Manteia

ENSG00000136238

Homo sapiens

Features

Gene ID:	ENSG00000136238

Biological name :	RAC1

Synonyms :	P63000 / RAC1 / Rac family small GTPase 1

Possible biological names infered from orthology :

Species:	Homo sapiens

Chr. number:	7
Strand:	1
Band:	p22.1
Gene start:	6374523
Gene end:	6403977

Corresponding Affymetrix probe sets:	1567457_at (Human Genome U133 Plus 2.0 Array) 1567458_s_at (Human Genome U133 Plus 2.0 Array) 208640_at (Human Genome U133 Plus 2.0 Array) 208641_s_at (Human Genome U133 Plus 2.0 Array)

Cross references:	Ensembl peptide - ENSP00000258737 Ensembl peptide - ENSP00000348461 NCBI entrez gene - 5879 See in Manteia. OMIM - 602048 RefSeq - NM_006908 RefSeq - NM_018890 RefSeq Peptide - NP_008839 RefSeq Peptide - NP_061485 swissprot - P63000 swissprot - A4D2P0 swissprot - A4D2P1 Ensembl - ENSG00000136238

Related genetic diseases (OMIM):	617751 - Mental retardation, autosomal dominant 48, 617751

See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
rac1a	ENSDARG00000074849	Danio rerio
rac1b	ENSDARG00000087954	Danio rerio
rac1l	ENSDARG00000054649	Danio rerio
rac1l	ENSDARG00000096549	Danio rerio
si:ch211-1f22.1	ENSDARG00000013203	Danio rerio
si:ch211-1f22.2	ENSDARG00000096666	Danio rerio
RAC1	ENSGALG00000007130	Gallus gallus
Rac1	ENSMUSG00000001847	Mus musculus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
RAC2 / P15153 / Rac family small GTPase 2	ENSG00000128340	84
RAC3 / P60763 / Rac family small GTPase 3	ENSG00000169750	84
RHOG / P84095 / ras homolog family member G	ENSG00000177105	65
CDC42 / P60953 / cell division cycle 42	ENSG00000070831	64
RHOQ / P17081 / ras homolog family member Q	ENSG00000119729	58
RHOJ / Q9H4E5 / ras homolog family member J	ENSG00000126785	54
RHOU / Q7L0Q8 / ras homolog family member U	ENSG00000116574	52
RHOV / Q96L33 / ras homolog family member V	ENSG00000104140	48
O94844 / RHOBTB1 / Rho related BTB domain containing 1	ENSG00000072422	41
Q9BYZ6 / RHOBTB2 / Rho related BTB domain containing 2	ENSG00000008853	40

Protein motifs (from Interpro)

Interpro ID	Name
IPR001806	Small GTPase superfamily
IPR003578	Small GTPase superfamily, Rho type
IPR005225	Small GTP-binding protein domain
IPR027417	P-loop containing nucleoside triphosphate hydrolase

