C1QL1: Complement C1q Like 1
A secreted protein involved in synaptic maintenance and complement signaling
Gene Information Card
| Symbol | C1QL1 |
|---|---|
| Full Name | Complement C1q Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 10882 ncbi.nlm.nih.gov/gene/10882 |
| Ensembl ID | ENSG00000131094 |
| UniProt ID | O75973 |
| OMIM ID | 611585 |
| HGNC ID | 2023 |
| Aliases | C1q-related factor, C1QL, CRF |
Description
C1QL1 encodes a secreted protein belonging to the C1q family, characterized by a globular C1q domain. It is primarily expressed in the brain and is involved in synapse organization, complement pathway modulation, and neuronal development. The protein forms homotrimers and interacts with other C1q-like proteins to regulate synaptic maintenance and plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic pruning via complement dysregulation | PMID: 30867537 |
| Major Depressive Disorder | Reduced C1QL1 expression in prefrontal cortex | PMID: 25664887 |
| Alzheimer's Disease | Potential role in synaptic loss and complement activation | PMID: 31474328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.102G>A (p.Met34Ile) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Complement cascade (Reactome: R-HSA-166658)
• Synaptic signaling (Reactome: R-HSA-112316)
Protein Summary
C1QL1 is a 258-amino-acid secreted protein with a signal peptide (residues 1-22) and a C1q domain (residues 37-258). It forms homotrimers and is involved in synaptic maintenance, complement activation, and neuronal development. The protein is predominantly expressed in the brain, particularly in the cerebral cortex and cerebellum, and is implicated in neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1QL1 Knockout HEK293 Cell Line | EDJ-KQ51015 | Human | 10882 | Details Get a Quote |
| C1QL1 Knockout HeLa Cell Line | EDJ-KQ55514 | Human | 10882 | Details Get a Quote |
| C1QL1 Knockout A-549 Cell Line | EDJ-KQ64004 | Human | 10882 | Details Get a Quote |
| C1QL1 Knockout HCT 116 Cell Line | EDJ-KQ72455 | Human | 10882 | Details Get a Quote |
