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FLASH GENE
Symbol CBLN1 contributors: mct - updated : 22-03-2022
HGNC name cerebellin 1 precursor
HGNC id 1543
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