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001934	positive regulation of protein phosphorylation	IMP
biological_process	GO:0002551	mast cell chemotaxis	IEA
biological_process	GO:0006468	protein phosphorylation	IEA
biological_process	GO:0006935	chemotaxis	IEA
biological_process	GO:0006954	inflammatory response	TAS
biological_process	GO:0007015	actin filament organization	IEA
biological_process	GO:0007155	cell adhesion	TAS
biological_process	GO:0007160	cell-matrix adhesion	NAS
biological_process	GO:0007186	G-protein coupled receptor signaling pathway	TAS
biological_process	GO:0007264	small GTPase mediated signal transduction	IEA
biological_process	GO:0007596	blood coagulation	TAS
biological_process	GO:0008283	cell proliferation	IEA
biological_process	GO:0008361	regulation of cell size	IMP
biological_process	GO:0009611	response to wounding	TAS
biological_process	GO:0009653	anatomical structure morphogenesis	TAS
biological_process	GO:0010310	regulation of hydrogen peroxide metabolic process	TAS
biological_process	GO:0010591	regulation of lamellipodium assembly	IGI
biological_process	GO:0010592	positive regulation of lamellipodium assembly	IDA
biological_process	GO:0010811	positive regulation of cell-substrate adhesion	IGI
biological_process	GO:0016601	Rac protein signal transduction	IEA
biological_process	GO:0030032	lamellipodium assembly	IMP
biological_process	GO:0030036	actin cytoskeleton organization	IGI
biological_process	GO:0030041	actin filament polymerization	TAS
biological_process	GO:0030168	platelet activation	TAS
biological_process	GO:0030334	regulation of cell migration	IMP
biological_process	GO:0031116	positive regulation of microtubule polymerization	IMP
biological_process	GO:0031295	T cell costimulation	TAS
biological_process	GO:0031529	ruffle organization	IDA
biological_process	GO:0032707	negative regulation of interleukin-23 production	IDA
biological_process	GO:0034446	substrate adhesion-dependent cell spreading	IMP
biological_process	GO:0035025	positive regulation of Rho protein signal transduction	TAS
biological_process	GO:0035556	intracellular signal transduction	TAS
biological_process	GO:0038095	Fc-epsilon receptor signaling pathway	TAS
biological_process	GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
biological_process	GO:0043065	positive regulation of apoptotic process	TAS
biological_process	GO:0043312	neutrophil degranulation	TAS
biological_process	GO:0045453	bone resorption	IEA
biological_process	GO:0045740	positive regulation of DNA replication	IEA
biological_process	GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS
biological_process	GO:0048012	hepatocyte growth factor receptor signaling pathway	IMP
biological_process	GO:0048013	ephrin receptor signaling pathway	TAS
biological_process	GO:0048261	negative regulation of receptor-mediated endocytosis	TAS
biological_process	GO:0048870	cell motility	IDA
biological_process	GO:0050690	regulation of defense response to virus by virus	TAS
biological_process	GO:0051056	regulation of small GTPase mediated signal transduction	TAS
biological_process	GO:0051492	regulation of stress fiber assembly	IGI
biological_process	GO:0051496	positive regulation of stress fiber assembly	IMP
biological_process	GO:0051668	localization within membrane	IMP
biological_process	GO:0051894	positive regulation of focal adhesion assembly	IDA
biological_process	GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
biological_process	GO:0060263	regulation of respiratory burst	IDA
biological_process	GO:0071260	cellular response to mechanical stimulus	IEA
biological_process	GO:0071526	semaphorin-plexin signaling pathway	ISS
biological_process	GO:0090023	positive regulation of neutrophil chemotaxis	IMP
biological_process	GO:0097178	ruffle assembly	IMP
biological_process	GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IDA
cellular_component	GO:0000139	Golgi membrane	IEA
cellular_component	GO:0005622	intracellular	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005789	endoplasmic reticulum membrane	TAS
cellular_component	GO:0005802	trans-Golgi network	IDA
cellular_component	GO:0005829	cytosol	IEA
cellular_component	GO:0005884	actin filament	IDA
cellular_component	GO:0005886	plasma membrane	TAS
cellular_component	GO:0005925	focal adhesion	HDA
cellular_component	GO:0016020	membrane	ISS
cellular_component	GO:0030027	lamellipodium	IDA
cellular_component	GO:0030667	secretory granule membrane	TAS
cellular_component	GO:0031410	cytoplasmic vesicle	IEA
cellular_component	GO:0032587	ruffle membrane	IDA
cellular_component	GO:0036464	cytoplasmic ribonucleoprotein granule	IDA
cellular_component	GO:0042470	melanosome	IEA
cellular_component	GO:0043197	dendritic spine	IDA
cellular_component	GO:0055038	recycling endosome membrane	IDA
cellular_component	GO:0070062	extracellular exosome	HDA
cellular_component	GO:0101003	ficolin-1-rich granule membrane	TAS
molecular_function	GO:0000166	nucleotide binding	IEA
molecular_function	GO:0003924	GTPase activity	TAS
molecular_function	GO:0004674	protein serine/threonine kinase activity	TAS
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0005525	GTP binding	IMP
molecular_function	GO:0017137	Rab GTPase binding	IEA
molecular_function	GO:0019899	enzyme binding	IPI
molecular_function	GO:0019901	protein kinase binding	IPI
molecular_function	GO:0031996	thioesterase binding	IPI
molecular_function	GO:0042826	histone deacetylase binding	IEA
molecular_function	GO:0051022	Rho GDP-dissociation inhibitor binding	ISS
molecular_function	GO:0051117	ATPase binding	IEA

