Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9138
Gene name	Rho guanine nucleotide exchange factor 1
Gene symbol	ARHGEF1
Synonyms (NCBI Gene)	GEF1IMD62LBCL2LSCP115-RHOGEFSUB1.5
Chromosome	19
Chromosome location	19q13.2
Summary	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multipl

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1568815169	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568822574	G>T	Pathogenic	Splice acceptor variant

Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002695	hsa-miR-124-3p	Microarray	15685193
MIRT018227	hsa-miR-335-5p	Microarray	18185580
MIRT002695	hsa-miR-124-3p	Microarray	18668037
MIRT002695	hsa-miR-124-3p	Microarray	15685193
MIRT050115	hsa-miR-26a-5p	CLASH	23622248
MIRT043573	hsa-miR-331-3p	CLASH	23622248
MIRT043573	hsa-miR-331-3p	CLASH	23622248
MIRT795503	hsa-miR-124	CLIP-seq
MIRT795504	hsa-miR-1275	CLIP-seq
MIRT795505	hsa-miR-3127-5p	CLIP-seq
MIRT795506	hsa-miR-3163	CLIP-seq
MIRT795507	hsa-miR-3614-5p	CLIP-seq
MIRT795508	hsa-miR-4665-5p	CLIP-seq
MIRT795509	hsa-miR-506	CLIP-seq
MIRT795510	hsa-miR-548ac	CLIP-seq
MIRT795511	hsa-miR-548ae	CLIP-seq
MIRT795512	hsa-miR-548aj	CLIP-seq
MIRT795513	hsa-miR-548am	CLIP-seq
MIRT795514	hsa-miR-548d-3p	CLIP-seq
MIRT795515	hsa-miR-548x	CLIP-seq
MIRT795516	hsa-miR-548z	CLIP-seq
MIRT2174670	hsa-miR-1273f	CLIP-seq
MIRT795504	hsa-miR-1275	CLIP-seq
MIRT795507	hsa-miR-3614-5p	CLIP-seq
MIRT2174671	hsa-miR-4447	CLIP-seq
MIRT2174672	hsa-miR-4472	CLIP-seq
MIRT2174673	hsa-miR-4651	CLIP-seq
MIRT795508	hsa-miR-4665-5p	CLIP-seq
MIRT2174674	hsa-miR-608	CLIP-seq
MIRT2174675	hsa-miR-663b	CLIP-seq

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Transcription factor	Regulation	Reference
HOXA5	Activation	17379095
HOXA9	Activation	17379095

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	8810315, 9641916
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8810315
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	12681510, 20300064, 25416956
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10747909
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS	10747909
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007266	Process	Rho protein signal transduction	TAS	10747909
GO:0016020	Component	Membrane	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IDA	9641916

MIM	HGNC	e!Ensembl
601855	681	ENSG00000076928

Q92888

Protein name

Rho guanine nucleotide exchange factor 1 (115 kDa guanine nucleotide exchange factor) (p115-RhoGEF) (p115RhoGEF) (Sub1.5)

Protein function

Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as a GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nu

PDB

1IAP , 1SHZ , 3AB3 , 3ODO , 3ODW , 3ODX , 3P6A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09128	RGS-like	42 → 232	Regulator of G protein signalling-like domain	Domain
PF00621	RhoGEF	420 → 603	RhoGEF domain	Domain
PF17838	PH_16	632 → 760	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9135076}.

Sequence

MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLM
ALLQHVALQFEPGPLLCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAF
ELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKS
GRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATD
RKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETESPEPGDEGEPGRSGLELEPEEPPGWRELVPPDTLHSLPKSQVKRQEV
ISELLVTEAAHVRMLRVLHDLFFQPMAECLFFPLEELQNIFPSLDELIEVHSLFLDRLMK
RRQESGYLIEEIGDVLLARFDGAEGSWFQKISSRFCSRQSFALEQLKAKQRKDPRFCAFV
QEAESRPRCRRLQLKDMIPTEMQRLTKYPLLLQSIGQNTEEPTEREKVELAAECCREILH
HVNQAVRDMEDLLRLKDYQRRLDLSHLRQSSDPMLSEFKNLDITKKKLVHEGPLTWRVTK
DKAVEVHVLLLDDLLLLLQRQDERLLLKSHSRTLTPTPDGKTMLRPVLRLTSAMTREVAT
DHKAFYVLFTWDQEAQIYELVAQTVSERKNWCALITETAGSLKVPAPASRPKPRPSPSST
REPLLSSSENGNGGRETSPADARTERILSDLLPFCRPGPEGQLAATALRKVLSLKQLLFP
AEEDNGAGPPRDGDGVPGGGPLSPARTQEIQENLLSLEETMKQLEELEEEFCRLRPLLSQ
LGGNSVPQPGCT

Sequence length

912

Interactions

View interactions

	KEGG		Reactome
	Vascular smooth muscle contraction Platelet activation Regulation of actin cytoskeleton Parathyroid hormone synthesis, secretion and action Pathogenic Escherichia coli infection Yersinia infection Human cytomegalovirus infection Pathways in cancer Proteoglycans in cancer Lipid and atherosclerosis		NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs375845591, rs200213676	RCV005912669 RCV005925777
ARHGEF1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs181351585, rs200492200, rs28396197, rs2288509, rs41303849, rs201322553, rs533164272, rs35481465, rs11083640, rs41307033, rs149372116, rs11879368, rs199751095, rs535083562, rs201880696 View all (4 more)	RCV003938797 RCV003931023 RCV003980510 RCV003980577 RCV003921088 RCV003948558 RCV003940973 RCV003966070 RCV003921115 RCV003921166 RCV003931093 RCV003921116 RCV003913347 RCV003958664 RCV003943589 RCV003939174 RCV003949062 RCV003949389 RCV003905827
Clear cell carcinoma of kidney	Likely benign; Benign	rs375845591, rs200213676, rs1366021947	RCV005912670 RCV005925778 RCV005928342
Colon adenocarcinoma	Uncertain significance	rs368319532	RCV005925418
Immunodeficiency 62	Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records	rs201978240, rs201127336, rs375950739, rs2513761262, rs2513786999, rs1568815169, rs1568822574	RCV005630999 RCV003136231 RCV005362963 RCV003130918 RCV003142486 RCV000782183 RCV000782184
Lung cancer	Likely benign	rs375845591	RCV005912672
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs374431812	RCV005925779
Ovarian serous cystadenocarcinoma	Likely benign	rs375845591	RCV005912671

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	25620680
Bicuspid Aortic Valve Disease	Associate	36071494
Bronchiectasis	Associate	30521495
Developmental Disabilities	Associate	34914033
Diabetes Mellitus	Associate	30200077
Immunologic Deficiency Syndromes	Associate	30521495, 30714991
Leukemia	Associate	30568170
Leukocyte adhesion deficiency type 1	Associate	19234463
Primary Immunodeficiency Diseases	Associate	30714991
Respiratory Tract Infections	Associate	30521495

ARHGEF1 (Rho guanine nucleotide exchange factor 1)