Homo sapiens Protein: ARHGEF12
Summary
InnateDB Protein IDBP-234420.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARHGEF12
Protein Name Rho guanine nucleotide exchange factor (GEF) 12
Synonyms LARG; PRO2792;
Species Homo sapiens
Ensembl Protein ENSP00000380942
InnateDB Gene IDBG-74643 (ARHGEF12)
Protein Structure
UniProt Annotation
Function May 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:0000269PubMed:11094164}.
Subcellular Localization Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.
Disease Associations Note=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1.
Tissue Specificity Ubiquitously expressed. Isoform 2 is found in jejunum and testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 20 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001664 G-protein coupled receptor binding
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
Biological Process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007411 axon guidance
GO:0032321 positive regulation of Rho GTPase activity
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0038032 termination of G-protein coupled receptor signaling pathway
GO:0043065 positive regulation of apoptotic process
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000219 Dbl homology (DH) domain
IPR001478 PDZ domain
IPR001849 Pleckstrin homology domain
IPR015212 Regulator of G protein signalling-like domain
IPR016137 Regulator of G protein signalling superfamily
PFAM PF00621
PF00595
PF13180
PF00169
PF09128
PRINTS
PIRSF
SMART SM00325
SM00228
SM00233
SM00315
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NZN5
PhosphoSite PhosphoSite-Q9NZN5
TrEMBL E9PMR6
UniProt Splice Variant
Entrez Gene 23365
UniGene Hs.621937
RefSeq NP_056128
HUGO HGNC:14193
OMIM 604763
CCDS CCDS41727
HPRD 09207
IMGT
EMBL AB002380 AF180681 AP000659 AP000758 AP001150 BC063117
GenPept AAF36817 AAH63117 BAA20836