Description: Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. RefSeq Summary (NM_014784): 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 a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:156,904,632-157,015,162 Size: 110,531 Total Exon Count: 40 Strand: - Coding Region Position: hg19 chr1:156,905,792-157,014,122 Size: 108,331 Coding Exon Count: 40
ID:ARHGB_HUMAN DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 11; AltName: Full=PDZ-RhoGEF; 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. SUBUNIT: Interacts with GNA12 and GNA13 through the RGS domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts with SLC1A6 (By similarity). Interacts (via DH domain) with GCSAM (via C- terminus). INTERACTION: P46108:CRK; NbExp=2; IntAct=EBI-311099, EBI-886; Q8BPM0:Daam1 (xeno); NbExp=3; IntAct=EBI-6169263, EBI-772938; P16333:NCK1; NbExp=3; IntAct=EBI-311099, EBI-389883; P61586:RHOA; NbExp=2; IntAct=EBI-311099, EBI-446668; SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=Translocated to the membrane upon stimulation. TISSUE SPECIFICITY: Ubiquitously expressed. DOMAIN: The poly-Pro region is essential for plasma membrane localization upon stimulation. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PDZ (DHR) domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 RGSL (RGS-like) domain. SEQUENCE CAUTION: Sequence=BAA20834.2; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ARHGEF11 CDC HuGE Published Literature: ARHGEF11 Positive Disease Associations: lung cancer Related Studies:
lung cancer Gu, J. et al. 2006, A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans, Cancer 2006.
[PubMed 16691626]
To the authors knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00595 - PDZ domain (Also known as DHR or GLGF) PF00615 - Regulator of G protein signaling domain PF00621 - RhoGEF domain PF09128 - Regulator of G protein signalling-like domain PF13180 - PDZ domain
ModBase Predicted Comparative 3D Structure on O15085
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001558 regulation of cell growth GO:0006941 striated muscle contraction GO:0007186 G-protein coupled receptor signaling pathway GO:0007266 Rho protein signal transduction GO:0030010 establishment of cell polarity GO:0030036 actin cytoskeleton organization GO:0035023 regulation of Rho protein signal transduction GO:0043065 positive regulation of apoptotic process GO:0043547 positive regulation of GTPase activity GO:0045893 positive regulation of transcription, DNA-templated GO:0051056 regulation of small GTPase mediated signal transduction
US Server
