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
- Predicted to be involved in complement activation. Predicted to localize to membrane attack complex. Human ortholog(s) of this gene implicated in complement component 6 deficiency. Is expressed in epidermis; gut; liver; periderm; and pharyngeal arch 3-7 skeleton. 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 |
Interactions and Pathways
No data available
Plasmids
No data available