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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C1QL1
complement C1q like 1
Chromosome 17 · 17q21.31
NCBI Gene: 10882Ensembl: ENSG00000131094.5HGNC: HGNC:24182UniProt: O75973
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynapsesynaptic cleftmaintenance of synapse structureanxiety disorderAnxietymetabolic syndrometype 2 diabetes mellitus
✦AI Summary

C1QL1 (complement C1q like 1) is a secreted protein with pleiotropic functions spanning synaptic regulation and cancer biology. In the central nervous system, C1QL1 regulates excitatory synapse formation in hippocampal neurons 1 and maintains synaptic connectivity through calcium-modulated assembly of C1ql1-BAI3 complexes in the synaptic cleft 2. In the cochlea, C1QL1 regulates auditory nerve fiber growth via the BAI3-ELMO1-DOCK180-RAC1 integrin pathway 3. Beyond neurobiology, C1QL1 exhibits tissue-specific functions: it promotes endothelial cell angiogenesis through ERK1/2 pathway activation 4. Regarding cancer, C1QL1 displays context-dependent roles. In breast cancer, C1QL1 acts as a tumor suppressor, with reduced expression due to promoter methylation; overexpression inhibits proliferation and metastasis while promoting apoptosis through the HSP90α/VCP-endoplasmic reticulum stress/unfolded protein response axis 5. Conversely, in glioblastoma, C1QL1 functions as a glioma-promoting factor during malignant transformation 6, and in renal clear cell carcinoma, elevated C1QL1 promotes tumor progression via the YAP-epithelial-mesenchymal transition pathway 7. In thyroid cancer, C1QL1 overexpression predicts extrathyroidal extension 8. These findings establish C1QL1 as a multifunctional protein with both protective roles in neural development and context-dependent oncogenic or tumor-suppressive properties.

Sources cited
1
C1QL1 acts as a tumor suppressor in breast cancer through HSP90α/VCP-mediated degradation and ER stress/UPR-dependent apoptosis
PMID: 40583061
2
C1QL1 regulates auditory nerve fiber growth via BAI3-ELMO1-DOCK180-RAC1 integrin pathway in cochlea
PMID: 40193629
3
C1QL1 participates in synaptic organization by binding GluK4 kainate receptors and associating with BAI3 to maintain climbing fiber-Purkinje cell synapses
PMID: 38986610
4
C1QL1 overexpression is an independent predictor of extrathyroidal extension in differentiated thyroid carcinoma
PMID: 29321030
5
C1QL1 functions as a glioma-promoting factor during neural stem cell transformation to malignant glioma
PMID: 33390587
6
C1QL1 undergoes calcium-modulated domain-swapping to form hexamers and linear clusters that accumulate BAI3 receptors for synapse maintenance
PMID: 41372137
7
C1QL1 promotes endothelial cell angiogenesis through ERK1/2 pathway activation via BAI3 receptor
PMID: 27734226
8
C1QL1 promotes renal clear cell carcinoma progression via the YAP-epithelial-mesenchymal transition pathway
PMID: 40118977
Disease Associationsⓘ20
anxiety disorderOpen Targets
0.17Weak
AnxietyOpen Targets
0.11Weak
metabolic syndromeOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.10Suggestive
post-traumatic stress disorderOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
necrotizing enterocolitisOpen Targets
0.08Suggestive
congestive heart failureOpen Targets
0.08Suggestive
Pallister-Hall syndromeOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
Invasive Breast CarcinomaOpen Targets
0.07Suggestive
depressive disorderOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
epilepsyOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
strokeOpen Targets
0.06Suggestive
myeloid sarcomaOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
lung cancerOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADGRB3Protein interaction80%CBLN3Shared pathway50%C1QL4Shared pathway50%CBLN2Shared pathway40%CBLN4Shared pathway40%C1QL3Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
6%
Liver
5%
Ovary
4%
Bone Marrow
1%
Lung
1%
Gene Interaction Network
Click a node to explore
C1QL1ADGRB3CBLN3C1QL4CBLN2CBLN4C1QL3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75973
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.15 [0.77–1.72]
RankingsWhere C1QL1 stands among ~20K protein-coding genes
  • #15,215of 20,598
    Most Researched16
  • #16,214of 17,882
    Most Constrained (LOEUF)1.72
Genes detectedC1QL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
C1QL1 inhibits breast cancer through the HSP90α/VCP-ERS/UPR axis.
PMID: 40583061
Exp Mol Med · 2025
1.00
2
C1QL1 regulates auditory nerve fibers growth via ELMO1-DOCK180-RAC1 integrin.
PMID: 40193629
Acta Otolaryngol · 2025
0.90
3
Kainate receptors regulate synaptic integrity and plasticity by forming a complex with synaptic organizers in the cerebellum.
PMID: 38986610
Cell Rep · 2024
0.80
4
CRABP1, C1QL1 and LCN2 are biomarkers of differentiated thyroid carcinoma, and predict extrathyroidal extension.
PMID: 29321030
BMC Cancer · 2018
0.70
5
Sequential fate-switches in stem-like cells drive the tumorigenic trajectory from human neural stem cells to malignant glioma.
PMID: 33390587
Cell Res · 2021
0.60