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. Predicted to be active in extracellular space. 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 | 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
|
714 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance