Gene
c3b.1
- ID
- ZDB-GENE-030131-2211
- Name
- complement component c3b, tandem duplicate 1
- Symbol
- c3b.1 Nomenclature History
- Previous Names
-
- c3.7 (1)
- si:dkey-21e7.2
- wu:fb99g02
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have endopeptidase inhibitor activity. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Is expressed in brain; gill; liver; pleuroperitoneal region; and post-vent region. Orthologous to human C3 (complement C3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| age related macular degeneration 9 | Alliance | {Macular degeneration, age-related, 9} | 611378 |
| complement component 3 deficiency | Alliance | C3 deficiency | 613779 |
| {Hemolytic uremic syndrome, atypical, susceptibility to, 5} | 612925 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR047565 | Alpha-macroglobulin-like, thiol-ester bond-forming region |
| Domain | IPR000020 | Anaphylatoxin/fibulin |
| Domain | IPR001134 | Netrin domain |
| Domain | IPR001599 | Alpha-2-macroglobulin |
| Domain | IPR002890 | Macroglobulin domain |
| Domain | IPR009048 | Alpha-macroglobulin, receptor-binding |
| Domain | IPR011625 | Alpha-2-macroglobulin, bait region domain |
| Domain | IPR011626 | Alpha-macroglobulin-like, TED domain |
| Domain | IPR018933 | Netrin module, non-TIMP type |
| Domain | IPR040839 | Macroglobulin domain MG4 |
| Domain | IPR041425 | Complement C3/4/5, macroglobulin domain MG1 |
| Domain | IPR041555 | Macroglobulin domain MG3 |
| Domain | IPR048848 | Complement component 3, CUB domain, second segment |
| Family | IPR050473 | Alpha-2-macroglobulin/Complement system |
| Homologous_superfamily | IPR008930 | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid |
| Homologous_superfamily | IPR008993 | Tissue inhibitor of metalloproteinases-like, OB-fold |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR018081 | Anaphylatoxin, complement system |
| Homologous_superfamily | IPR036595 | Alpha-macroglobulin, receptor-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Alpha-2-macroglobulin | Alpha-2-macroglobulin, bait region domain | Alpha-2-macroglobulin/Complement system | Alpha-macroglobulin-like, TED domain | Alpha-macroglobulin-like, thiol-ester bond-forming region | Alpha-macroglobulin, receptor-binding | Alpha-macroglobulin, receptor-binding domain superfamily | Anaphylatoxin, complement system | Anaphylatoxin/fibulin | Complement C3/4/5, macroglobulin domain MG1 | Complement component 3, CUB domain, second segment | Immunoglobulin E-set | Immunoglobulin-like fold | Macroglobulin domain | Macroglobulin domain MG3 | Macroglobulin domain MG4 | Netrin domain | Netrin module, non-TIMP type | Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid | Tissue inhibitor of metalloproteinases-like, OB-fold |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A5PMP6
|
1680 | ||||||||||||||||||||
|
UniProtKB:A0A8M3B5N7
|
1768 | ||||||||||||||||||||
|
UniProtKB:A0A8M9PDW4
|
1719 | ||||||||||||||||||||
|
UniProtKB:A0A8M2BLB5
|
1746 |
Interactions and Pathways
No data available
Plasmids
No data available