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FLASH GENE
Symbol CAMTA1 contributors: mct - updated : 01-03-2017
HGNC name calmodulin binding transcription activator 1
HGNC id 18806
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • CG-1 domain
  • TIG domain
  • ankyrin repeats
  • and IQ motifs
    • HOMOLOGY
    Homologene
    FAMILY Calmodulin-binding transcription activator (CAMTA) family protein
    CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • nuclear CAMTA1 expression is identified in the majority of Epithelioid hemangioendothelioma (EHE) cases
    • basic FUNCTION
  • play important roles in oncogenesis
  • may participate in induction of cell differentiation and cell cycle regulation
  • transcription factor that interfaces with the calcium-calmodulin system of the cell to alter gene expression patterns
  • potential role in human episodic memory
  • induced neurite-like processes and markers of neuronal differentiation in neuroblastoma cells
  • inhibits growth and activates differentiation programs in neuroblastoma cells
  • has a role in brain and cerebellar function
  • is a putative tumor suppressive transcription factor
  • is a regulator of long-term memory formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • putative transcription factor, which induces the expression of the anti-proliferative cardiac hormone natriuretic peptide A (NPPA)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CANPMR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    WWTR1-CAMTA1 fusion in all epithelioid hemangioendothelioma tested from bone, soft tissue, and visceral location (liver, lung) in keeping with a unique and specific pathological entity
    tumoral     --low  
    independent predictor of poor outcome in neuroblastoma patients
    tumoral   translocation    
    with TFE3 in Epithelioid hemangioendotheliomas
    Susceptibility
  • to coronary artery disease (CAD) and periodontitis
  • to Sporadic Amyotrophic Lateral Sclerosis
    • Variant & Polymorphism other
  • risk alleles in the genes CDKN2B-AS1, CAMTA1 and PLG that are shared between coronary artery disease (CAD) and periodontitis
  • rs2412208 associated with longer survival
    • Candidate gene
    Marker
  • presence of WWTR1-CAMTA1 fusion may serve as a useful molecular diagnostic tool in challenging diagnoses
  • nuclear CAMTA1 expression is sensitive and highly specific for epithelioid haemangioendothelioma (EHE) and can be applied to diagnostic immunohistochemistry in epithelioid tumours
    • Therapy target
    ANIMAL & CELL MODELS
  • global or nervous system deletion of Camta1 in mice causes severe ataxia with Purkinje cell degeneration and cerebellar atrophy, partially resembling the consequences of haploinsufficiency of the human Camta1 locus