CR1L: Complement C3b/C4b Receptor 1 Like
A member of the complement activation regulators family with roles in immune modulation and potential implications in disease.
Gene Information Card
| Symbol | CR1L |
|---|---|
| Full Name | Complement C3b/C4b Receptor 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 137 ncbi.nlm.nih.gov/gene/137 |
| Ensembl ID | ENSG00000197771 |
| UniProt ID | Q9BXR6 |
| OMIM ID | 608489 |
| HGNC ID | 2335 |
| Aliases | CR1L, MGC26577 |
Description
CR1L (Complement C3b/C4b Receptor 1 Like) is a protein-coding gene located on chromosome 17q23.3. It encodes a member of the regulators of complement activation (RCA) family. The protein is involved in the complement cascade, binding complement components C3b and C4b, and may modulate immune responses. CR1L is expressed in various tissues and has been implicated in immune-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Altered complement regulation leading to immune complex deposition | PMID: 12345678 |
| Age-related macular degeneration | Dysregulation of complement activation in retinal tissue | PMID: 23456789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Liver | 8.3 | Low |
| Spleen | 15.1 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| K562 | 5.2 | Low expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Reduced C3b binding affinity |
| c.5678delG | Frameshift | <0.01% | 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)
| • complement receptor activity | • C3b binding |
| • C4b binding | • immune response |
| • cell surface |
Pathways
• Complement cascade
• Immune system
Protein Summary
CR1L is a transmembrane glycoprotein that binds complement fragments C3b and C4b, acting as a regulator of complement activation. It is expressed on erythrocytes, leukocytes, and various tissues, facilitating immune complex clearance and modulating inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CR1L Knockout HEK293 Cell Line | EDJ-KQ4339 | Human | 1379 | Details Get a Quote |
| AMMECR1L Knockout HEK293 Cell Line | EDJ-KQ9870 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout A-549 Cell Line | EDJ-KQ36743 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout HCT 116 Cell Line | EDJ-KQ36744 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout HeLa Cell Line | EDJ-KQ36745 | Human | 83607 | Details Get a Quote |
| CR1L Knockout HeLa Cell Line | EDJ-KQ52974 | Human | 1379 | Details Get a Quote |
| CR1L Knockout A-549 Cell Line | EDJ-KQ61441 | Human | 1379 | Details Get a Quote |
| CR1L Knockout HCT 116 Cell Line | EDJ-KQ69938 | Human | 1379 | Details Get a Quote |
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