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Aliases for CBLN1 Gene

Aliases for CBLN1 Gene

  • Cerebellin 1 Precursor 2 3 5
  • Precerebellin 3 4
  • Cerebellin-1 3

External Ids for CBLN1 Gene

Previous GeneCards Identifiers for CBLN1 Gene

  • GC16M039726
  • GC16M049359
  • GC16M049049
  • GC16M049090
  • GC16M047870
  • GC16M035201

Summaries for CBLN1 Gene

Entrez Gene Summary for CBLN1 Gene

  • 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 hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]

GeneCards Summary for CBLN1 Gene

CBLN1 (Cerebellin 1 Precursor) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is CBLN2.

UniProtKB/Swiss-Prot for CBLN1 Gene

  • 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 pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding with NRXN1 and in other hand induces clustering of GRID2 and its associated proteins at the post-synaptic site through association of GRID2. NRXN1-CBLN1-GRID2 complex directly induces parallel fiber protrusions that encapsulate spines of Purkinje cells leading to accumulation of GRID2 and synaptic vesicles. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NRXN1-CBLN1-GRID2 complex mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511).

  • The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity).

Additional gene information for CBLN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLN1 Gene

Genomics for CBLN1 Gene

GeneHancer (GH) Regulatory Elements for CBLN1 Gene

Promoters and enhancers for CBLN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I049281 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 599.3 -0.2 -215 1.1 RB1 ZBTB40 ZNF335 ZNF766 GLIS2 ZNF143 FOS ATF7 PHF21A ZBTB11 CBLN1 LOC102724859 C16orf78
GH16I049283 Enhancer 0.5 ENCODE 550.8 -1.3 -1344 0.2 ZNF335 PKNOX1 ZIC2 EZH2 ZBTB17 CBLN1 LOC102724859 ENSG00000259957
GH16I048971 Enhancer 0.8 ENCODE dbSUPER 14.6 +310.0 309963 1.3 PKNOX1 KLF17 ZNF398 JUND ZFHX2 GLIS1 PRDM10 WT1 EGR2 CBLN1 GC16M048934 MTND4LP25
GH16I048961 Enhancer 1 Ensembl ENCODE dbSUPER 10.6 +317.9 317884 5.6 PKNOX1 FOXA2 FEZF1 ZNF843 ZFHX2 JUND GLIS1 FOS PRDM10 WT1 CBLN1 GC16M048934 MTND4LP25
GH16I049273 Enhancer 0.3 FANTOM5 28.7 +7.8 7830 0.3 CBLN1 GC16P049209
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CBLN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CBLN1 gene promoter:

Genomic Locations for CBLN1 Gene

Genomic Locations for CBLN1 Gene
chr16:49,277,917-49,281,831
(GRCh38/hg38)
Size:
3,915 bases
Orientation:
Minus strand
chr16:49,311,828-49,315,742
(GRCh37/hg19)

Genomic View for CBLN1 Gene

Genes around CBLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLN1 Gene

Proteins for CBLN1 Gene

  • Protein details for CBLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23435-CBLN1_HUMAN
    Recommended name:
    Cerebellin-1
    Protein Accession:
    P23435
    Secondary Accessions:
    • B2RAN9
    • P02682
    • Q52M09

    Protein attributes for CBLN1 Gene

    Size:
    193 amino acids
    Molecular mass:
    21097 Da
    Quaternary structure:
    • Homohexamer; disulfide-linked homotrimers. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers (PubMed:27418511). May form oligomers with CBLN2, CBLN3 AND CBLN4 prior to secretion. Once secreted, does not interact with other CBLN family members. Interacts with GRID1 (By similarity). Interacts with NRXN1 and NRXN2 long (alpha) and short (beta) isoforms produced by alternative promoter usage. Competes with NLGN1 for NRXN1-binding. Weakly interacts with NRXN3 short isoform and not at all with NRXN3 long isoform (By similarity) (PubMed:27418511). Interacts (via C1q domain) with GRID2; GRID2-binding is calcium-independent; CBLN1 hexamers anchor GRID2 N-terminal domain dimers to monomeric NRXN1 isoform beta; promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511).

    Three dimensional structures from OCA and Proteopedia for CBLN1 Gene

neXtProt entry for CBLN1 Gene

Post-translational modifications for CBLN1 Gene

  • The proteolytic processing to yield cerebellin seems to occur either prior to the secretion by presynaptic neurons and subsequent oligomerization or in some other location after release of the mature protein.
  • Glycosylation at Asn23 and posLast=7979

Other Protein References for CBLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLN1 Gene

Domains & Families for CBLN1 Gene

Gene Families for CBLN1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CBLN1 Gene

Suggested Antigen Peptide Sequences for CBLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CBLN1: view

No data available for UniProtKB/Swiss-Prot for CBLN1 Gene

Function for CBLN1 Gene

Molecular function for CBLN1 Gene

UniProtKB/Swiss-Prot 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 pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding with NRXN1 and in other hand induces clustering of GRID2 and its associated proteins at the post-synaptic site through association of GRID2. NRXN1-CBLN1-GRID2 complex directly induces parallel fiber protrusions that encapsulate spines of Purkinje cells leading to accumulation of GRID2 and synaptic vesicles. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NRXN1-CBLN1-GRID2 complex mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511).
UniProtKB/Swiss-Prot Function:
The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity).

