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ARHGAP26 (GTPase activating protein for Rho associated with FAK)

Identity

Other namesGRAF (GTPase activating protein for Rho associated with FAK)
KIAA0621
OPHN1L
HGNC (Hugo) ARHGAP26
LocusID (NCBI) 23092
Location 5q31.3
Location_base_pair Starts at 142150292 and ends at 142608572 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Just centromeric of GRL.

DNA/RNA

Description At least 24 exons.
Transcription Two isoforms of 2277 bp (leukocytes) and 2442 bp (brain); transcripts of 4,4 and 9,5 kb.

Protein

 
Description Isoform A: 759 amino acids, 86 kDa; isoform B: 814 amino acids, 92 kDa.
Expression Highly expressed in epithelial tissues i.e. pancreas islet beta-cells, testicles, prostate, mammary gland, GI glands, squamous layer of skin epithelium; highly expressed in nervous tissues including enteric ganglia; expressed in cardiomyocytes, erythropoiesis cells and liver.
Localisation Mainly cytoplasmatic.
Function Interacts with FAK and RhoA both in vivo and in vitro; acts as GTPase activating protein (GAP) for the active GTP-bound RhoA; negative regulator of RhoA.
Homology Oligophrenin-1, Beta-chimerin, BCR.

Mutations

Germinal Not known
Somatic
  • Deletion of four bases (251-254, A in ATG=nt1)
  • Insert 1158
    GRAF-base 1144, 
     5' 1 TA GAG ACA GGA TTT CAT CAT GTT GGC CAG GTT GGT TTT GAA
     42 TTC CTG ACC TCA AGT GAT CCA CCT GCC TCG GCC TCC CAA AGT
     84 GGT GGG ATT TTG G 3'
     ......GRAF-base 1145
  • Insert 1299
    GRAF-base 1285, 
     5' 1 TC ATC GTT GTC ATA TAA ATC GGC GAG GTA ATA TTC CAT CAG 
     42 GTA GAC ATA CG 3'
     ...GRAF-base 1286.Predicted STOP codon underlined.
  • Insert 2002
    GRAF-base 1988
     5' 1 G GTT CAT GCG AGT TCA GCA AGC AGT TAC CAT GTC TAC GGC
     41 ATG CCA GGA TAC TGT TGG GAA GGT AGT ATT CCG T 3'
     ...GRAF-base 1989

    • Implicated in

    Entity t(5;11)(q31;q23) / acute non lymphocytic leukemia --> MLL - GRAF
    Prognosis Unknown; only a few cases
    Hybrid/Mutated Gene 5' MLL 3' GRAF
    Abnormal Protein MLL-GRAF
      
    Disease Acute non lymphocytic leukemia and myelodysplastic syndrome with del(5q)
    Prognosis Unknown
    Cytogenetics del(5q)
    Oncogenesis Basically unknown; a bi-allelic loss of GRAF has been documented in three cases of ANLL.
      

    External links

    Nomenclature
    HGNC (Hugo)ARHGAP26   17073
    Entrez_Gene (NCBI)ARHGAP26  23092  Rho GTPase activating protein 26
    Cards
    AtlasGRAFID291
    GeneCards (Weizmann)ARHGAP26
    Ensembl (Hinxton)ENSG00000145819 [Gene_View]  chr5:142150292-142608572 [Contig_View]  ARHGAP26 [Vega]
    AceView (NCBI)ARHGAP26
    Genatlas (Paris)ARHGAP26
    SOURCE (Stanford)NM_001135608 NM_015071
    Genomic and cartography
    GoldenPath (UCSC)ARHGAP26  -  5q31.3   chr5:142150292-142608572 +  5q31   [Description]    (hg19-Feb_2009)
    EnsemblARHGAP26 - 5q31 [CytoView]
    Mapping of homologs : NCBIARHGAP26 [Mapview]
    OMIM605370   607785   
    Gene and transcription
    Genbank (Entrez)AB014521 AK092488 AK095220 AK123519 AK124521
    RefSeq transcript (SRS)NM_001135608 NM_015071
    RefSeq transcript (Entrez)NM_001135608 NM_015071
    RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NG_016711 NT_029289 NW_001838953 NW_004078025
    RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_016711 NT_029289 NW_001838953 NW_004078025
    Consensus coding sequences : CCDS (NCBI)ARHGAP26
    Cluster EST : UnigeneHs.654668 [ SRS ] Hs.654668 [ NCBI ]
    CGAP (NCI)Hs.654668
    Alternative Splicing : Fast-db (Paris)GSHG0024332
    Alternative Splicing GalleryENSG00000145819
    Gene ExpressionARHGAP26 [ NCBI-GEO ]   ARHGAP26 [ EBI - ARRAY_EXPRESS ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9UNA1 (SRS) Q9UNA1 (Uniprot)
    NextProtQ9UNA1
    With graphics : InterProQ9UNA1
    Splice isoforms : SwissVarQ9UNA1(Swissvar)
    Domaine pattern : Prosite (SRS)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domains : Interpro (SRS)IRSp53/MIM_homology_IMD    PH_like_dom    Pleckstrin_homology    Rho_GTPase_activation_prot    RhoGAP_dom    SH3_domain   
    Domains : Interpro (EBI)IRSp53/MIM_homology_IMD    PH_like_dom    Pleckstrin_homology    Rho_GTPase_activation_prot    RhoGAP_dom    SH3_domain   
    Related proteins : CluSTrQ9UNA1
    Domain families : Pfam (SRS)IMD (PF08397)    RhoGAP (PF00620)    SH3_1 (PF00018)   
    Domain families : Pfam (Sanger)IMD (PF08397)    RhoGAP (PF00620)    SH3_1 (PF00018)   
    Domain families : Pfam (NCBI)pfam08397    pfam00620    pfam00018   
    Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  SH3 (SM00326)  
    DMDM23092
    Blocks (Seattle)Q9UNA1
    PDB (SRS)1UGV   
    PDB (PDBSum)1UGV   
    PDB (IMB)1UGV   
    PDB (RSDB)1UGV   
    Human Protein AtlasENSG00000145819
    HPRD05643
    IPIIPI00007913   IPI00216360   IPI00903169   IPI01013429   IPI00791808   IPI00792369   IPI00795168   IPI00894083   IPI00892900   IPI00892802   IPI00953710   IPI00916603   IPI00916775   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9UNA1
    IntAct (EBI)Q9UNA1
    FunCoupENSG00000145819
    REACTOMEARHGAP26
    Protein Interaction Database23092
    BioGRIDARHGAP26
    InParanoidQ9UNA1
    Interologous Interaction database Q9UNA1
    IntegromeDBARHGAP26
    Polymorphism : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)ARHGAP26
    SNP (GeneSNP Utah)ARHGAP26
    SNP : HGBaseARHGAP26
    Genetic variants : HAPMAPARHGAP26
    Somatic Mutations in Cancer : COSMICARHGAP26 
    CONAN: Copy Number AnalysisARHGAP26 
    Translocation Breakpoints in Cancer : TICdbARHGAP26 
    Mutations and Diseases : HGMDARHGAP26
    OMIM605370    607785   
    GENETests605370    607785   
    Disease Genetic AssociationARHGAP26
    Huge Navigator ARHGAP26 [HugePedia]  ARHGAP26 [HugeCancerGEM]
    Genomic VariantsARHGAP26  ARHGAP26 [DGVbeta]
    snp3D : Map Gene to Disease23092
    General knowledge
    Homologs : HomoloGeneARHGAP26
    Homology/Alignments : Family Browser (UCSC)ARHGAP26
    Phylogenetic Trees/Animal Genes : TreeFamARHGAP26
    Chemical/Protein Interactions : CTD23092
    Chemical/Pharm GKB GenePA134946198
    Clinical trialARHGAP26
    Cancer Resource (Charite)ENSG00000145819
    Ontology : AmiGORho GTPase activator activity  protein binding  phospholipid binding  cellular_component  cytosol  cytoskeleton  focal adhesion  small GTPase mediated signal transduction  nervous system development  cytoskeletal adaptor activity  SH3 domain binding  actin cytoskeleton organization  positive regulation of Rho GTPase activity  filopodium assembly  regulation of small GTPase mediated signal transduction  
    Ontology : EGO-EBIRho GTPase activator activity  protein binding  phospholipid binding  cellular_component  cytosol  cytoskeleton  focal adhesion  small GTPase mediated signal transduction  nervous system development  cytoskeletal adaptor activity  SH3 domain binding  actin cytoskeleton organization  positive regulation of Rho GTPase activity  filopodium assembly  regulation of small GTPase mediated signal transduction  
    Other databases
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    Litterature
    PubMed25 Pubmed reference(s) in Entrez
    PubGeneARHGAP26
    iHOPARHGAP26

    Bibliography

    The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.
    Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F
    Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (16) : 9168-9173.
    PMID 10908648
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    Contributor(s)

    Written11-2000Stig Bojesen, Arndt Borkhardt
    Dept. clinical biochemistry, Copenhagen Univeristy hospiatl, Rigshospitalet Blegdamsvej 9 DK-2100 Copenhagen, Denmark

    Citation

    This paper should be referenced as such :
    Bojesen SE, Borkhardt A . ARHGAP26 (GTPase activating protein for Rho associated with FAK). Atlas Genet Cytogenet Oncol Haematol. November 2000 .
    URL : http://AtlasGeneticsOncology.org/Genes/GRAFID291.html

    This paper is referenced by INIST as such :
    http://documents.irevues.inist.fr/bitstream/2042/37688/1/11-2000-GRAFID291.pdf   [ Bibliographic record ]

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    indexed on : Wed May 1 13:09:54 CEST 2013
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