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FLASH GENE
Symbol ATCAY contributors: mct - updated : 09-07-2015
HGNC name ataxia, cerebellar, Cayman type (caytaxin)
HGNC id 779
Corresponding disease
ATCAY cerebellar ataxia, Cayman type
Location 19p13.3      Physical location : 3.880.617 - 3.928.078
Synonym name
  • Cayman ataxia
  • BNIP-2-homology
  • ataxia cayman type protein
    • Synonym symbol(s) CLAC, BNIP-H, KIAA1872
    DNA
    TYPE functioning gene
    STRUCTURE 47.46 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 5049 - 371 - 2011 21369758
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum   Mus musculus
     braindiencephalonthalamus  
     brainlimbic systemhippocampus   Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    NervousPurkinje cell Rattus norvegicus
    Nervouspyramidal cell Rattus norvegicus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a CRAL-TRIO motif common to proteins binding small lipophilic molecules
  • an ELEWED sequence (amino acids 115-120)
    • HOMOLOGY
    interspecies ortholog to murine Atcay
    ortholog to rattus Atcay_predicted
    Homologene
    FAMILY BNIP-2 family
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • implicated in the suppression of cell death
  • plays a critical role in the molecular response of Purkinje cells to climbing fiber input, and may also contribute to maturational events in cerebellar cortex
  • Caytaxin role in maintaining normal neuronal function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • through binding to GLS, ATCAY could regulate glutamate synthesis at synapses during neurotransmission
  • binds to glutaminase, a neurotransmitter-producing enzyme, and affects its activity and intracellular localization
  • nerve growth factor may stimulate the interaction of ATCAY with PIN1 by releasing its intramolecular inhibition, which could provide a post-translational regulation on the cellular activity of ATCAY during neuronal differentiation
  • caytaxin binds to KLC1 and functions as an adaptor that mediates intracellular transport of specific cargos, one of which is the mitochondrion
  • presynaptic protein Caytaxin is a substrate of CASP3 and CASP7
  • is a substrate of CASP3 and is specifically expressed at the presynapse of vesicular-type glutamate transporter (VGLUT)-positive neurons, where it plays a role in glutamate neurotransmission primarily in the cerebellum and hippocampus
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATCAY
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    could render glutamate excitotoxicity or/and deregulated glutamatergic activation, leading to ataxia, dystonia or other neurological disorders
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS