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ARHGAP20 (Rho GTPase activating protein 20)

Identity

Other namesKIAA1391
RARHOGAP
HGNC (Hugo) ARHGAP20
LocusID (NCBI) 57569
Location 11q23.1
Location_base_pair Starts at 110447766 and ends at 110583451 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order telomeric to ATM

DNA/RNA

 
  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).
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.

Protein

 
  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.
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.

Mutations

Note Single nucleotide polymorphism 1785T/C (transcript variant ARHGAP20-1ad, AY496263).
Germinal None detected.
Somatic In the tumour cells of one case of B-cell chronic lymphocytic leukemia, the missense mutation 2995T>G (S999A; transcript variant ARHGAP20-1ad, AY496263) was found.

Implicated in

Entity B-cell chronic lymphocytic leukemia (B-CLL).
Note In the tumour cells of two B-CLL cases, ARHGAP20 was found affected by translocations that rearranged the gene with BRWD3 (Xq21) and a novel gene on 13q14 (unpublished data), respectively. No fusion transcripts were generated. ARHGAP20 transcript expression is significantly upregulated in B-CLL lymphocytes vs. CD19+ control B cells.
  
Entity t(X;11)(q21;q23)
Disease B-cell chronic lymphocytic leukemia (B-CLL).
Cytogenetics t(X;11)(q21;q23)
Hybrid/Mutated Gene ARHGAP20 - BRWD3
Abnormal Protein None detected.
  
Entity t(11;13)(q23;q14)
Disease B-cell chronic lymphocytic leukemia (B-CLL).
Cytogenetics t(11;13)(q23;14)
Hybrid/Mutated Gene ARHGAP20 - novel gene on 13q14 (unpublished data)
Abnormal Protein None detected.
  

External links

Nomenclature
HGNC (Hugo)ARHGAP20   18357
Entrez_Gene (NCBI)ARHGAP20  57569  Rho GTPase activating protein 20
Cards
AtlasARHGAP20ID42979ch11q23
GeneCards (Weizmann)ARHGAP20
Ensembl (Hinxton)ENSG00000137727 [Gene_View]  chr11:110447766-110583451 [Contig_View]  ARHGAP20 [Vega]
AceView (NCBI)ARHGAP20
Genatlas (Paris)ARHGAP20
euGene (Indiana)57569
SOURCE (Stanford)NM_020809
Genomic and cartography
GoldenPath (UCSC)ARHGAP20  -  11q23.1   chr11:110447766-110583451 -  11q23.1   [Description]    (hg19-Feb_2009)
EnsemblARHGAP20 - 11q23.1 [CytoView]
Mapping of homologs : NCBIARHGAP20 [Mapview]
OMIM609568   
Gene and transcription
Genbank (Entrez)AB037812 AI936560 AK292290 AK307602 AY496263
RefSeq transcript (SRS)NM_020809
RefSeq transcript (Entrez)NM_020809
RefSeq genomic (SRS)AC_000143 NC_000011 NT_033899 NW_001838042
RefSeq genomic (Entrez)AC_000143 NC_000011 NT_033899 NW_001838042
Consensus coding sequences : CCDS (NCBI)ARHGAP20
Cluster EST : UnigeneHs.6136 [ SRS ] Hs.6136 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13700
Alternative Splicing GalleryENSG00000137727
Gene ExpressionARHGAP20 [ NCBI-GEO ]   ARHGAP20 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2F6 (SRS) Q9P2F6 (Uniprot)
With graphics : InterProQ9P2F6
Splice isoforms : SwissVarQ9P2F6(Swissvar)
Domaine pattern : Prosite (SRS)PH_DOMAIN (PS50003)    RA (PS50200)    RHOGAP (PS50238)   
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RA (PS50200)    RHOGAP (PS50238)   
Domains : Interpro (SRS)PH_like_dom    Pleckstrin_homology    Ras-assoc    Rho_GTPase_activation_prot    RhoGAP_dom   
Domains : Interpro (EBI)PH_like_dom    Pleckstrin_homology    Ras-assoc    Rho_GTPase_activation_prot    RhoGAP_dom   
Related proteins : CluSTrQ9P2F6
Domain families : Pfam (SRS)RA (PF00788)    RhoGAP (PF00620)   
Domain families : Pfam (Sanger)RA (PF00788)    RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam00788    pfam00620   
Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  
Blocks (Seattle)Q9P2F6
PDB (SRS)3MSX   
PDB (PDBSum)3MSX   
PDB (IMB)3MSX   
PDB (RSDB)3MSX   
Human Protein AtlasENSG00000137727
HPRD10657
IPIIPI00012622   IPI00478558   IPI00844419   IPI00844483   IPI00844252   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2F6
IntAct (EBI)Q9P2F6
FunCoupENSG00000137727
REACTOMEARHGAP20
BioGRIDARHGAP20
InParanoidQ9P2F6
Interologous Interaction database Q9P2F6
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ARHGAP20
SNP (GeneSNP Utah)ARHGAP20
SNP : HGBaseARHGAP20
Genetic variants : HAPMAPARHGAP20
Somatic Mutations in Cancer : COSMICARHGAP20 
CONAN: Copy Number AnalysisARHGAP20 
Translocation Breakpoints in Cancer : TICdbARHGAP20 
Mutations and Diseases : HGMDARHGAP20
OMIM609568   
GENETests609568   
Disease Genetic AssociationARHGAP20
Huge Navigator ARHGAP20 [HugePedia]  ARHGAP20 [HugeCancerGEM]
Genomic VariantsARHGAP20
snp3D : Map Gene to Disease57569
General knowledge
Homologs : HomoloGeneARHGAP20
Homology/Alignments : Family Browser (UCSC)ARHGAP20
Phylogenetic Trees/Animal Genes : TreeFamARHGAP20
Chemical/Protein Interactions : CTD57569
Chemical/Pharm GKB GenePA134963885
Clinical trialARHGAP20
Cancer Resource (Charite)ENSG00000137727
Ontology : AmiGOGTPase activator activity  intracellular  cytosol  signal transduction  small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIGTPase activator activity  intracellular  cytosol  signal transduction  small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  
Other databases
Probes
Probes : ImagenesARHGAP20 Related clones (RZPD - Berlin)
Litterature
PubMed10 Pubmed reference(s) in Entrez
PubGeneARHGAP20
iHOPARHGAP20

Bibliography

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2006Claudia Kalla
DKFZ, Div. Molecular Genetics (B060), Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany

Citation

This paper should be referenced as such :
Kalla C . ARHGAP20 (Rho GTPase activating protein 20). Atlas Genet Cytogenet Oncol Haematol. August 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/ARHGAP20ID42979ch11q23.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38373/1/08-2006-ARHGAP20ID42979ch11q23.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:00:58 CEST 2012

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