ZFIN is now using GRCz12tu for Genomic Data
Gene
c8a
- ID
- ZDB-GENE-040801-239
- Name
- complement component 8, alpha polypeptide
- Symbol
- c8a Nomenclature History
- Previous Names
-
- zgc:92465 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in complement activation. Predicted to be part of membrane attack complex. Predicted to be active in extracellular region. Is expressed in chondrocranium; cleithrum; and liver. Human ortholog(s) of this gene implicated in type I complement component 8 deficiency. Orthologous to human C8A (complement C8 alpha chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92465 (9 images)
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 |
|---|---|---|---|
| type I complement component 8 deficiency | Alliance | C8 deficiency, type I | 613790 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020863 | Membrane attack complex component/perforin domain, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR020864 | Membrane attack complex component/perforin (MACPF) domain |
| Domain | IPR048831 | Complement components C8A/B/C6, EGF-like domain |
| Family | IPR001862 | Membrane attack complex component/perforin/complement C9 |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| Homologous_superfamily | IPR036383 | Thrombospondin type-1 repeat superfamily |
| Repeat | IPR000884 | Thrombospondin type-1 (TSP1) repeat |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement components C8A/B/C6, EGF-like domain | EGF-like domain | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A repeat | Membrane attack complex component/perforin/complement C9 | Membrane attack complex component/perforin domain, conserved site | Membrane attack complex component/perforin (MACPF) domain | Thrombospondin type-1 repeat superfamily | Thrombospondin type-1 (TSP1) repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6DBQ7 | InterPro | 478 | |||||||||
| UniProtKB:F1Q6F3 | InterPro | 592 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers