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
- Unmapped
- Description
- Is predicted to enable serine-type endopeptidase activity. Involved in zymogen activation. Acts upstream of or within complement activation, classical pathway and proteolysis. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome periodontal type 1. 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
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033116 | Serine proteases, trypsin family, serine active site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000436 | Sushi/SCR/CCP domain |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR000859 | CUB domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
| Family | IPR035707 | Complement C1r subcomponent |
| Homologous_superfamily | IPR009003 | Peptidase S1, PA clan |
| Homologous_superfamily | IPR035914 | Spermadhesin, CUB domain superfamily |
| Homologous_superfamily | IPR035976 | Sushi/SCR/CCP superfamily |
| Homologous_superfamily | IPR043504 | Peptidase S1, PA clan, chymotrypsin-like fold |
Domain Details Per Protein
| Protein | Length | Complement C1r subcomponent | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, serine active site | Spermadhesin, CUB domain superfamily | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4V9I1
|
195 | |||||||||||||
|
UniProtKB:A0A0R4IL35
|
662 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available