Pathways (from Reactome)

Pathway description

GPVI-mediated activation cascade

Signaling by SCF-KIT

Translocation of SLC2A4 (GLUT4) to the plasma membrane

Nef and signal transduction

NRAGE signals death through JNK

Rho GTPase cycle

Regulation of actin dynamics for phagocytic cup formation

DAP12 signaling

FCERI mediated MAPK activation

DSCAM interactions

CD28 dependent Vav1 pathway

EPHB-mediated forward signaling

Ephrin signaling

EPH-ephrin mediated repulsion of cells

Sema3A PAK dependent Axon repulsion

SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion

PCP/CE pathway

G alpha (12/13) signalling events

Sema4D mediated inhibition of cell attachment and migration

DCC mediated attractive signaling

Activation of RAC1

Inactivation of CDC42 and RAC1

VEGFA-VEGFR2 Pathway

Signal transduction by L1

VEGFR2 mediated vascular permeability

RHO GTPases activate PKNs

RHO GTPases activate CIT

RHO GTPases activate KTN1

RHO GTPases activate IQGAPs

RHO GTPases activate PAKs

RHO GTPases Activate WASPs and WAVEs

RHO GTPases Activate Formins

RHO GTPases Activate NADPH Oxidases

MAPK6/MAPK4 signaling

Neutrophil degranulation

PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases

MET activates RAP1 and RAC1

NTRK2 activates RAC1

Activated NTRK2 signals through CDK5

Factors involved in megakaryocyte development and platelet production

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
HP:0000006	Autosomal dominant inheritance	"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]	Show
HP:0000252	Microcephaly	"Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]	Show
HP:0000256	Macrocephaly	"The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]	Show
HP:0000733	Stereotyped, repetitive behaviour		Show
HP:0001249	Mental retardation		Show
HP:0001250	Seizures	"Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]	Show
HP:0001252	Muscular hypotonia	"Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]	Show
HP:0001320	Cerebellar vermis hypoplasia		Show
HP:0002079	Hypoplasia of the corpus callosum	"Underdevelopment of the corpus callosum." [HPO:curators]	Show
HP:0002126	Polymicrogyria	"A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]	Show
HP:0002195	Dysgenesis or agenesis of the cerebellar vermis		Show
HP:0002198	Enlarged fourth ventricle		Show
HP:0002280	Enlarged cisterna magna		Show
HP:0006956	Dilation of lateral ventricles		Show
HP:0008872	Feeding problems in infancy		Show

