C1RL: Complement C1r Subcomponent Like
Gene encoding a serine protease of the complement system
Gene Information Card
| Symbol | C1RL |
|---|---|
| Full Name | complement C1r subcomponent like |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 51279 ncbi.nlm.nih.gov/gene/51279 |
| Ensembl ID | ENSG00000139178 |
| UniProt ID | Q9NZP8 |
| OMIM ID | 607064 |
| HGNC ID | 2127 |
| Aliases | C1r-LP, C1RL1, C1r-like protein |
Description
C1RL (complement C1r subcomponent like) is a protein-coding gene located on chromosome 12p13.31. It encodes a serine protease that is part of the complement system, specifically involved in the classical pathway. The protein is similar to C1r but has distinct functional properties. C1RL is expressed in various tissues and may play a role in immune response and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Complement deficiency | Loss of C1RL function may impair classical complement pathway activation | ClinVar: pathogenic variants reported |
| Systemic lupus erythematosus (SLE) | Altered complement function due to C1RL mutations may contribute to immune complex clearance defects | OMIM: 607064 associated with complement abnormalities |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.7 | Low |
| Kidney | 5.1 | Low |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| K562 | 2.1 | Leukemia cell line |
| HeLa | 1.5 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T | Missense | 0.01% | p.Arg349Trp; may affect protein stability |
| c.1234delG | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • complement activation (GO:0006956) | • proteolysis (GO:0006508) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Classical complement pathway (Reactome: R-HSA-166663)
Protein Summary
The C1RL protein is a serine protease that shares structural similarity with complement C1r. It is secreted and participates in the classical complement pathway, where it may cleave C4 and C2 components. The protein contains a CUB domain, EGF-like domain, and a trypsin-like serine protease domain. Its precise physiological role is still under investigation, but it is implicated in immune surveillance and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1RL Knockout HEK293 Cell Line | EDJ-KQ2415 | Human | 51279 | Details Get a Quote |
| C1RL Knockout HCT 116 Cell Line | EDJ-KQ22919 | Human | 51279 | Details Get a Quote |
| C1RL Knockout HeLa Cell Line | EDJ-KQ22920 | Human | 51279 | Details Get a Quote |
| C1RL Knockout A-549 Cell Line | EDJ-KQ21593 | Human | 51279 | Details Get a Quote |
