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
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR018114 | Serine proteases, trypsin family, histidine active site |
| Active_site | IPR033116 | Serine proteases, trypsin family, serine active site |
| Domain | IPR001190 | SRCR domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Domain | IPR003884 | Factor I / membrane attack complex |
| Domain | IPR048719 | Complement factor I, KAZAL domain |
| Domain | IPR048722 | Complement factor I, FIMAC N-terminal domain |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
| Family | IPR050127 | Serine Proteases (Peptidase S1 Family) |
| Homologous_superfamily | IPR009003 | Peptidase S1, PA clan |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| Homologous_superfamily | IPR036772 | SRCR-like domain superfamily |
| Homologous_superfamily | IPR043504 | Peptidase S1, PA clan, chymotrypsin-like fold |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement factor I, FIMAC N-terminal domain | Complement factor I, KAZAL domain | Factor I / membrane attack complex | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A repeat | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine Proteases (Peptidase S1 Family) | Serine proteases, trypsin domain | Serine proteases, trypsin family, histidine active site | Serine proteases, trypsin family, serine active site | SRCR domain | SRCR-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6YYY8 | InterPro | 714 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance