Gene
c6.1
- ID
- ZDB-GENE-040426-1358
- Name
- complement component 6, duplicate 1
- Symbol
- c6.1 Nomenclature History
- Previous Names
-
- c6
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Acts upstream of or within defense response to bacterium and immune response. Predicted to be located in extracellular region. Predicted to be part of membrane attack complex. Predicted to be active in extracellular space. Is expressed in epidermis; gut; liver; periderm; and pharyngeal arch 3-7 skeleton. Human ortholog(s) of this gene implicated in complement component 6 deficiency. Orthologous to human C6 (complement C6).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 11 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64073 (8 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 |
---|---|---|---|
complement component 6 deficiency | Alliance | C6 deficiency | 612446 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR020863 | Membrane attack complex component/perforin domain, conserved site |
Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
Domain | IPR000436 | Sushi/SCR/CCP domain |
Domain | IPR003884 | Factor I / membrane attack complex |
Domain | IPR020864 | Membrane attack complex component/perforin (MACPF) domain |
Domain | IPR048828 | Complement component C6, KAZAL domain |
Domain | IPR048831 | Complement components C8A/B/C6, EGF-like domain |
Family | IPR001862 | Membrane attack complex component/perforin/complement C9 |
Homologous_superfamily | IPR035976 | Sushi/SCR/CCP superfamily |
Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
Homologous_superfamily | IPR036383 | Thrombospondin type-1 (TSP1) repeat superfamily |
Repeat | IPR000884 | Thrombospondin type-1 (TSP1) repeat |
Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
Protein | Length | Complement component C6, KAZAL domain | Complement components C8A/B/C6, EGF-like domain | Factor I / membrane attack complex | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | 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 | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily | Thrombospondin type-1 (TSP1) repeat | Thrombospondin type-1 (TSP1) repeat superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B830
|
840 | |||||||||||||
UniProtKB:Q6PFT2
|
885 | |||||||||||||
UniProtKB:A0A8M2B846
|
905 | |||||||||||||
UniProtKB:A0A8M9Q791
|
840 | |||||||||||||
UniProtKB:A0A8M6Z3V5
|
790 | |||||||||||||
UniProtKB:A0A8M9PDC6
|
718 | |||||||||||||
UniProtKB:A0A8M9PIV7
|
642 |
Interactions and Pathways
No data available
Plasmids
No data available