Description: Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA. RefSeq Summary (NM_005863): This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. Transcript (Including UTRs) Position: hg19 chr10:5,455,752-5,501,019 Size: 45,268 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr10:5,494,833-5,498,957 Size: 4,125 Coding Exon Count: 7
ID:ARHG8_HUMAN DESCRIPTION: RecName: Full=Neuroepithelial cell-transforming gene 1 protein; AltName: Full=Proto-oncogene p65 Net1; AltName: Full=Rho guanine nucleotide exchange factor 8; FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death. SUBUNIT: Interacts with RHOA in its GTP- and GDP-bound states, and with CDC42 in its GTP-bound state. Interacts with the PDZ 1 domain of BAIAP1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). TISSUE SPECIFICITY: Widely expressed. INDUCTION: By TGFB1. Up-regulated by DNA damaging agents like H(2)O(2) or ionizing radiation (IR). SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PH domain. SEQUENCE CAUTION: Sequence=AAB08847.1; Type=Frameshift; Positions=586; Sequence=AAB37683.1; Type=Frameshift; Positions=15, 33; Sequence=CAA08974.1; Type=Frameshift; Positions=8, 55, 59, 70, 586; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/NET1ID41526ch10p15.html";
attention deficit hyperactivity disorder Bobb, A. J. et al. 2005, Support for association between ADHD and two candidate genes: NET1 and DRD1., American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72.
[PubMed 15717291]
This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.
MalaCards Disease Associations
MalaCards Gene Search: NET1 Diseases sorted by gene-association score: breast cancer (3)
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 Q7Z628
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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:0007165 signal transduction GO:0007186 G-protein coupled receptor signaling pathway GO:0035023 regulation of Rho protein signal transduction GO:0035556 intracellular signal transduction GO:0043065 positive regulation of apoptotic process GO:0043547 positive regulation of GTPase activity GO:0051056 regulation of small GTPase mediated signal transduction GO:0051451 myoblast migration GO:0070301 cellular response to hydrogen peroxide GO:0071479 cellular response to ionizing radiation GO:1900026 positive regulation of substrate adhesion-dependent cell spreading