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GRAF (GTPase activating protein for Rho associated with FAK)

Identity

Other namesKIAA0621
OPHN1L
HGNC ARHGAP26
Location 5q31
Location_base_pair Starts at 142130476 and ends at 142588765 bp from pter ( according to hg18-Mar_2006).
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
    Disease acute non lymphocytic leukemia and myelodysplastic syndrome with del(5q)
    Prognosis unknown; only a few cases unknown
    Cytogenetics del(5q)
    Hybrid/Mutated Gene 5' MLL 3' GRAF
    Abnormal Protein MLL-GRAF
    Oncogenesis basically unknown; a bi-allelic loss of GRAF has been documented in three cases of ANLL
      

    External links

    Nomenclature
    HGNCARHGAP26   17073
    Entrez_GeneARHGAP26  23092  Rho GTPase activating protein 26
    Cards
    AtlasGRAFID291
    GeneCardsARHGAP26
    EnsemblARHGAP26 [Search_View]   ENSG00000145819 [Gene_View]  ARHGAP26 [Vega]
    GenatlasARHGAP26
    GeneLynxARHGAP26
    eGenomeARHGAP26
    euGene23092
    Genomic and cartography
    GoldenPathARHGAP26  -  5q31   chr5:142130476-142588765 +  5q31   [Description]    (hg18-Mar_2006)
    EnsemblARHGAP26 - 5q31 [CytoView]
    NCBIMapview
    OMIMDisease map [OMIM]
    HomoloGeneARHGAP26
    Gene and transcription
    GenbankAB014521 [ ENTREZ ]
    GenbankAK092488 [ ENTREZ ]
    GenbankAK095220 [ ENTREZ ]
    GenbankAK123519 [ ENTREZ ]
    GenbankAK124521 [ ENTREZ ]
    RefSeqNM_015071 [ SRS ]    NM_015071 [ ENTREZ ]
    RefSeqAC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
    RefSeqAC_000137 [ SRS ]    AC_000137 [ ENTREZ ]
    RefSeqNC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
    RefSeqNT_029289 [ SRS ]    NT_029289 [ ENTREZ ]
    RefSeqNW_001838953 [ SRS ]    NW_001838953 [ ENTREZ ]
    RefSeqNW_922784 [ SRS ]    NW_922784 [ ENTREZ ]
    CCDSARHGAP26 CCDS - NCBI
    AceViewARHGAP26 AceView - NCBI
    UnigeneHs.654668 [ SRS ]    Hs.654668 [ NCBI ]     HS654668 [ spliceNest ]
    Fast-db11495 (alternative variants)
    Protein : pattern, domain, 3D structure
    SwissProtQ5D035 [ SRS]    Q5D035 [ EXPASY ]     Q5D035 [ INTERPRO ]     Q5D035 [ UNIPROT ] Q5D035 [ VarSplice ]
    PrositePS00290 IG_MHC [ SRS ]    PS00290 IG_MHC [ Expasy ]
    PrositePS50003 PH_DOMAIN [ SRS ]    PS50003 PH_DOMAIN [ Expasy ]
    PrositePS50238 RHOGAP [ SRS ]    PS50238 RHOGAP [ Expasy ]
    PrositePS50002 SH3 [ SRS ]    PS50002 SH3 [ Expasy ]
    InterproIPR003006 Ig/MHC_CS [ SRS ]    IPR003006 Ig/MHC_CS [ EBI ]
    InterproIPR001849 PH [ SRS ]    IPR001849 PH [ EBI ]
    InterproIPR011993 PH_type [ SRS ]    IPR011993 PH_type [ EBI ]
    InterproIPR000198 RhoGAP [ SRS ]    IPR000198 RhoGAP [ EBI ]
    InterproIPR001452 SH3 [ SRS ]    IPR001452 SH3 [ EBI ]
    CluSTrQ5D035
    PfamPF00169 PH [ SRS ]    PF00169 PH [ Sanger ]    pfam00169 [ NCBI-CDD ]
    PfamPF00620 RhoGAP [ SRS ]    PF00620 RhoGAP [ Sanger ]    pfam00620 [ NCBI-CDD ]
    PfamPF00018 SH3_1 [ SRS ]    PF00018 SH3_1 [ Sanger ]    pfam00018 [ NCBI-CDD ]
    SmartSM00233 PH [EMBL]
    SmartSM00324 RhoGAP [EMBL]
    SmartSM00326 SH3 [EMBL]
    ProdomPD000066 SH3[INRA-Toulouse]
    ProdomQ5D035 Q5D035_HUMAN [ Domain structure ]   Q5D035 Q5D035_HUMAN  [ sequences sharing at least 1 domain ]
    BlocksQ5D035
    HPRD05643
    Protein Interaction databases
    DIPQ5D035
    IntActQ5D035
    Polymorphism : SNP, mutations, diseases
    OMIM605370;607785    [ map ]   
    GENECLINICS605370;607785
    SNPARHGAP26 [dbSNP-NCBI]  
    SNPNM_015071 [SNP-NCI]  
    SNPARHGAP26 [GeneSNPs - Utah]  ARHGAP26] [HGBASE - SRS]
    HAPMAPARHGAP26 [HAPMAP]  
    COSMICARHGAP26 [Somatic mutation (COSMIC-CGP-Sanger)]  
    TICdbARHGAP26 [Translocation breakpoints In Cancer]  
    HGMDARHGAP26
    Genetic AssociationARHGAP26
    CDC HuGEARHGAP26
    General knowledge
    Family BrowserARHGAP26 [UCSC Family Browser]
    SOURCENM_015071
    SMDHs.654668
    SAGEHs.654668
    GOGTPase activator activity [Amigo]  GTPase activator activity
    GORho GTPase activator activity [Amigo]  Rho GTPase activator activity
    GOprotein binding [Amigo]  protein binding
    GOcellular_component [Amigo]  cellular_component
    GOintracellular [Amigo]  intracellular
    GOsignal transduction [Amigo]  signal transduction
    GOnervous system development [Amigo]  nervous system development
    GOactin cytoskeleton organization and biogenesis [Amigo]  actin cytoskeleton organization and biogenesis
    PubGeneARHGAP26
    TreeFamARHGAP26
    CTD23092 [Comparative ToxicoGenomics Database]
    Other databases
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    ProbeARHGAP26 Related clones (RZPD - Berlin)
    PubMed
    PubMed12 Pubmed reference(s) in Entrez

    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 . GRAF (GTPase activating protein for Rho associated with FAK). Atlas Genet Cytogenet Oncol Haematol. November 2000 .
    URL : http://AtlasGeneticsOncology.org/Genes/GRAFID291.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sun Nov 9 19:41:22 2008

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