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FLASH GENE

Symbol

RASA3

contributors: mct - updated : 27-02-2015

HGNC name	RAS p21 protein activator 3
HGNC id	20331

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q34      Physical location : 114.747.194 - 114.898.095
Synonym name	GTPase activating protein III
	Ins(1,3,4,5)P4-binding protein
	inositol 1,3,4,5-tetrakisphosphate-binding protein
Synonym symbol(s)	GAP1IP4BP, GAPIII, MGC46517, MGC47588

DNA

TYPE	functioning gene
STRUCTURE	154.84 kb     25 Exon(s)

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_007368 25 - 4220 NP_031394 - 834 - 2000 10828023

EXPRESSION

Type

widely

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 Cardiovascular heart         Mus musculus Fetal Lymphoid/Immune spleen         Mus musculus Adult   spleen         Mus musculus Fetal   thymus         Mus musculus Fetal Respiratory lung         Mus musculus Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Mus musculus Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	BTK motif
	PH domain
	C2A and C2B domains are involved in membrane binding and calcium-dependent activation of some GAPs, and catalytic activity of RASA3 is located within the RasGAP domain
	protein kinase C conserved region

HOMOLOGY

interspecies

homolog to murine Rasa3

Homologene

FAMILY

GAP1 family of GTPase activating protein

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	constitutively bound to the membrane via interactions of its pleckstrin homology (PH) domain with PIP2 and PIP3

basic FUNCTION	stimulates the GTPase activity of normal RAS p21
	suppressor of RAS function
	role in intracellular calcium homeostasis
	might be a specific IP4 receptor
	critical, conserved, and nonredundant role for RASA3 in vertebrate hematopoiesis
	RASA3 catalytic activity controls likely RBGEF1 activation and integrin signaling during megakaryocyte differentiation
	function of RASA3 during megakaryopoiesis, megakaryocyte adhesion and migration as well as integrin signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	other,
	binds inositol tetrakisphosphate with high affinity

protein	links GNAI1 proteins to inhibit GNAQ-induced RAS/ERK1/2 activation
	RASA3 targets RAS and RABGEF1
	P2RY12 signaling is required to inhibit RASA3 and enable sustained RABGEF1-dependent platelet activation and thrombus formation at sites of vascular injury

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	in mice, reduced expression of Rasa3 led to premature platelet activation and markedly reduced the life span of circulating platelets
	Rasa3 catalytic inactivation in mouse hematopoietic cells results in a lethal syndrome characterized by severe defects during megakaryopoiesis, thrombocytopenia and a predisposition to develop preleukemia
	scat phenotype is due to a mutation in Rasa3 with its mislocalization leading to its loss of function, and to crisis and remission episodes