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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.
      

    Other Leukemias implicated (Data extracted from papers in the Atlas)

    Leukemias 11q23ChildAMLID1615 11q23ID1030

    External links

    Nomenclature
    HGNC (Hugo)ARHGAP26   17073
    Cards
    AtlasGRAFID291
    Entrez_Gene (NCBI)ARHGAP26  23092  Rho GTPase activating protein 26
    GeneCards (Weizmann)ARHGAP26
    Ensembl (Hinxton)ENSG00000145819 [Gene_View]  chr5:142150292-142608572 [Contig_View]  ARHGAP26 [Vega]
    ICGC DataPortalENSG00000145819
    AceView (NCBI)ARHGAP26
    Genatlas (Paris)ARHGAP26
    WikiGenes23092
    SOURCE (Princeton)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 (Entrez)NM_001135608 NM_015071
    RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_016711 NT_029289 NW_001838953 NW_004929324
    Consensus coding sequences : CCDS (NCBI)ARHGAP26
    Cluster EST : UnigeneHs.654668 [ NCBI ]
    CGAP (NCI)Hs.654668
    Alternative Splicing : Fast-db (Paris)GSHG0024332
    Alternative Splicing GalleryENSG00000145819
    Gene ExpressionARHGAP26 [ NCBI-GEO ]     ARHGAP26 [ SEEK ]   ARHGAP26 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9UNA1 (Uniprot)
    NextProtQ9UNA1  [Medical]
    With graphics : InterProQ9UNA1
    Splice isoforms : SwissVarQ9UNA1 (Swissvar)
    Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)   
    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 (Sanger)IMD (PF08397)    RhoGAP (PF00620)    SH3_9 (PF14604)   
    Domain families : Pfam (NCBI)pfam08397    pfam00620    pfam14604   
    Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  SH3 (SM00326)  
    DMDM Disease mutations23092
    Blocks (Seattle)Q9UNA1
    PDB (SRS)1UGV   
    PDB (PDBSum)1UGV   
    PDB (IMB)1UGV   
    PDB (RSDB)1UGV   
    Human Protein AtlasENSG00000145819
    Peptide AtlasQ9UNA1
    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
    BioGRIDARHGAP26
    IntegromeDBARHGAP26
    STRING (EMBL)ARHGAP26
    Ontologies - Pathways
    QuickGOQ9UNA1
    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  
    REACTOMEQ9UNA1 [protein]
    REACTOME PathwaysREACT_111102 Signal Transduction [pathway]
    Protein Interaction DatabaseARHGAP26
    Wikipedia pathwaysARHGAP26
    Gene fusion - rearrangments
    Rearrangement : TICdbKMT2A [11q23.3]  -  ARHGAP26 [11q21]
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)ARHGAP26
    SNP (GeneSNP Utah)ARHGAP26
    SNP : HGBaseARHGAP26
    Genetic variants : HAPMAPARHGAP26
    1000_GenomesARHGAP26 
    ICGC programENSG00000145819 
    CONAN: Copy Number AnalysisARHGAP26 
    Somatic Mutations in Cancer : COSMICARHGAP26 
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    DECIPHER (Syndromes)5:142150292-142608572
    Mutations and Diseases : HGMDARHGAP26
    OMIM605370    607785   
    MedgenARHGAP26
    GENETestsARHGAP26
    Disease Genetic AssociationARHGAP26
    Huge Navigator ARHGAP26 [HugePedia]  ARHGAP26 [HugeCancerGEM]
    Genomic VariantsARHGAP26  ARHGAP26 [DGVbeta]
    Exome VariantARHGAP26
    dbVarARHGAP26
    ClinVarARHGAP26
    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
    Other databases
    Other databaseHUGE: A Database of Human Unidentified Gene-Encoded Large Proteins
    Probes
    Litterature
    PubMed30 Pubmed reference(s) in Entrez
    CoreMineARHGAP26
    GoPubMedARHGAP26
    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
    GRAF (GTPase activating protein for Rho associated with FAK)
    Atlas Genet Cytogenet Oncol Haematol. 2001;4(1):1-2.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/GRAFID291.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sat Nov 8 16:58:48 CET 2014

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