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FLASH GENE

Symbol

CANT1

contributors: mct/npt/pgu - updated : 22-09-2015

HGNC name	calcium activated nucleotidase 1
HGNC id	19721

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DSBQS Desbuquois syndrome
Location	17q25.3      Physical location : 76.987.798 - 77.005.899
Synonym name	apyrase
	Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase
	soluble Ca-Activated Nucleotidase, isozyme 1
	putative MAPK-activating protein PM09
	putative NF-kappa-B-activating protein 107
Synonym symbol(s)	SHAPY, SCAN-1
EC.number	3.6.1.6

DNA

TYPE	functioning gene
STRUCTURE	18.10 kb     5 Exon(s)

text structure

five coding exons

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	all transcripts encode de same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001159772 6 - 3489 NP_001153244 - 401 - 2009 19853239 NM_001159773 5 - 3350 NP_001153245 - 401 - 2009 19853239 NM_138793 4 - 3545 NP_620148 - 401 - 2009 19853239 characterized by eight nucleotidase conserved regions (NRC)

EXPRESSION

Type

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 Digestive intestine small intestine         intestine large intestine rectum     Nervous brain hindbrain cerebellum     Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage     specific Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol not specific chondrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

dimeric nature of the soluble nucleotidase, the dimer interface containing a central core of hydrophobic residues

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY

apyrase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	exists as both a membrane-bound form in the endoplasmic reticulum and pre-Golgi intermediate membranes and as a secreted, soluble form

basic FUNCTION	homologue of the salivary anti-coagulant apyrases injected by insects into their hosts to allow blood feeding
	specific involvement in the endochondral ossification process
	involved in chondrocyte ER metabolism
	endoplasmic reticulum (ER)-Golgi resident Ca(2+)-dependent nucleoside diphosphatase, suggested to have a role in glucosylation reactions related to the quality control of proteins in the ER and the Golgi apparatus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

key role of CANT1, and of the regulation of its gene by KCNIP3, in the control of protein synthesis and degradation

cell & other

REGULATION

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	exists as both a membrane-bound form in the endoplasmic reticulum and pre-Golgi intermediate membranes and as a secreted, soluble form

basic FUNCTION

unknown

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DSBQS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       CANT1-ETV4 fusion in prostate cancer constitutional germinal mutation       mutation of glutamic acid 130 (located in the dimer interface) to tyrosine increased both the tendency to form dimers and the ADPase activity

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	have therapeutic potential as anti-coagulant and anti-thrombotic therapeutic agents (utility in future treatment strategies for thrombotic cardiovascular diseases, including myocardial infarctions and ischemic strokes)
	potent inhibitor of platelet aggregation and may serve as the basis for the development of a new class of antithrombotic agents

ANIMAL & CELL MODELS