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FLASH GENE
Symbol CBLN1 contributors: mct - updated : 22-03-2022
HGNC name cerebellin 1 precursor
HGNC id 1543
Location 16q12.1      Physical location : 49.311.830 - 49.315.742
Synonym name precerebellin
DNA
TYPE functioning gene
STRUCTURE 3.91 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text four different transcripts 1.8, 2.3, 2.7, 3kb, abundant in the cerebellum (Urade)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2442 - 193 - 1994 7877445
EXPRESSION
Rna function
  • CBLN1, CBLN2 and CBLN4 mRNAs are expressed in distinct brain regions, but these regions are partly overlapping
  • mRNAs of CBLN(1 to 4) expressed in the human adrenal gland (
  • Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific Homo sapiens
     brainhindbraincerebellum highly Homo sapiens
     braindiencephalon  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period perinatal
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three possible N-glycosylation sites at the N terminus and C terminal
  • two N-linked glycosylation sites, one at the N-terminus is in a region implicated in NRXN binding and the second is in the C1q domain, a region involved in Grid2 binding
  • a region homolog to the globular region of the B chain of complement component C1q
  • conjugated GlycoP
    mono polymer heteromer
    isoforms Precursor precerebellum of hexadecapeptide cerebellum
    HOMOLOGY
    Homologene
    FAMILY C1q family
    CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text membrane of the synaptosome
    basic FUNCTION
  • stimulating norepinephrine release via the adenylate cyclase/pka- dependent signaling pathway
  • indirectly enhancing adrenocortical secretion through a paracrine mechanism involving medullary catecholamine release
  • CBLN1, CBLN2 and CBLN4 may serve as transneuronal regulators of synaptic functions in various brain regions
  • can play two unique roles at excitatory synapses formed between cerebellar granule cells and Purkinje cells: the formation and stabilization of synaptic contact, and the control of functional synaptic plasticity by regulating the postsynaptic endocytosis pathway
  • unique synapse organizer that is required not only for the normal development of PF-Purkinje cell synapses but also for their maintenance in the mature cerebellum
  • released from cerebellar granule cells and plays a crucial role in forming and maintaining excitatory synapses between parallel fibers (PFs; axons of granule cells) and Purkinje cells not only during development but also in the adult cerebellum
  • determines the dendritic structure of striatal medium spiny neurons, with effects distinct from those seen in the cerebellum
  • play an important role in the formation and maintenance of parallel fiber-Purkinje cell synapses
  • with CBLN2 and CBLN4, exert synaptogenic activities in cortical neurons by differentially interacting with NRXN variants containing S4
  • CBLN1, and CBLN2 induced preferentially inhibitory rather than excitatory presynaptic differentiation of cortical neurons when compared with NLGN1
  • CBLN2 can exhibit functional redundancy with CBLN1 in cerebellum but it does not have the same properties as CBLN1 in thalamic neurons 8)
  • plays an essential role to establish parallel fiber-Purkinje cell synapses and to regulate balance between excitatory and inhibitory input on Purkinje cells
  • predominantly expressed in cerebellar granule cells and plays a crucial role in the formation and function of parallel fiber-Purkinje cell synapses
  • CBLN1 signaling likely regulates motor and non-motor functions in multiple brain regions
  • CBLN1 and C1QL1 proteins regulate the formation and maintenance of parallel fiber-Purkinje cell and climbing fiber-Purkinje cell synapses, respectively, in the cerebellum
  • co-release of CBLN1 and CTSB from lysosomes serves as a new mechanism of activity-dependent coordinated synapse modification
  • CBLN1 and postsynaptic receptor GLUD2 mediate synaptogenesis between granule cells and Purkinje cells in the molecular layer of the cerebellar cortex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CBLN1 and CBLN3 are coexpressed in the brain and interact avidly,and they may function as a secreted heteromeric complex
  • forms protein complexes with OTOL1 and OC90, two protein constituents of the otoconia
  • CBLN1-GLUD2 complex is a unique synapse organizer that acts bidirectionally on both pre- and postsynaptic components
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GRID2 (N-terminal domain of GRID2 interacts with presynaptic neurexins (NRXNs) through CBLN1)
  • binds directly to the N-terminal domain of GLUD2 (GLUD2 expression by postsynaptic cells, combined with exogenously applied CBLN1, was necessary and sufficient to induce new synapsesd in the adult cerebellum)
  • NRXNs may mediate synapse formation in the forebrain by interacting with CBLN1, CBLN2 and CBLN4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS