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FLASH GENE

Symbol

CAMTA1

contributors: mct - updated : 01-03-2017

HGNC name	calmodulin binding transcription activator 1
HGNC id	18806

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001195563 4 - 743 NP_001182492 - 80 - 2004 15138581 NM_001242701 4 - 997 NP_001229630 - 101 - 2004 15138581 NM_015215 23 - 8444 NP_056030 - 1673 - 2004 15138581 NM_001349608 - - 8374 NP_001336537 - 1643 - 2004 15138581 NM_001349609 - - 8095 NP_001336538 - 1567 - 2004 15138581 NM_001349610 - - 8120 NP_001336539 - 1565 - 2004 15138581 NM_001349612 - - 8056 NP_001336541 - 1537 - 2004 15138581 NM_001349613 - - 5420 NP_001336542 - 716 - 2004 15138581 NM_001349614 - - 5701 NP_001336543 - 704 - 2004 15138581 NM_001349615 - - 5363 NP_001336544 - 704 - 2004 15138581 NM_001349616 - - 5381 NP_001336545 - 704 - 2004 15138581 NM_001349617 - - 5676 NP_001336546 - 697 - 2004 15138581 NM_001349618 - - 5413 NP_001336547 - 697 - 2004 15138581 NM_001349619 - - 5047 NP_001336548 - 591 - 2004 15138581 NM_001349620 - - 5393 NP_001336549 - 591 - 2004 15138581 NM_001349621 - - 5362 NP_001336550 - 591 - 2004 15138581 NM_001349622 - - 5005 NP_001336551 - 591 - 2004 15138581 NM_001349623 - - 5341 NP_001336552 - 584 - 2004 15138581 NM_001349624 - - 5043 NP_001336553 - 584 - 2004 15138581 NM_001349625 - - 5358 NP_001336554 - 584 - 2004 15138581 NM_001349626 - - 5041 NP_001336555 - 584 - 2004 15138581 NM_001349627 - - 770 NP_001336556 - 92 - 2004 15138581

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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