Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ARHGAP26 contributors: mct - updated : 23-05-2012
HGNC name Rho GTPase activating protein 26
HGNC id 17073
Location 5q31.3      Physical location : 142.150.291 - 142.608.571
Synonym name
  • cDNA sequence,expressed in brain, 87kDa, homolog to chicken Rho-Gap protein
  • oligophrenin-1 like
  • GTPase regulator associated with focal adhesion kinase pp125(FAK)
  • BAR-containing Rho-GTPase-activating Protein (Rho-GAP)
  • Synonym symbol(s) KIAA0621, OPHN1L, GRAF, OPHN1L1, FLJ42530, GRAF1
    DNA
    TYPE functioning gene
    STRUCTURE 458.28 kb     23 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • two putative protein-binding sites are identified of which one was sensitive to CpG methylation
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 8876 - 759 - 1999 9858476
    23 - 9041 - 814 - 1999 9858476
    - - 448 - - predominant brain expression 2010 20602808
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
     mouth   predominantly
     stomach   highly
    Nervousbrain   highly Homo sapiens
     nervecranial nerve  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumcardiac highly Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal nuclear localization signal (NLS)
  • a PH domain
  • a GTPase activating protein (GAP) domain
  • an amphipathic lipid bending/sculpting BAR domain
  • a SH3 C-terminal domain
  • HOMOLOGY
    interspecies homolog to rattus Arhgap26 (97.8 pc)
    homolog to murine Arhgap26 (96.9 pc)
    Homologene
    FAMILY Rho family of GTPase-activating protein (GAP) family
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • acting as a negative regulator of Rho A
  • GAP activity
  • integrin signal transduction pathway
  • might be involved in the pathogenesis of the mental retardation
  • necessary and sufficient for mediating RHOA down-regulation and inducing muscle differentiation
  • might serve as a key regulator of RHOA activity during myogenesis
  • remodels potentially membrane microdomains at adhesion sites into endocytic carriers, facilitating membrane turnover during cell morphological changes
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text
  • nervous system development
  • actin cytoskeleton organization and biogenesis
  • PATHWAY
    metabolism
    signaling signal transduction
  • critical component of the integrin signaling transduction pathway
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to the C-terminal of pp125(FAK)
  • promotes skeletal muscle differentiation by limiting RHOA/ROCK1 signaling
  • interacted with a network of endocytic and adhesion proteins and enriched at podosome-like adhesions and src-induced podosomes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    fusion with MLL in t(5;11)(q31;q23) in myelodysplastic syndrome
    tumoral   deletion    
    deletion in myelodysplastic syndrome
    tumoral       gain of function
    activated in malignant melanoma
    tumoral     --low  
    in myeloid malignancies
    constitutional     --low  
    decreased in ATRX patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • GrafF1-depleted embryos exhibited elevated RhoA activity and defective myofibrillogenesis that resulted in progressive muscle degeneration, defective motility, and embryonic lethality