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSG00000004975	DVL2 / O14641 / dishevelled segment polarity protein 2	/ complex / reaction
ENSG00000043462	LCP2 / Q13094 / lymphocyte cytosolic protein 2	/ complex / reaction
ENSG00000065320	NTN1 / O95631 / netrin 1	/ complex / reaction
ENSG00000074771	NOX3 / Q9HBY0 / NADPH oxidase 3	/ complex / reaction
ENSG00000100485	SOS2 / Q07890 / SOS Ras/Rho guanine nucleotide exchange factor 2	/ reaction
ENSG00000100030	MAPK1 / P28482 / mitogen-activated protein kinase 1	/ reaction
ENSG00000090776	EFNB1 / P98172 / ephrin B1	/ complex / reaction
ENSG00000010810	FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase	/ complex / reaction
ENSG00000108262	GIT1 / Q9Y2X7 / GIT ArfGAP 1	/ complex / reaction
ENSG00000089159	PXN / P49023 / paxillin	/ reaction
ENSG00000108947	EFNB3 / Q15768 / ephrin B3	/ complex / reaction
ENSG00000007952	NOX1 / Q9Y5S8 / NADPH oxidase 1	/ complex / reaction
ENSG00000102606	Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7	/ complex / reaction
ENSG00000125266	EFNB2 / P52799 / ephrin B2	/ complex / reaction
ENSG00000124181	PLCG1 / P19174 / phospholipase C gamma 1	/ complex / reaction
ENSG00000071051	NCK2 / O43639 / NCK adaptor protein 2	/ complex / reaction
ENSG00000100365	NCF4 / Q15080 / neutrophil cytosolic factor 4	/ complex / reaction
ENSG00000160145	KALRN / O60229 / kalirin RhoGEF kinase	/ reaction
ENSG00000077264	PAK3 / O75914 / p21 (RAC1) activated kinase 3	/ complex / reaction
ENSG00000075213	Q14563 / SEMA3A / semaphorin 3A	/ complex / reaction
ENSG00000051523	CYBA / P13498 / cytochrome b-245 alpha chain	/ complex / reaction
ENSG00000006607	FARP2 / O94887 / FERM, ARH/RhoGEF and pleckstrin domain protein 2	/ reaction
ENSG00000121879	P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	/ reaction / complex
ENSG00000122966	CIT / O14578 / citron rho-interacting serine/threonine kinase	/ complex / reaction
ENSG00000099250	NRP1 / O14786 / neuropilin 1	/ complex / reaction
ENSG00000102882	MAPK3 / P27361 / mitogen-activated protein kinase 3	/ reaction
ENSG00000134516	DOCK2 / Q92608 / dedicator of cytokinesis 2	/ complex / reaction
ENSG00000062598	ELMO2 / Q96JJ3 / engulfment and cell motility 2	/ reaction
ENSG00000164050	O43157 / PLXNB1 / plexin B1	/ complex / reaction
ENSG00000167193	CRK / P46108 / CRK proto-oncogene, adaptor protein	/ reaction
ENSG00000156299	TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1	/ reaction
ENSG00000132535	DLG4 / P78352 / discs large MAGUK scaffold protein 4	/ complex / reaction
ENSG00000158092	NCK1 / P16333 / NCK adaptor protein 1	/ complex / reaction
ENSG00000141968	VAV1 / P15498 / vav guanine nucleotide exchange factor 1	/ complex / reaction
ENSG00000149269	PAK1 / Q13153 / p21 (RAC1) activated kinase 1	/ complex / reaction
ENSG00000150760	DOCK1 / Q14185 / dedicator of cytokinesis 1	/ complex / reaction
ENSG00000147799	Q9C0H5 / ARHGAP39 / Rho GTPase activating protein 39	/ reaction
ENSG00000130779	CLIP1 / P30622 / CAP-Gly domain containing linker protein 1	/ complex / reaction
ENSG00000155849	ELMO1 / Q92556 / engulfment and cell motility 1	/ reaction / complex
ENSG00000187323	DCC / P43146 / DCC netrin 1 receptor	/ complex / reaction
ENSG00000172602	RND1 / Q92730 / Rho family GTPase 1	/ complex / reaction
ENSG00000158517	NCF1 / P14598 / neutrophil cytosolic factor 1	/ complex / reaction
ENSG00000184922	FMNL1 / O95466 / formin like 1	/ complex / reaction
ENSG00000038382	TRIO / O75962 / trio Rho guanine nucleotide exchange factor	/ complex / reaction
ENSG00000177885	GRB2 / P62993 / growth factor receptor bound protein 2	/ complex / reaction
ENSG00000145675	P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1	/ reaction / complex
ENSG00000100351	GRAP2 / O75791 / GRB2-related adaptor protein 2	/ complex / reaction
