Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9138
Gene name Gene Name - the full gene name approved by the HGNC.
Rho guanine nucleotide exchange factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGEF1
Synonyms (NCBI Gene) Gene synonyms aliases
GEF1, IMD62, LBCL2, LSC, P115-RHOGEF, SUB1.5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD62
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1568815169 C>T Pathogenic Coding sequence variant, stop gained
rs1568822574 G>T Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
HOXA5 Activation 17379095
HOXA9 Activation 17379095
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 12681510, 20300064, 25416956
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601855 681 ENSG00000076928
Protein
UniProt ID 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
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVR
TKSGDKKS
GRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATD
RKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETESPEPGDEGEPGRSGLELEPEEPPGWRELVPPDTLHSLPKSQVKRQEV
ISELLVTEAAHVRMLRVLHDLFFQPMAECLFFPLEELQNIFPSLDELIEVHSLFLDRLMK
RRQESGYLIEEIGDVLLARFDGAEGSWFQKISSRFCSRQSFALEQLKAKQRKDPRFCAFV
QEAESRPRCRRLQLKDMIPTEMQRLTKYPLLLQSIGQNTEEPTEREKVELAAECCREILH
HVN
QAVRDMEDLLRLKDYQRRLDLSHLRQSSDPMLSEFKNLDITKKKLVHEGPLTWRVTK
DKAVEVHVLLLDDLLLLLQRQDERLLLKSHSRTLTPTPDGKTMLRPVLRLTSAMTREVAT
DHKAFYVLFTWDQEAQIYELVAQTVSERKNWCALITETAG
SLKVPAPASRPKPRPSPSST
REPLLSSSENGNGGRETSPADARTERILSDLLPFCRPGPEGQLAATALRKVLSLKQLLFP
AEEDNGAGPPRDGDGVPGGGPLSPARTQEIQENLLSLEETMKQLEELEEEFCRLRPLLSQ
LGGNSVPQPGCT
Sequence length 912
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 62 GenCC
Associations from Text Mining
Disease Name Relationship Type References
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