Phenotypes From GWAS Catalog for CBLN1 Gene

Gene Ontology (GO) - Molecular Function for CBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27418511
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CBLN1: view
genes like me logo Genes that share phenotypes with CBLN1: view

Animal Models for CBLN1 Gene

MGI Knock Outs for CBLN1:

Animal Model Products

miRNA for CBLN1 Gene

miRTarBase miRNAs that target CBLN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CBLN1 Gene

Localization for CBLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLN1 Gene

Secreted. Cell junction, synapse, postsynaptic cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBLN1 gene
Compartment Confidence
extracellular 4
plasma membrane 3
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with CBLN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CBLN1 Gene

Pathways & Interactions for CBLN1 Gene

SuperPathways for CBLN1 Gene

No Data Available

Interacting Proteins for CBLN1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000219197%0d%0a9606.ENSP00000267406%0d%0a
Selected Interacting proteins: ENSP00000219197 P23435-CBLN1_HUMAN for CBLN1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007268 chemical synaptic transmission TAS 1704129
GO:0007399 nervous system development TAS 1704129
GO:0009306 protein secretion IEA --
GO:0021707 cerebellar granule cell differentiation ISS --
genes like me logo Genes that share ontologies with CBLN1: view

No data available for Pathways by source and SIGNOR curated interactions for CBLN1 Gene

Drugs & Compounds for CBLN1 Gene

(1) Drugs for CBLN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CBLN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CBLN1: view

Transcripts for CBLN1 Gene

mRNA/cDNA for CBLN1 Gene

Unigene Clusters for CBLN1 Gene

Cerebellin 1 precursor:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBLN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for CBLN1 Gene

GeneLoc Exon Structure for
CBLN1
ECgene alternative splicing isoforms for
CBLN1

Expression for CBLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBLN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBLN1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x22.6) and Brain - Cerebellum (x21.6).

Protein differential expression in normal tissues from HIPED for CBLN1 Gene

This gene is overexpressed in Serum (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CBLN1 Gene



Protein tissue co-expression partners for CBLN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CBLN1 Gene:

CBLN1

SOURCE GeneReport for Unigene cluster for CBLN1 Gene:

Hs.458423

mRNA Expression by UniProt/SwissProt for CBLN1 Gene:

P23435-CBLN1_HUMAN
Tissue specificity: In the Purkinje cells postsynaptic structures. In the cerebellum, cerebellin is much less abundant than [des-Ser1]-cerebellin.

Evidence on tissue expression from TISSUES for CBLN1 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CBLN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CBLN1 Gene

Orthologs for CBLN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBLN1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia CBLN1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBLN1 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia CBLN1 33 34
  • 96.2 (n)
cow
(Bos Taurus)
Mammalia CBLN1 33 34
  • 95.34 (n)
mouse
(Mus musculus)
Mammalia Cbln1 33 16 34
  • 94.3 (n)
rat
(Rattus norvegicus)
Mammalia Cbln1 33
  • 93.78 (n)
oppossum
(Monodelphis domestica)
Mammalia CBLN1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBLN1 33 34
  • 80.36 (n)
lizard
(Anolis carolinensis)
Reptilia CBLN1 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbln1 33
  • 79.96 (n)
zebrafish
(Danio rerio)
Actinopterygii cbln1 34
  • 89 (a)
OneToOne
cbln12 33
  • 73.37 (n)
Dr.12534 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
Species where no ortholog for CBLN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBLN1 Gene

ENSEMBL:
Gene Tree for CBLN1 (if available)
TreeFam:
Gene Tree for CBLN1 (if available)

Paralogs for CBLN1 Gene

Paralogs for CBLN1 Gene

(5) SIMAP similar genes for CBLN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CBLN1: view

Variants for CBLN1 Gene

Sequence variations from dbSNP and Humsavar for CBLN1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000850415 -- 49,280,270(-) C/G intron_variant
rs1001006856 -- 49,280,173(-) T/C intron_variant
rs1001291487 -- 49,278,203(-) T/C 3_prime_UTR_variant
rs1001516443 -- 49,277,630(-) G/A downstream_transcript_variant
rs1001617695 -- 49,278,111(-) T/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CBLN1 Gene

Variant ID Type Subtype PubMed ID
nsv833221 CNV loss 17160897
nsv952671 CNV deletion 24416366

Variation tolerance for CBLN1 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBLN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBLN1 Gene

Disorders for CBLN1 Gene

Additional Disease Information for CBLN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CBLN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CBLN1 Gene

Publications for CBLN1 Gene

  1. Precerebellin is a cerebellum-specific protein with similarity to the globular domain of complement C1q B chain. (PMID: 1704129) Urade Y … Morgan JI (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 22 58
  2. Structural basis for integration of GluD receptors within synaptic organizer complexes. (PMID: 27418511) Elegheert J … Aricescu AR (Science (New York, N.Y.) 2016) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Cerebellin stimulates the secretory activity of the rat adrenal gland: in vitro and in vivo studies. (PMID: 10688962) Albertin G … Nussdorfer GG (Neuropeptides 2000) 3 22 58
  5. Cerebellin enhances in vitro secretory activity of human adrenal gland. (PMID: 10022429) Mazzocchi G … Nussdorfer GG (The Journal of clinical endocrinology and metabolism 1999) 3 22 58

Products for CBLN1 Gene

Sources for CBLN1 Gene

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