Gene
cfbl
- ID
- ZDB-GENE-030131-2319
- Name
- complement factor b, like
- Symbol
- cfbl Nomenclature History
- Previous Names
-
- fc04c04
- wu:fc04c04
- zgc:158446 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase activity. Acts upstream of or within response to bacterium. Predicted to be located in extracellular region. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Orthologous to human CFB (complement factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Meijer et al., 2005
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa6676 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9654 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12079 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43662 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR018114 | Serine proteases, trypsin family, histidine active site |
| Domain | IPR000436 | Sushi/SCR/CCP domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Domain | IPR002035 | von Willebrand factor, type A |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Complement B/C2 | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, histidine active site | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A2VD28 | InterPro | 751 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-197A18 | ZFIN Curated Data | |
| Encodes | EST | fc04c04 | ||
| Encodes | cDNA | MGC:158446 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001083858 (1) | 2556 nt | ||
| Genomic | GenBank:CR381637 (1) | 171229 nt | ||
| Polypeptide | UniProtKB:A2VD28 (1) | 751 aa |