MGP Database

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MGP004645

UniProt Annotations

Entry Information
Gene NameRho guanine nucleotide exchange factor (GEF) 12
Protein EntryARHGC_HUMAN
UniProt IDQ9NZN5
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZN5-1; Sequence=Displayed; Name=2; IsoId=Q9NZN5-2; Sequence=VSP_008131; Note=Contains a phosphoserine at position 41.;
DiseaseNote=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1.
FunctionMay play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. {ECO:0000269|PubMed:11094164}.
InteractionP08069:IGF1R; NbExp=7; IntAct=EBI-821440, EBI-475981; P61793:Lpar1 (xeno); NbExp=3; IntAct=EBI-821440, EBI-7512335; P61586:RHOA; NbExp=2; IntAct=EBI-821440, EBI-446668;
Sequence CautionSequence=AAH63117.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
SimilarityContains 1 DH (DBL-homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00062}.
SimilarityContains 1 PDZ (DHR) domain. {ECO:0000255|PROSITE- ProRule:PRU00143}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 RGSL (RGS-like) domain. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.
SubunitInteracts with GNA12 and GNA13, probably through the RGS- like domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts through its PDZ domain with IGF1R beta subunit. Interacts with GCSAM. {ECO:0000269|PubMed:11094164, ECO:0000269|PubMed:11724822, ECO:0000269|PubMed:12183458, ECO:0000269|PubMed:12372594, ECO:0000269|PubMed:15331592, ECO:0000269|PubMed:18411422, ECO:0000269|PubMed:20844236}.
Tissue SpecificityUbiquitously expressed. Isoform 2 is found in jejunum and testis.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LARGID243.html";
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