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CBLN1 Gene(Protein Coding)

Cerebellin 1 Precursor

GCID:
GC16M049277
GIFtS:
54
Genes Participants
UDN Logo

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. 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 formation and maintenance of parallel fiber and Purkinje cell synapses. When parallel fibers make contact with Purkinje spines, CBLN1 interaction with GRID2 triggers the recruitment of NRXN1 and secretory vesicles to the sites of contact. NRXN1-CBLN1-GRID2 signaling induces presynaptic morphological changes, which may further accumulate pre- and postsynaptic components to promote bidirectional maturation of parallel fiber - Purkinje cell functionally active synapses by a positive feedback mechanism. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity).

  • 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).

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

Products:

  1. Regulatory Element

Regulatory Elements for CBLN1 Gene

Enhancers for CBLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G049281 1.2 FANTOM5 ENCODE 49.3 -0.2 -192 1.1 RB1 RAD21 ZNF766 GLIS2 FOS ZBTB11 USF2 SP1 ZNF589 ZNF24 CBLN1 C16orf78 LOC102724859
GH16G048971 0.9 ENCODE dbSUPER 14.6 +310.0 309963 1.3 PKNOX1 KLF17 ZNF398 ATF2 ZFHX2 JUND GLIS1 PRDM10 WT1 TCF7L2 CBLN1 GC16M048934 MTND4LP25
GH16G048961 1.2 Ensembl ENCODE dbSUPER 10.6 +317.9 317885 5.6 CTCF PKNOX1 FOXA2 FEZF1 ZNF384 RAD21 ZFHX2 SMC3 NR2F6 FOS CBLN1 GC16M048934 MTND4LP25
GH16G049273 0.3 FANTOM5 28.7 +7.8 7830 0.3 CBLN1 GC16P049209
GH16G049259 0.4 ENCODE 20.5 +21.6 21621 1.3 MAFK CBLN1 GC16P049209
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBLN1 on UCSC Golden Path with GeneCards custom track

Promoters for CBLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085655 -369 801 RB1 RAD21 ZNF766 ZBTB11 USF2 SP1 ZNF589 ZNF24 ZBTB26 MYC

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

Genomic Location for CBLN1 Gene

Chromosome:
16
Start:
49,277,917 bp from pter
End:
49,281,831 bp from pter
Size:
3,915 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for CBLN1 Gene

Proteins for CBLN1 Gene

Products:

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  2. Protein
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  • 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 are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. May form oligomers with CBLN2, CBLN3 AND CBLN4 prior to secretion. Once secreted, does not interact with other CBLN family members. Interacts with GRID1 and GRID2. GRID2-binding is calcium-independent. 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).

    Three dimensional structures from OCA and Proteopedia for CBLN1 Gene

neXtProt entry for CBLN1 Gene

Protein Expression for CBLN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=2323 and Asn79
  • Modification sites at PhosphoSitePlus

Other Protein References for CBLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for CBLN1

No data available for DME Specific Peptides for CBLN1 Gene

Domains & Families for CBLN1 Gene

Protein Domains for CBLN1 Gene

InterPro:
Blocks:
ProtoNet:

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 Gene Families and UniProtKB/Swiss-Prot for CBLN1 Gene

Function for CBLN1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CBLN1 Gene

UniProtKB/Swiss-Prot Function:
Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the formation and maintenance of parallel fiber and Purkinje cell synapses. When parallel fibers make contact with Purkinje spines, CBLN1 interaction with GRID2 triggers the recruitment of NRXN1 and secretory vesicles to the sites of contact. NRXN1-CBLN1-GRID2 signaling induces presynaptic morphological changes, which may further accumulate pre- and postsynaptic components to promote bidirectional maturation of parallel fiber - Purkinje cell functionally active synapses by a positive feedback mechanism. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity).
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).

Gene Ontology (GO) - Molecular Function for CBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

  • Taconic Biosciences Mouse Models for CBLN1

miRNA for CBLN1 Gene

miRTarBase miRNAs that target CBLN1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Pathways & Interactions for CBLN1 Gene

SuperPathways for CBLN1 Gene

PathCards logo More details on SuperPathways for CBLN1
No Data Available

Interacting Proteins for CBLN1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CBLN1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(34) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CBLN1 Gene

Cerebellin 1 precursor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for CBLN1 Gene
mRNA expression by BioGPS for CBLN1 GenemRNA expression by GTEx 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

Primer Products

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 35
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia CBLN1 34 35
  • 99.31 (n)
dog
(Canis familiaris)
 Mammalia CBLN1 34 35
  • 96.2 (n)
cow
(Bos Taurus)
 Mammalia CBLN1 34 35
  • 95.34 (n)
mouse
(Mus musculus)
 Mammalia Cbln1 34 16 35
  • 94.3 (n)
rat
(Rattus norvegicus)
 Mammalia Cbln1 34
  • 93.78 (n)
oppossum
(Monodelphis domestica)
 Mammalia CBLN1 35
  • 86 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CBLN1 34 35
  • 80.36 (n)
lizard
(Anolis carolinensis)
 Reptilia CBLN1 35
  • 95 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cbln1 34
  • 79.96 (n)
zebrafish
(Danio rerio)
 Actinopterygii cbln1 35
  • 89 (a)
 OneToOne
cbln12 34
  • 73.37 (n)
Dr.12534 34
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000850415 -- 49,280,270(+) TGCGT(C/G)CCACC intron-variant, upstream-variant-2KB
rs1001006856 -- 49,280,173(+) CTCAA(C/T)TCCCT intron-variant, upstream-variant-2KB
rs1001291487 -- 49,278,203(+) GGGAC(C/T)ATTCC utr-variant-3-prime
rs1001516443 -- 49,277,630(+) GCCCG(A/G)GTTTC downstream-variant-500B
rs1001617695 -- 49,278,111(+) GGAAC(G/T)GCGAG utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for CBLN1

Genetic Association Database (GAD)
CBLN1
Human Genome Epidemiology (HuGE) Navigator
CBLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBLN1

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 J.I. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Cerebellin stimulates the secretory activity of the rat adrenal gland: in vitro and in vivo studies. (PMID: 10688962) Albertin G. … Nussdorfer G.G. (Neuropeptides 2000) 3 22 64
  4. Cerebellin enhances in vitro secretory activity of human adrenal gland. (PMID: 10022429) Mazzocchi G. … Nussdorfer G.G. (J. Clin. Endocrinol. Metab. 1999) 3 22 64
  5. Genomic structure and mapping of precerebellin and a precerebellin-related gene. (PMID: 7877445) Kavety B. … Morgan J.I. (Brain Res. Mol. Brain Res. 1994) 2 3 64

Products for CBLN1 Gene

  • Cloud-Clone Corp. Antibodies for CBLN1
  • Cloud-Clone Corp. Proteins for CBLN1
  • Cloud-Clone Corp Assay Kits for CBLN1

Sources for CBLN1 Gene

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