ARHGEF1
entrez
9138
canonical
uniprot
Q92888
canonical
ensembl
ENSG00000076928
resolver
ensp
ENSP00000337261
resolver
ensp
ENSP00000344429
resolver
ensp
ENSP00000346532
resolver
ensp
ENSP00000367394
resolver
ensp
ENSP00000470715
resolver
ensp
ENSP00000514042
resolver
ensp
ENSP00000524415
resolver
ensp
ENSP00000623344
resolver
ensp
ENSP00000660876
resolver
ensp
ENSP00000719814
resolver
enst
ENST00000599846
resolver
enst
ENST00000854356
resolver
genesymbol
ARHGEF1
resolver
hgnc
HGNC:681
resolver
uniprot
M0QZR4
resolver
uniprot
O00513
resolver
uniprot
Q6NX52
resolver
uniprot
Q8N4J4
resolver
uniprot
Q96BF4
resolver
uniprot
Q96F17
resolver
uniprot
Q9BSB1
resolver
uniprot_entry
ARHG1_HUMAN
resolver
uniprot_entry
M0QZR4_HUMAN
resolver
uniprot_sec
O00513
resolver
uniprot_sec
Q6NX52
resolver
uniprot_sec
Q8N4J4
resolver
uniprot_sec
Q96BF4
resolver
uniprot_sec
Q96F17
resolver
uniprot_sec
Q9BSB1
resolver
amino_acid_sequence
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETESPEPGDEGEPGRSGLELEPEEPPGWRELVPPDTLHSLPKSQVKRQEVISELLVTEAAHVRMLRVLHDLFFQPMAECLFFPLEELQNIFPSLDELIEVHSLFLDRLMKRRQESGYLIEEIGDVLLARFDGAEGSWFQKISSRFCSRQSFALEQLKAKQRKDPRFCAFVQEAESRPRCRRLQLKDMIPTEMQRLTKYPLLLQSIGQNTEEPTEREKVELAAECCREILHHVNQAVRDMEDLLRLKDYQRRLDLSHLRQSSDPMLSEFKNLDITKKKLVHEGPLTWRVTKDKAVEVHVLLLDDLLLLLQRQDERLLLKSHSRTLTPTPDGKTMLRPVLRLTSAMTREVATDHKAFYVLFTWDQEAQIYELVAQTVSERKNWCALITETAGSLKVPAPASRPKPRPSPSSTREPLLSSSENGNGGRETSPADARTERILSDLLPFCRPGPEGQLAATALRKVLSLKQLLFPAEEDNGAGPPRDGDGVPGGGPLSPARTQEIQENLLSLEETMKQLEELEEEFCRLRPLLSQLGGNSVPQPGCT
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 62 (IMD62) [MIM:618459]: An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. {ECO:0000269|PubMed:30521495}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:30521495, PubMed:8810315, PubMed:9641915, PubMed:9641916). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430). In lymphoid follicles, may trigger activation of GNA13 as part of S1PR2-dependent signaling pathway that leads to inhibition of germinal center (GC) B cell growth and migration outside the GC niche. {ECO:0000250|UniProtKB:Q61210, ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:30521495, ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9641915, ECO:0000269|PubMed:9641916}.
uniprot
proteins
mass_dalton
102435
uniprot
proteins
mutagenesis
MUTAGEN 487; /note="Y->F: No effect."; /evidence="ECO:0000269|PubMed:20098430"; MUTAGEN 738; /note="Y->F: Lowers the exchange activity."; /evidence="ECO:0000269|PubMed:20098430
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2. {ECO:0000269|PubMed:12754211, ECO:0000269|PubMed:20098430}.
uniprot
proteins
pubmed
10747909
uniprot
proteins
pubmed
11524686
uniprot
proteins
pubmed
12270917
uniprot
proteins
pubmed
12754211
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20098430
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30521495
uniprot
proteins
pubmed
8810315
uniprot
proteins
pubmed
9135076
uniprot
proteins
pubmed
9641915
uniprot
proteins
pubmed
9641916
uniprot
proteins
sequence_length
912
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10747909}. Membrane {ECO:0000269|PubMed:10747909}. Note=Translocated to the membrane by activated GNA13 or LPA stimulation.
uniprot
proteins