Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	RAC1
Symbol Alias	TC-25, p21-Rac1, Rac-1
Approved Name	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
Location	7p22
Position	chr7:6374523-6403977, 1
External Links	HGNC: 9801 Entrez Gene: 5879 Ensembl: ENSG00000136238 UCSC: uc003spw.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chen, X., 2015	SNP: rs10234438	RAC1 has been implicated in BPD by interacting with ANK3.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 89)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007411	axon guidance	biological process	TAS	60
GO:0007155	cell adhesion	biological process	TAS[9572733]	42
GO:0006954	inflammatory response	biological process	TAS[9572733]	23
GO:0016020	membrane	cellular component	ISS	137
GO:0045087	innate immune response	biological process	TAS	49
GO:0005886	plasma membrane	cellular component	TAS	360

GO terms by database search (count: 83)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003382	epithelial cell morphogenesis	biological process	IEA	2
GO:0032587	ruffle membrane	cellular component	IEA	4
GO:0048532	anatomical structure arrangement	biological process	IEA	1
GO:0019901	protein kinase binding	molecular function	IEA	29
GO:0050690	regulation of defense response to virus by virus	biological process	TAS	4
GO:0005829	cytosol	cellular component	ISS; TAS	223
GO:0048013	ephrin receptor signaling pathway	biological process	TAS	11
GO:0005525	GTP binding	molecular function	IDA[15467718]; IMP[19625648]	20
GO:0030334	regulation of cell migration	biological process	IMP[19934221]	9
GO:0008283	cell proliferation	biological process	IEA	37
GO:0019899	enzyme binding	molecular function	IPI[16636067]	34
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0042470	melanosome	cellular component	IEA	15
GO:0051496	positive regulation of stress fiber assembly	biological process	IDA[23129259]	3
GO:0072659	protein localization to plasma membrane	biological process	IEA	9
GO:0045216	cell-cell junction organization	biological process	IEA	8
GO:0060263	regulation of respiratory burst	biological process	IDA[16636067]	1
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0051022	Rho GDP-dissociation inhibitor binding	molecular function	ISS	1
GO:0030041	actin filament polymerization	biological process	TAS[9312003]	4
GO:0043652	engulfment of apoptotic cell	biological process	IEA	1
GO:0030742	GTP-dependent protein binding	molecular function	IEA	2
GO:0008152	metabolic process	biological process	IEA; TAS[2674130]	50
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	TAS	12
GO:0009653	anatomical structure morphogenesis	biological process	TAS[9572733]	6
GO:0035556	intracellular signal transduction	biological process	TAS[9572733]	38
GO:0005737	cytoplasm	cellular component	IDA[19625648]	322
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0048261	negative regulation of receptor-mediated endocytosis	biological process	TAS[9312003]	1
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	biological process	IEA	2
GO:0007596	blood coagulation	biological process	TAS	44
GO:0021799	cerebral cortex radially oriented cell migration	biological process	IEA	5
GO:0045453	bone resorption	biological process	IEA	3
GO:0034446	substrate adhesion-dependent cell spreading	biological process	IMP[19625648]	5
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0001934	positive regulation of protein phosphorylation	biological process	IMP[23633677]	15
GO:0002093	auditory receptor cell morphogenesis	biological process	IEA	1
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	biological process	IEA	3
GO:0019897	extrinsic component of plasma membrane	cellular component	IEA	2
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IEA	64
GO:0016032	viral process	biological process	TAS	26
GO:0051894	positive regulation of focal adhesion assembly	biological process	IDA[23129259]	1
GO:0051668	localization within membrane	biological process	IMP[16636067]	2
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	biological process	IDA[23129259]	1
GO:0032707	negative regulation of interleukin-23 production	biological process	IDA[16982892]	2
GO:0001891	phagocytic cup	cellular component	IEA	2
GO:0009611	response to wounding	biological process	TAS[9572733]	9
GO:0090103	cochlea morphogenesis	biological process	IEA	3
GO:0048870	cell motility	biological process	IDA[19403692]	3
GO:0030032	lamellipodium assembly	biological process	IMP[9312003]	6
GO:0097178	ruffle assembly	biological process	IEA	1
GO:0010592	positive regulation of lamellipodium assembly	biological process	IDA[15467718]; IMP[19625648]	2
GO:0006928	movement of cell or subcellular component	biological process	TAS[9572733]	7
GO:0030036	actin cytoskeleton organization	biological process	IGI[19890013]	9
GO:0010310	regulation of hydrogen peroxide metabolic process	biological process	TAS[16636067]	1
GO:0035025	positive regulation of Rho protein signal transduction	biological process	TAS[9312003]	1
GO:0071526	semaphorin-plexin signaling pathway	biological process	ISS	2
GO:0005515	protein binding	molecular function	IPI[10051605]	563
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	biological process	TAS	9
GO:0010811	positive regulation of cell-substrate adhesion	biological process	IGI[20926685]	3
GO:0030027	lamellipodium	cellular component	IDA[19625648]	9
GO:0031996	thioesterase binding	molecular function	IPI[12612085]	2
GO:0021831	embryonic olfactory bulb interneuron precursor migration	biological process	IEA	1
GO:0007264	small GTPase mediated signal transduction	biological process	IEA	18
GO:0031295	T cell costimulation	biological process	TAS	6
GO:0005884	actin filament	cellular component	IDA[19625648]	9
GO:0090023	positive regulation of neutrophil chemotaxis	biological process	IMP[19625648]	1
GO:0006972	hyperosmotic response	biological process	IEA	2
GO:0030838	positive regulation of actin filament polymerization	biological process	IEA	6
GO:0007160	cell-matrix adhesion	biological process	NAS[18156211]	11
GO:0002551	mast cell chemotaxis	biological process	IEA	1
GO:0048813	dendrite morphogenesis	biological process	IEA	5
GO:0036464	cytoplasmic ribonucleoprotein granule	cellular component	IDA[15121898]	3
GO:0005802	trans-Golgi network	cellular component	IDA[12915445]	10
GO:0017137	Rab GTPase binding	molecular function	IEA	6
GO:0097190	apoptotic signaling pathway	biological process	TAS	13
GO:0071542	dopaminergic neuron differentiation	biological process	IEA	2
GO:0003924	GTPase activity	molecular function	TAS[9312003]	14
GO:0043065	positive regulation of apoptotic process	biological process	TAS	25
GO:0045740	positive regulation of DNA replication	biological process	IEA	7
GO:0030168	platelet activation	biological process	TAS	22
GO:0031529	ruffle organization	biological process	IDA[15467718]; TAS[9312003]	3

