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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CBLN1
cerebellin 1 precursor
Chromosome 16 · 16q12.1
NCBI Gene: 869Ensembl: ENSG00000102924.13HGNC: HGNC:1543UniProt: P23435
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor regulator activityprotein bindingnegative regulation of excitatory postsynaptic potentialtrans-synaptic signaling by trans-synaptic complex, modulating synaptic transmissionalcohol drinkingobesitydiabetes mellitustype 2 diabetes mellitus
✦AI Summary

CBLN1 encodes cerebellin-1 precursor, a synaptic organizer protein belonging to the C1q family that plays a crucial role in synapse formation and maintenance. The protein is produced and secreted from cerebellar granule cells and functions as a bidirectional synaptic organizer between Purkinje cells and parallel fibers 1. CBLN1 operates through a tripartite complex mechanism, where it binds to presynaptic neurexins and postsynaptic glutamate receptor δ2 (GluD2), forming a NRX/Cbln1/GluD2 complex that is resistant to low extracellular calcium levels 1. This complex serves as the missing ligand for the orphan receptor GluD2, establishing a direct ligand-receptor relationship 2. Loss of CBLN1 function causes severe cerebellar ataxia due to dramatic reduction in parallel fiber-Purkinje cell synapses, demonstrating its essential role in cerebellar synaptogenesis 2. Beyond excitatory synapse formation, CBLN1 also regulates the excitatory-inhibitory balance by suppressing inhibitory synapse formation between Purkinje cells and molecular layer interneurons 3. The protein has shown therapeutic potential, with synthetic versions successfully restoring synaptic functions and motor coordination in mouse models of cerebellar ataxia and other neurological disorders 4. Additionally, D-serine can disrupt CBLN1-GluD1 interactions, affecting synaptic function and nociceptive responses 5.

Sources cited
1
CBLN1 is a synaptic organizer that forms tripartite NRX/Cbln1/GluD2 complex and is necessary for cerebellar synapse formation
PMID: 21342763
2
CBLN1 serves as the missing ligand for orphan receptor GluD2 and its disruption causes cerebellar ataxia
PMID: 20535596
3
CBLN1 suppresses inhibitory synapse formation and regulates excitatory-inhibitory balance in Purkinje cells
PMID: 24607546
4
Synthetic CBLN1-based proteins can restore synaptic functions and motor coordination in neurological disease models
PMID: 32855309
5
D-serine disrupts CBLN1-GluD1 interactions and affects synaptic function and nociceptive responses
PMID: 39890638
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.38Weak
obesityOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.16Weak
central nervous system infectionOpen Targets
0.12Weak
deep vein thrombosisOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
allergic rhinitisOpen Targets
0.12Weak
Eczematoid dermatitisOpen Targets
0.12Weak
rhinitisOpen Targets
0.11Weak
cholelithiasisOpen Targets
0.10Weak
preeclampsiaOpen Targets
0.09Suggestive
myeloid leukemiaOpen Targets
0.08Suggestive
dry eye syndromeOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
polycystic ovary syndromeOpen Targets
0.07Suggestive
Spinocerebellar ataxia type 40Open Targets
0.06Suggestive
spinocerebellar ataxia type 35Open Targets
0.06Suggestive
acute kidney injuryOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NRXN1Protein interaction99%NRXN2Protein interaction99%GLUD1Protein interaction84%NXNProtein interaction75%GRID2Protein interaction69%LRRTM2Protein interaction48%
Tissue Expression6 tissues
Brain
100%
Heart
70%
Liver
7%
Ovary
6%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CBLN1NRXN1NRXN2GLUD1NXNGRID2LRRTM2
PROTEIN STRUCTURE
Preparing viewer…
PDB5KC5 · 2.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.67Intermediate
Observed/Expected LoF0.33 [0.17–0.69]
RankingsWhere CBLN1 stands among ~20K protein-coding genes
  • #14,118of 20,598
    Most Researched20
  • #5,271of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedCBLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A synthetic synaptic organizer protein restores glutamatergic neuronal circuits.
PMID: 32855309
Science · 2020
1.00
2
Construction and validation of a cuproptosis-related prognostic model for glioblastoma.
PMID: 36814929
Front Immunol · 2023
0.90
3
Cbln1 and its family proteins in synapse formation and maintenance.
PMID: 21342763
Curr Opin Neurobiol · 2011
0.80
4
Cbln1 and the δ2 glutamate receptor--an orphan ligand and an orphan receptor find their partners.
PMID: 20535596
Cerebellum · 2012
0.70
5
The role of Cbln1 on Purkinje cell synapse formation.
PMID: 24607546
Neurosci Res · 2014
0.60