Gene
c1r
- ID
- ZDB-GENE-050913-24
- Name
- complement component 1, r subcomponent
- Symbol
- c1r Nomenclature History
- Previous Names
-
- zgc:112309
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Orthologous to human C1R (complement C1r).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Ehlers-Danlos syndrome periodontal type 1 | Alliance | Ehlers-Danlos syndrome, periodontal type, 1 | 130080 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | Spermadhesin, CUB domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q4V9I1
|
195 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available