Gene related KEGG pathways (count: 17)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04510	Focal adhesion	22
hsa04010	MAPK signaling pathway	39

KEGG pathways by database search (count: 15)

ID	Name	No. of Genes in BDgene
hsa05211	Renal cell carcinoma	6
hsa05210	Colorectal cancer	14
hsa04520	Adherens junction	11
hsa05212	Pancreatic cancer	10
hsa04360	Axon guidance	16
hsa04370	VEGF signaling pathway	11
hsa04650	Natural killer cell mediated cytotoxicity	13
hsa05030	Amyotrophic lateral sclerosis (ALS)	5
hsa04620	Toll-like receptor signaling pathway	10
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	11
hsa04670	Leukocyte transendothelial migration	13
hsa04664	Fc epsilon RI signaling pathway	13
hsa04662	B cell receptor signaling pathway	8
hsa04310	Wnt signaling pathway	20
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 21)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
fMLPpathway	fMLP induced chemokine gene expression in HMC-1 cells	4

BioCarta pathways by database search (count: 20)

ID	Name	No. of Genes in BDgene
actinYPathway	Y branching of actin filaments	1
At1rPathway	Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling	4
cdc42racPathway	Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration	2
malPathway	Role of MAL in Rho-Mediated Activation of SRF	2
edg1Pathway	Phospholipids as signalling intermediaries	4
agrPathway	Agrin in Postsynaptic Differentiation	8
crebPathway	Transcription factor CREB and its extracellular signals	8
nkcellsPathway	Ras-Independent pathway in NK cell-mediated cytotoxicity	3
salmonellaPathway	How does salmonella hijack a cell	1
pyk2Pathway	Links between Pyk2 and Map Kinases	2
mapkPathway	MAPKinase Signaling Pathway	4
p38mapkPathway	p38 MAPK Signaling Pathway	3
arfPathway	Tumor Suppressor Arf Inhibits Ribosomal Biogenesis	4
ptdinsPathway	Phosphoinositides and their downstream targets.	6
rasPathway	Ras Signaling Pathway	5
RacCycDPathway	Influence of Ras and Rho proteins on G1 to S Transition	3
tcrPathway	T Cell Receptor Signaling Pathway	7
ucalpainPathway	uCalpain and friends in Cell spread	1
bcrPathway	BCR Signaling Pathway	4
rac1Pathway	Rac 1 cell motility signaling pathway	6

