Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	869
Gene name	Cerebellin 1 precursor
Gene symbol	CBLN1
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16q12.1
Summary	This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptid

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments
MIRT865667	hsa-miR-3191	CLIP-seq
MIRT865668	hsa-miR-4716-3p	CLIP-seq
MIRT865669	hsa-miR-4737	CLIP-seq
MIRT2446261	hsa-miR-1271	CLIP-seq
MIRT2446262	hsa-miR-142-5p	CLIP-seq
MIRT2446263	hsa-miR-182	CLIP-seq
MIRT2446264	hsa-miR-4635	CLIP-seq
MIRT2446265	hsa-miR-96	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27418511
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007268	Process	Chemical synaptic transmission	TAS	1704129
GO:0007399	Process	Nervous system development	TAS	1704129
GO:0007416	Process	Synapse assembly	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0021707	Process	Cerebellar granule cell differentiation	IEA
GO:0021707	Process	Cerebellar granule cell differentiation	ISS
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0042802	Function	Identical protein binding	IEA
GO:0043083	Component	Synaptic cleft	IBA
GO:0043083	Component	Synaptic cleft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IMP	27418511
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098820	Component	Trans-synaptic protein complex	IDA	27418511
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099550	Process	Trans-synaptic signaling, modulating synaptic transmission	IEA
GO:0099558	Process	Maintenance of synapse structure	IBA
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0099558	Process	Maintenance of synapse structure	ISS
GO:1900454	Process	Positive regulation of long-term synaptic depression	IMP	27418511
GO:1905606	Process	Regulation of presynapse assembly	IEA
GO:1905703	Process	Negative regulation of inhibitory synapse assembly	IEA
GO:1905703	Process	Negative regulation of inhibitory synapse assembly	ISS

MIM	HGNC	e!Ensembl
600432	1543	ENSG00000102924

P23435

Protein name

Cerebellin-1 (Precerebellin) [Cleaved into: Cerebellin (CER); [des-Ser1]-cerebellin]

Protein function

Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, the establishment of the proper

PDB

5KC5 , 5KC6 , 5KC7 , 5KCA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00386	C1q	63 → 190	C1q domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In the Purkinje cells postsynaptic structures. In the cerebellum, cerebellin is much less abundant than [des-Ser1]-cerebellin.

Sequence

MLGVLELLLLGAAWLAGPARGQNETEPIVLEGKCLVVCDSNPTSDPTGTALGISVRSGSA
KVAFSAIRSTNHEPSEMSNRTMIIYFDQVLVNIGNNFDSERSTFIAPRKGIYSFNFHVVK
VYNRQTIQVSLMLNGWPVISAFAGDQDVTREAASNGVLIQMEKGDRAYLKLERGNLMGGW
KYSTFSGFLVFPL

Sequence length

193

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32218699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	32597152	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34528139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	32597152	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

CBLN1 (cerebellin 1 precursor)