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| | Genomic organization (A) and transcript variants (B) of ARHGAP20. (A) Gene structure (drawn to scale): black boxes represent exons. (B) Transcripts (drawn to scale): boxes, exons; UTR, untranslated region; light shaded box, coding region; shaded and dark shaded boxes, nucleotide sequences coding for protein domains (PH: pleckstrin homology domain, RA: ras association domain; RhoGAP: RhoGAP domain). |
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| Description | 19 exons spanning 136.1 kb genomic DNA. |
| Transcription | 5.9-6.2 kb mRNA, coding sequence: 3.5-3.6 kb Alternative splicing of the first 5 exons results in the expression of 5 transcript variants (ARHGAP20-1e, ARHGAP20-1d, ARHGAP20-1ad, ARHGAP20-1be, ARHGAP20-1c). |
| Pseudogene | None. |
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| | Schematic representation of ARHGAP20 protein variants as deduced from the transcripts. Hatched box, amino-terminal extension of unknown function; PH: pleckstrin homology domain, RA: ras association domain; RhoGAP: RhoGAP domain. |
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| Description | The amino-terminal region shows significant homology to a pleckstrin homology (PH) domain commonly found in eukaryotic signaling proteins. Adjacent to the PH domain a Ras association (RA) domain is postulated, which is found in proteins involved in GTPase-mediated signaling processes. The central section of the protein contains a RhoGAP domain, which is crucial for the regulation of Rho-like GTPases by Rho GTPase-activating proteins in the course of transmitting diverse intracellular signals. |
| Expression | Predominantly expressed in brain, but transcripts were also detected in peripheral blood lymphocytes. |
| Localisation | Cytoplasm |
| Function | The presence of a RhoGAP domain in combination with PH and RA modules indicates that ARHGAP20 is involved in the regulation of Rho-family GTPases. ARHGAP20 was shown to be activated by Rap1 and to induce inactivation of Rho, resulting in the neurite outgrowth. |
| Homology | Mouse: RarhoGAP (RhoGAP having the RA domain), Arhgap20. Rat: RahoGAP (RhoGAP having the RA domain), Arhgap20. |
| Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. |
| Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O |
| DNA research : an international journal for rapid publication of reports on genes and genomes. 2000 ; 7 (1) : 65-73. |
| PMID 10718198 |
| |
| Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. |
| Katoh M, Katoh M |
| International journal of oncology. 2003 ; 23 (5) : 1471-1476. |
| PMID 14532992 |
| |
| Identification of RARhoGAP, a novel putative RhoGAP gene expressed in male germ cells. |
| Curry BJ, Su H, Law EG, McLaughlin EA, Nixon B, Aitken RJ |
| Genomics. 2004 ; 84 (2) : 406-418. |
| PMID 15234003 |
| |
| Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. |
| Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dhner H, Stilgenbauer S, Lichter P |
| Genes, chromosomes & cancer. 2005 ; 42 (2) : 128-143. |
| PMID 15543602 |
| |
| RA-RhoGAP, Rap-activated Rho GTPase-activating protein implicated in neurite outgrowth through Rho. |
| Yamada T, Sakisaka T, Hisata S, Baba T, Takai Y |
| The Journal of biological chemistry. 2005 ; 280 (38) : 33026-33034. |
| PMID 16014623 |
| |