Gene related interactors from protein-protein interactions data in HPRD (count: 84)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RAC1	NCK1	NO	in vivo	10766742
RAC1	CASP7	NO	in vitro	11278572
RAC1	ARHGDIB	NO	in vivo	9799233
RAC1	STAU1	NO	in vitro	15121898
RAC1	PRKCI	NO	in vivo	11260256
RAC1	OPHN1	NO	in vitro	11998687 , 9582072
RAC1	ACTA1	NO	in vivo	11027608
RAC1	PRKCA	NO	in vivo	11284700
RAC1	ARHGEF2	NO	in vitro;in vivo	11595749 , 9857026
RAC1	PLXNB1	NO	in vitro;in vivo	12123608
RAC1	RAP1GDS1	NO	yeast 2-hybrid	11948427
RAC1	PAK7	NO	in vitro;in vivo	11756552
RAC1	CYFIP1	NO	in vitro;in vivo	9417078
RAC1	CDC42SE2	NO	yeast 2-hybrid	10816584
RAC1	TUBA4A	NO	in vivo	8631991
RAC1	FMNL1	NO	in vitro;in vivo	10958683
RAC1	PPP2R2B	NO	in vivo	17245428
RAC1	CDC42BPG	NO	in vitro	15194684
RAC1	FLNA	NO	in vivo	10051605
RAC1	WAS	NO	in vivo	8643625
RAC1	PAK2	NO	in vitro	9535855
RAC1	TIAM1	NO	in vitro;in vivo	11595749 , 11130063
RAC1	MTNR1A	YES	in vivo	17215244
RAC1	DVL1	YES	in vivo	12533515
RAC1	CAV1	NO	in vivo	15976327
RAC1	ARFIP2	NO	in vitro;yeast 2-hybrid	11478794 , 8670882
RAC1	DEF6	YES	in vitro	15023524
RAC1	RCC2	NO	in vitro;yeast 2-hybrid	12919680
RAC1	IL1RAP	NO	in vivo	11416133
RAC1	MAP3K11	NO	in vitro	9427749
RAC1	NCF1	NO	in vitro;in vivo;yeast 2-hybrid	9255350 , 11893732
RAC1	DVL2	NO	in vivo	12533515
RAC1	ICMT	NO	in vivo	12006387
RAC1	DOCK8	NO	yeast 2-hybrid	15304341
RAC1	CYBA	NO	in vitro	10486263
RAC1	ACTB	NO	in vitro;in vivo	11027608
RAC1	VAV1	NO	in vivo	16397238
RAC1	SYNJ2	NO	in vitro;in vivo;yeast 2-hybrid	11084340
RAC1	PRKCD	NO	in vivo	19356729
RAC1	IFNGR1	NO	in vivo	15494521
RAC1	EIF2AK2	NO	in vitro	7738010
RAC1	ARHGDIA	NO	in vitro;in vivo;yeast 2-hybrid	11513579 , 10673424 , 10346909
RAC1	CASP3	NO	in vitro	11278572
RAC1	RALBP1	NO	in vitro;yeast 2-hybrid	7673236
RAC1	VAV2	NO	in vivo	16397238
RAC1	PTPLAD1	NO	in vivo	10747961
RAC1	VAV3	YES	in vitro	10523675
RAC1	DIAPH1	YES	in vitro;in vivo	11590143
RAC1	NCF2	NO	in vitro;in vivo;yeast 2-hybrid	11090627 , 11896062 , 9624165 , 9255350 , 8036496 , 7738010
RAC1	BAIAP2	NO	in vitro;in vivo	12054568 , 11130076 , 19171758
RAC1	PARD6A	NO	in vitro;in vivo;yeast 2-hybrid	11260256
RAC1	OCRL	NO	in vitro	12915445
