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Aliases for CBLN1 Gene

Aliases for CBLN1 Gene

  • Cerebellin 1 Precursor 2 3
  • Precerebellin 3 4
  • Cerebellin-1 3
  • CLN1 6

External Ids for CBLN1 Gene

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. Diseases associated with CBLN1 include benign paroxysmal positional nystagmus. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is C1QL4.

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 functionnally 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLN1 Gene

Genomics for CBLN1 Gene

Genomic Location for CBLN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLN1 Gene

Regulatory Elements 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 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).

neXtProt entry for CBLN1 Gene

Proteomics data for CBLN1 Gene at MOPED

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 Asn79

Other Protein References for CBLN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLN1 Gene

Domains for CBLN1 Gene

Protein Domains for CBLN1 Gene

UniProtKB/Swiss-Prot:

CBLN1_HUMAN
Domain:
  • Contains 1 C1q domain.:
    • P23435
genes like me logo Genes that share domains with CBLN1: view

No data available for Gene Families 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 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 functionnally 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:0005515 protein binding --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CBLN1: view

Phenotypes for CBLN1 Gene

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

Animal Models for CBLN1 Gene

MGI Knock Outs for CBLN1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for CBLN1 Gene COMPARTMENTS Subcellular localization image for CBLN1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
endosome 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with CBLN1: view

Pathways 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://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 I2D

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 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 for CBLN1 Gene

Compounds for CBLN1 Gene

(2) Novoseek inferred chemical compound relationships for CBLN1 Gene

Compound -log(P) Hits PubMed IDs
adenylate 33.1 1
norepinephrine 20.5 1
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:

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 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 (22.6) and Brain - Cerebellum (21.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CBLN1 Gene

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

Orthologs for CBLN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBLN1 36
  • 99.31 (n)
  • 100 (a)
CBLN1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBLN1 36
  • 95.34 (n)
  • 99.48 (a)
CBLN1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLN1 36
  • 96.2 (n)
  • 99.48 (a)
CBLN1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbln1 36
  • 94.3 (n)
  • 98.96 (a)
Cbln1 16
Cbln1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBLN1 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBLN1 37
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbln1 36
  • 93.78 (n)
  • 99.48 (a)
chicken
(Gallus gallus)
Aves CBLN1 36
  • 80.36 (n)
  • 88.69 (a)
CBLN1 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBLN1 37
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbln1 36
  • 79.96 (n)
  • 94.22 (a)
zebrafish
(Danio rerio)
Actinopterygii cbln1 37
  • 89 (a)
OneToOne
cbln12 36
  • 73.37 (n)
  • 81.03 (a)
Dr.12534 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToMany
Species with no ortholog for CBLN1:
  • 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

Selected 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 MAF
rs41210 -- 49,278,762(+) TTCGT(A/G)TACAA utr-variant-3-prime
rs41211 -- 49,282,398(+) ccggg(C/G)tgcag upstream-variant-2KB
rs42216 -- 49,281,938(+) ccGAG(A/G)CCACG upstream-variant-2KB
rs42366 -- 49,282,143(+) GCCTC(A/G)GCCGC upstream-variant-2KB
rs183749 -- 49,281,603(-) AGGAA(A/G)AGGTG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv833221 CNV Loss 17160897

Relevant External Links for CBLN1 Gene

HapMap Linkage Disequilibrium report
CBLN1

Disorders for CBLN1 Gene

(1) University of Copenhagen DISEASES for CBLN1 Gene

Relevant External Links for CBLN1

Genetic Association Database (GAD)
CBLN1
Human Genome Epidemiology (HuGE) Navigator
CBLN1
genes like me logo Genes that share disorders with CBLN1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Cerebellin enhances in vitro secretory activity of human adrenal gland. (PMID: 10022429) Mazzocchi G. … Nussdorfer G.G. (J. Clin. Endocrinol. Metab. 1999) 3 23
  3. 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
  4. 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 23
  5. Purification and characterisation of cerebellins from human and porcine cerebellum. (PMID: 2760624) Yiangou Y. … Bloom S.R. (J. Neurochem. 1989) 3 4

Products for CBLN1 Gene

Sources for CBLN1 Gene

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