ENSG00000182511	FES / P07332 / FES proto-oncogene, tyrosine kinase	/ complex / reaction
ENSG00000126777	KTN1 / Q86UP2 / kinectin 1	/ complex / reaction
ENSG00000097007	ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase	/ reaction
ENSG00000176105	YES1 / P07947 / YES proto-oncogene 1, Src family tyrosine kinase	/ reaction
ENSG00000221866	PLXNA4 / Q9HCM2 / plexin A4	/ complex / reaction
ENSG00000180370	PAK2 / Q13177 / p21 (RAC1) activated kinase 2	/ complex / reaction
ENSG00000076928	Q92888 / ARHGEF1 / Rho guanine nucleotide exchange factor 1	/ reaction
ENSG00000175866	BAIAP2 / Q9UQB8 / BAI1 associated protein 2	/ complex / reaction
ENSG00000169398	PTK2 / Q05397 / protein tyrosine kinase 2	/ complex / reaction
ENSG00000184009	ACTG1 / P63261 / actin gamma 1	/ complex / reaction
ENSG00000134215	VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3	/ complex / reaction
ENSG00000105976	MET / P08581 / MET proto-oncogene, receptor tyrosine kinase	/ complex / reaction
ENSG00000187764	Q92854 / SEMA4D / semaphorin 4D	/ complex / reaction
ENSG00000075624	ACTB / P60709 / actin beta	/ complex / reaction
ENSG00000188747	NOXA1 / Q86UR1 / NADPH oxidase activator 1	/ complex / reaction
ENSG00000126214	KLC1 / Q07866 / kinesin light chain 1	/ complex / reaction
ENSG00000173210	ABLIM3 / O94929 / actin binding LIM protein family member 3	/ complex / reaction
ENSG00000140575	IQGAP1 / P46940 / IQ motif containing GTPase activating protein 1	/ complex / reaction
ENSG00000099204	ABLIM1 / O14639 / actin binding LIM protein 1	/ complex / reaction
ENSG00000155980	KIF5A / Q12840 / kinesin family member 5A	/ complex / reaction
ENSG00000145703	IQGAP2 / Q13576 / IQ motif containing GTPase activating protein 2	/ complex / reaction
ENSG00000163995	ABLIM2 / Q6H8Q1 / actin binding LIM protein family member 2	/ complex / reaction
ENSG00000174996	KLC2 / Q9H0B6 / kinesin light chain 2	/ complex / reaction
ENSG00000136238	RAC1 / P63000 / Rac family small GTPase 1	/ complex / reaction
ENSG00000183856	IQGAP3 / Q86VI3 / IQ motif containing GTPase activating protein 3	/ complex / reaction
ENSG00000197122	SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase	/ reaction / complex
ENSG00000107643	MAPK8 / P45983 / mitogen-activated protein kinase 8	/ reaction
ENSG00000118193	KIF14 / Q15058 / kinesin family member 14	/ complex / reaction
ENSG00000160293	VAV2 / P52735 / vav guanine nucleotide exchange factor 2	/ complex / reaction
ENSG00000266028	O75044 / SRGAP2 / SLIT-ROBO Rho GTPase activating protein 2	/ complex / reaction
ENSG00000196408	NOXO1 / Q8NFA2 / NADPH oxidase organizer 1	/ complex / reaction
ENSG00000213658	LAT / O43561 / linker for activation of T cells	/ complex / reaction
ENSG00000198668	CALM1 / P0DP23 / calmodulin 1	/ complex / reaction
ENSG00000198901	PRC1 / O43663 / protein regulator of cytokinesis 1	/ complex / reaction
ENSG00000197943	PLCG2 / P16885 / phospholipase C gamma 2	/ complex / reaction
ENSG00000160691	SHC1 / P29353 / SHC adaptor protein 1	/ complex / reaction
ENSG00000076356	O75051 / PLXNA2 / plexin A2	/ complex / reaction
ENSG00000130827	P51805 / PLXNA3 / plexin A3	/ complex / reaction
ENSG00000116701	NCF2 / P19878 / neutrophil cytosolic factor 2	/ complex / reaction
ENSG00000165168	CYBB / P04839 / cytochrome b-245 beta chain	/ complex / reaction
ENSG00000171587	DSCAM / O60469 / DS cell adhesion molecule	/ complex / reaction
ENSG00000115904	SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1	/ complex / reaction
ENSG00000114554	PLXNA1 / Q9UIW2 / plexin A1	/ complex / reaction
ENSG00000254087	LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase	/ reaction
ENSG00000120063	GNA13 / Q14344 / G protein subunit alpha 13	/ reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2025 contact: otassy@igbmc.fr