RAC1	PAK1	NO	in vitro;in vivo	11134022 , 8107774 , 7744004 , 11950930 , 10706722 , 10802735
RAC1	METAP2	NO	in vitro	7738010
RAC1	STAT1	NO	in vivo	15494521
RAC1	STAT3	NO	in vivo;yeast 2-hybrid	11021801
RAC1	TBC1D3F	NO	in vivo	12612085
RAC1	ARHGDIG	NO	in vitro;in vivo	14764880
RAC1	AKT1	YES	in vitro;in vivo	10617634
RAC1	CDC42SE1	NO	in vivo;yeast 2-hybrid	10816584
RAC1	MCF2L	NO	in vivo	14701795 , 7957046
RAC1	DOCK1	NO	in vitro;in vivo	12134158 , 9808620 , 15247908
RAC1	ARHGEF7	NO	in vitro	14557270
RAC1	PLEKHG2	NO	in vitro	11839748
RAC1	WASF1	NO	in vivo	9843499
RAC1	DOCK2	NO	in vitro	10559471
RAC1	PARD6G	NO	in vitro	11260256
RAC1	NCKAP1	NO	in vitro;in vivo	9148763 , 9417078
RAC1	MAP3K4	NO	in vitro	9305638
RAC1	TRIO	YES	in vitro;in vivo	11595749
RAC1	NOXA1	NO	in vitro;yeast 2-hybrid	12716910
RAC1	FHOD1	NO	in vitro;in vivo	11590143 , 15051728 , 15642356
RAC1	IQGAP1	NO	in vitro;in vivo	8670801 , 8702968 , 8798539 , 8756646 , 19079338
RAC1	CYBB	NO	in vivo	11893732
RAC1	TLR2	NO	in vivo	11101877
RAC1	SET	NO	in vitro;in vivo	17245428
RAC1	CHN1	YES	in vitro	8496137
RAC1	IQGAP2	NO	in vitro;in vivo	8756646 , 8702968
RAC1	KTN1	NO	yeast 2-hybrid	8769096
RAC1	TNFRSF12A	NO	in vivo	14573547
RAC1	RASGRF1	NO	in vitro;in vivo	10220378
RAC1	RPS6KB1	NO	in vitro	11438723
RAC1	NOS2	NO	in vitro;yeast 2-hybrid	11457725 , 11422783
RAC1	SH3BP1	NO	in vitro	10508610

Related other genetic factors

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10234438	chr7:6383169 - 6383169(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs6950333	chr7:6391665 - 6391665(1)	intron_variant; non_coding_transcript_variant
rs6967221	chr7:6391460 - 6391460(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs12977	chr7:6402802 - 6402802(1)	3_prime_UTR_variant; downstream_gene_variant
rs6954996	chr7:6401627 - 6401627(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2347338	chr7:6378647 - 6378647(1)	intron_variant; non_coding_transcript_variant
rs10238136	chr7:6383715 - 6383715(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7p22.2-p21.1	chr7:2800000-20900000	1 (0/0/1)
Chr 7	chr7:0-159345973	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr7:6374523..6403977 View in gBrowse