Description: Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. RefSeq Summary (NM_015071): Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]. Transcript (Including UTRs) Position: hg19 chr5:142,150,292-142,608,572 Size: 458,281 Total Exon Count: 23 Strand: + Coding Region Position: hg19 chr5:142,150,327-142,602,011 Size: 451,685 Coding Exon Count: 23
ID:RHG26_HUMAN DESCRIPTION: RecName: Full=Rho GTPase-activating protein 26; AltName: Full=GTPase regulator associated with focal adhesion kinase; AltName: Full=Oligophrenin-1-like protein; AltName: Full=Rho-type GTPase-activating protein 26; FUNCTION: GTPase-activating protein for RHOA and CDC42. SUBUNIT: Interacts with NYAP1, NYAP2 and MYO16 (By similarity). Binds to the C-terminus of PTK2/FAK1. INTERACTION: Q6P5Z2:PKN3; NbExp=4; IntAct=EBI-1390913, EBI-1384335; SUBCELLULAR LOCATION: Cell junction, focal adhesion (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Colocalizes with actin stress fibers and cortical actin structures (By similarity). DISEASE: Defects in ARHGAP26 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Chromosomal translocation t(5;11)(q31;q23) with MLL has been found in a JMML patient. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 Rho-GAP domain. SIMILARITY: Contains 1 SH3 domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GRAFID291.html"; WEB RESOURCE: Name=Wikipedia; Note=Graf1 entry; URL="http://en.wikipedia.org/wiki/Graf1";
Body Height Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Diabetes Mellitus, Type 2 Laura J Scott et al. Science (New York, N.Y.) 2007, A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants., Science (New York, N.Y.).
[PubMed 17463248]
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.
ModBase Predicted Comparative 3D Structure on Q9UNA1
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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:0007165 signal transduction GO:0007399 nervous system development GO:0030036 actin cytoskeleton organization GO:0043547 positive regulation of GTPase activity GO:0051056 regulation of small GTPase mediated signal transduction
US Server
