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FLASH GENE
Symbol CAMTA1 contributors: mct - updated : 01-03-2017
HGNC name calmodulin binding transcription activator 1
HGNC id 18806
Corresponding disease
CANPMR cerebellar ataxia, nonprogressive, with mental retardation
Location 1p36.23      Physical location : 6.845.383 - 7.829.763
Synonym symbol(s) CANPMR
DNA
TYPE functioning gene
STRUCTURE 984.38 kb     23 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
NPHP4 1p36.22 nephronophthisis 4 LOC388590 1 LOC388590 KCNAB2 1p36.3 potassium voltage-gated channel, shaker-related subfamily, beta member 2 CHD5 1p36.23 chromodomain helicase DNA binding protein 5 RPL22 1p36.3-p36.2 ribosomal protein L22 LOC388591 1 hypothetical gene supported by AK128246 FLJ32096 1p36.23 hypothetical protein FLJ32096 ICMT 1p36.21 isoprenylcysteine carboxyl methyltransferase MGC40168 1p36.23 hypothetical protein MGC40168 LOC390992 1 similar to helix-loop-helix transcription factor GPR153  G protein-coupled receptor 153 BACH 1p36.2 G protein-coupled receptor 153 LOC388592 1 similar to Transcription factor HES-2 (Hairy and enhancer of split 2) ESPN 1p36.31-p36.11 espin TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1 VAMP3 1pter-p36.32 vesicle-associated membrane protein 3 (cellubrevin) PER3 1p36 period homolog 3 (Drosophila) UTS2 1p36 urotensin 2 TNFRSF9 1p36 tumor necrosis factor receptor superfamily, member 9
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 743 - 80 - 2004 15138581
4 - 997 - 101 - 2004 15138581
23 - 8444 - 1673 - 2004 15138581
- - 8374 - 1643 - 2004 15138581
- - 8095 - 1567 - 2004 15138581
- - 8120 - 1565 - 2004 15138581
- - 8056 - 1537 - 2004 15138581
- - 5420 - 716 - 2004 15138581
- - 5701 - 704 - 2004 15138581
- - 5363 - 704 - 2004 15138581
- - 5381 - 704 - 2004 15138581
- - 5676 - 697 - 2004 15138581
- - 5413 - 697 - 2004 15138581
- - 5047 - 591 - 2004 15138581
- - 5393 - 591 - 2004 15138581
- - 5362 - 591 - 2004 15138581
- - 5005 - 591 - 2004 15138581
- - 5341 - 584 - 2004 15138581
- - 5043 - 584 - 2004 15138581
- - 5358 - 584 - 2004 15138581
- - 5041 - 584 - 2004 15138581
- - 770 - 92 - 2004 15138581
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
cell cycle     cell cycle, S, M
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