junius degeneration; age related macular degeneration 13; atypical hemolytic-uremic syndrome; complement factor I deficiency; and macular degeneration. Orthologous to human CFI (complement factor I).
- Genome Resources
-
- Alliance (1)
- Gene:557557 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lam et al., 2011
- Cross-Species Comparison
- High Throughput Data
-
- GEO (1) Expression Atlas (1) Single Cell Expression Atlas (1) Daniocell (1)
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from van de Ven et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| age related macular degeneration 13 | Alliance | {Macular degeneration, age-related, 13, susceptibility to} | 615439 |
| complement factor I deficiency | Alliance | Complement factor I deficiency | 610984 |
| {Hemolytic uremic syndrome, atypical, susceptibility to, 3} | 612923 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M6YYY8 | InterPro | 714 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance