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GRAF (GTPase activating protein for Rho associated with FAK)

Identity

Other namesKIAA0621
OPHN1L
HGNC (Hugo) ARHGAP26
Location 5q31
Location_base_pair Starts at 142130476 and ends at 142588764 bp from pter ( according to hg18-Mar_2006)  [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
    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
    HGNC (Hugo)ARHGAP26   17073
    Entrez_Gene (NCBI)ARHGAP26  23092  Rho GTPase activating protein 26
    Cards
    AtlasGRAFID291
    GeneCards (Weizmann)ARHGAP26
    Ensembl (Hinxton)ENSG00000145819 [Gene_View]  ARHGAP26 [Vega]
    AceView (NCBI)ARHGAP26
    Genatlas (Paris)ARHGAP26
    euGene (Indiana)23092
    SOURCE (Stanford)NM_001135608 NM_015071
    Genomic and cartography
    GoldenPath (UCSC)ARHGAP26  -  5q31   chr5:142130476-142588764 +  5q31   [Description]    (hg18-Mar_2006)
    EnsemblARHGAP26 - 5q31 [CytoView]
    Mapping of homologs : NCBIARHGAP26 [Mapview]
    OMIM605370   607785   
    Gene and transcription
    Gene : Genbank (Entrez)AB014521 AK092488 AK095220 AK123519 AK124521
    Reference sequence (RefSeq transcript) :SRSNM_001135608 NM_015071
    Reference transcript : EntrezNM_001135608 NM_015071
    RefSeq genomic : SRSAC_000048 AC_000137 NC_000005 NT_029289 NW_001838953 NW_922784
    RefSeq genomic : EntrezAC_000048 AC_000137 NC_000005 NT_029289 NW_001838953 NW_922784
    Consensus coding sequences : CCDS NCBIARHGAP26
    Cluster EST : UnigeneHs.654668 [ SRS ] Hs.654668 [ NCBI ]
    Alternative Splicing : Fast-db (Paris)11495
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtQ9UNA1 (SRS) Q9UNA1 (Expasy) Q9UNA1 (Uniprot)
    With graphics : InterProQ9UNA1
    Splice isoforms : VarSplice FASTAQ9UNA1(VarSplice FASTA)
    Domaine pattern : Prosite (SRS)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domain pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    Domains : Interpro (SRS)PH    RhoGAP    SH3   
    Domains : Interpro (EBI)PH    RhoGAP    SH3   
    Related proteins : CluSTrQ9UNA1
    Domain families : Pfam SRSPH (PF00169)    RhoGAP (PF00620)    SH3_1 (PF00018)   
    Domain families : Pfam SangerPH (PF00169)    RhoGAP (PF00620)    SH3_1 (PF00018)   
    Domain families : Pfam NCBIpfam00169    pfam00620    pfam00018   
    Domain families : Smart EMBLPH (SM00233)RhoGAP (SM00324)SH3 (SM00326)
    Domain structure : Prodom (Prabi Lyon)SH3 (PD000066)   
    Blocks (Seattle)Q9UNA1
    Crystal structure of protein : PDB SRS1UGV   
    Crystal structure of protein : PDBSum1UGV   
    Crystal structure of protein : IMB1UGV   
    Crystal structure of protein : PDB RSDB1UGV   
    HPRD05643
    Protein Interaction databases
    DIP (DOE-UCLA)Q9UNA1
    IntAct (EBI)Q9UNA1
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBIARHGAP26
    SNP : GeneSNP UtahARHGAP26
    SNP : HGBaseARHGAP26
    Genetic variants : HAPMAPARHGAP26
    Somatic Mutations in Cancer : COSMICARHGAP26 
    Translocation Breakpoints in Cancer : TICdbARHGAP26 
    Mutations and Diseases : HGMDARHGAP26
    Hereditary diseases : OMIM605370    607785   
    Hereditary diseases : GENETests605370    607785   
    Diseases : Genetic AssociationARHGAP26
    General knowledge
    Homologs : HomoloGeneARHGAP26
    Homology/Alignments : Family Browser UCSCARHGAP26
    Phylogenetic Trees/Animal Genes : TreeFamARHGAP26
    Chemical/Protein Interactions : CTD23092
    Keywords Ontology : AmiGOGTPase activator activity  Rho GTPase activator activity  protein binding  cellular_component  intracellular  cytoplasm  cytoskeleton  signal transduction  nervous system development  actin cytoskeleton organization  cell junction  
    Keywords Ontology : EGO-EBIGTPase activator activity  Rho GTPase activator activity  protein binding  cellular_component  intracellular  cytoplasm  cytoskeleton  signal transduction  nervous system development  actin cytoskeleton organization  cell junction  
    Pathways : BIOCARTA
    Pathways : KEGG
    Other databases
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    Probes : ImagenesARHGAP26 Related clones (RZPD - Berlin)
    Literature
    PubMed13 Pubmed reference(s) in Entrez
    PubGeneARHGAP26

    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

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    indexed on : Sat Jun 27 16:41:59 CEST 2009
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