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FLASH GENE

Symbol

RASGRF1

contributors: mct/pgu - updated : 25-10-2016

HGNC name	Ras protein-specific guanine nucleotide-releasing factor 1
HGNC id	9875

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002891 28 - 6414 NP_002882 190 1273 - 2006 17030618 NM_153815 14 - 4860 NP_722522 - 489 - 2006 17030618 NM_001145648 27 - 6366 NP_001139120 - 1257 - 2006 17030618

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 Digestive intestine small intestine       Nervous brain       highly Mus musculus Adult   brain       highly Mus musculus Fetal Reproductive female system uterus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally
text	maternally imprinted in neonatal brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one N-terminal RAS-GEF domain
	two pleckstrin (PH) homology domains
	one DBL-homology (DBH) domain
	one IQ domain

HOMOLOGY

Homologene

FAMILY

Rho family GTPase-activating protein

CATEGORY

regulatory , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	synaptosomal membrane
	present mainly at synaptosome and its expression after birth increases in parallel with the development of neuronal circuitry

basic FUNCTION	guanine nucleotide releasing factor, specific for Ras proteins
	regulating postnatal growth through synthesis or release of growth hormone
	with ARHGAP5, control pivotal aspects of neural development, including neuronal differentiation and process outgrowth
	neuron-specific guanine nucleotide exchange factor for the small GTPases RAS and RAC1
	RASGRF1 and ARHGAP5 function to modulate Rho signaling in response to integrin engagement
	proper neonatal RASGRF1 expression levels are critical for development
	central role in governing striatal adaptations to dopamine replacement therapy, validating a viable treatment for L-dopa-induced dyskinesia (LID) based on intracellular signaling modulation
	RASGRF1 and ARHGAP5 are essential genes that have distinct, but overlapping roles in the developing nervous system
	its function in both the epithelium and stroma is required for mammary gland development
	is potentially required in both the epithelial and stromal compartments for ductal outgrowth and may play a role in mammary epithelial cell differentiation
	plays an important role in alveolar rhabdomyosarcomas pathogenesis
	RASGRF1 and -GRF2 may act as adaptors that bind PLCG1 and restrict Ca2+ signalling to the vicinity of focal adhesions, indicating a new role for these GRFs that is required for IL1 induction of the RAS&
	8594;ERK pathway and MMP3 expression
	could mediate forms of synaptic plasticity and might participate in the regulation of neuronal excitability and neurite outgrowth though various signal transduction pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with ARHGAP5, regulates actin stress fiber dynamics via hydrolysis of Rho-GTP
	microtubule-destabilizing factor STMN3 is a novel RASGRF1-interacting protein (STMN3 influences the signaling properties of RASGRF)
	CDC42-GDP can inhibit RRAS2 activation by RASGRF1, RASGRF2
	binds nerve growth factor (NGF)-activated TrkA (NTRK1)
	can activate both RAS and RAC1, via intrinsic CDC25 and DH domains, respectively
	RASGRF1/2 associates with PLCG1
	RASGRF1 is an important upstream component of signal transduction pathways regulating PTTG1 expression and controlling beta cell development and physiological responses
	PLPPR1 interacts with RasGEF1 (RasGRF1/CDC25), undergoes Ras-induced challenges, whereas deletion of the C-terminal domain of PLPPR1 (PRG3&
	916;CT) inhibits RAS

cell & other

REGULATION

Other

imprinting is regulated by a CTCF-dependent methylation-sensitive enhancer blocker

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in temporal lobe epilepsy (TLE)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     new potential therapeutic target to inhibit alveolar rhabdomyosarcomas growth

ANIMAL & CELL MODELS

	Rasgrf1 expression from the wild-type paternal allele contributes to learning and memory in neonatal mice
	Rasgrf1-deficient mice were significantly resistant to the development of dyskinesia during chronic L-dopa treatment