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FLASH GENE
Symbol RAPH1 contributors: mct - updated : 14-01-2015
HGNC name Ras association (RalGDS/AF-6)and plekstrin homology 1
HGNC id 14436
Location 2q33.2      Physical location : 204.298.540 - 204.400.058
Synonym name
  • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9
  • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18
  • lamellipodin
  • proline rich EVH1 ligand 2
  • Synonym symbol(s) ALS2CR9, ALS2CR18, KIAA168, 1LPD, PREL2, RMO1, RalGDS/AF-6
    DNA
    TYPE functioning gene
    STRUCTURE 101.65 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 9749 - 1250 - 2005 15609301
    - - 2394 - 649 - 2005 15609301
    - - 2782 - 644 - 2005 15609301
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Nervousnerve   highly
    Respiratorylung   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • RalGDS/AF-6 and plekstrin (PH) homology domains
  • a Ras-associating domain
  • HOMOLOGY
    Homologene
    FAMILY MRL family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • RAPH1 localizes with SRGAP3 at the leading edge
  • basic FUNCTION
  • mediator of localized membrane signals
  • implicated in the regulation of lamellipodial
  • dynamics
  • negatively regulating cell adhesion
  • required for both basal and MRAS-mediated dendrite development
  • PI(3,4)P&
  • 8322;, RAPH1, and ENA/VASP are involved in the process movement of multipolar migrating cells 8)
  • modulates the assembly of actin cytoskeleton through its binding to the ENA/VASPs proteins, and acts in cellular motility and lamelipodial protrusion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NPHS1 recruits and regulates a protein complex that includes INPPL1, FLNA and RAPH1, proteins important in regulation of actin and focal adhesion dynamics, as well as lamellipodia formation
  • is a novel effector of MRAS in dendrites
  • RAPH1 directly binds active RAC1, which regulates a direct interaction between RAPH1 and the WASF1 complex via ABI1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in metastatic osteosarcomas
    tumoral     --low  
    in breast and ovarian carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS