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FLASH GENE
Symbol DIAPH1 contributors: mct - updated : 31-08-2016
HGNC name diaphanous homolog 1 (Drosophila)
HGNC id 2876
Corresponding disease
DFNA1 neurosensory deafness 1
Location 5q31.3      Physical location : 140.894.588 - 140.998.622
Synonym name
  • diaphanous-related formin 1
  • protein diaphanous homolog 1
  • Synonym symbol(s) LFHL1, hDIA1, DRF1
    DNA
    TYPE functioning gene
    STRUCTURE 104.03 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    PCDHGB5 5q31.3 protocadherin gamma subfamily B, 5 PCDHGA9 5q31.3 protocadherin gamma subfamily A, 9 PCDHGB6 5q31.3 protocadherin gamma subfamily B, 6 PCDHGA10 5q31.3 protocadherin gamma subfamily A, 10 PCDHGB7 5q31.3 protocadherin gamma subfamily B, 7 PCDHGA11 5q31.3 protocadherin gamma subfamily A, 11 PCDHGB8P 5q31.3 protocadherin gamma subfamily B, 8 pseudogene PCDHGA12 5q31.3 protocadherin gamma subfamily A, 12 PCDHGC3 5q31.3 protocadherin gamma subfamily C, 3 PCDHGC4 5q31.3 protocadherin gamma subfamily C, 4 PCDHGC5 5q31.3 protocadherin gamma subfamily C, 5 DIAPH1 5q31-q32 diaphanous homolog 1 (Drosophila)
    regionally located between makers IL9 and GRL
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 5777 - 1263 - 2002 12065429
    27 splicing 5804 - 1272 - 2002 12065429
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   predominantly
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarybladder   moderately
     kidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal Rho binding domain, encompassing a RhoA-binding domain (RBD) followed by a four armadillo-repeats containing Diaphanous inhibitory domain (DID) that binds the C-terminal Diaphanous autoregulatory domain
  • central polyproline stretches
  • a GTPase binding domain (GBD)
  • three formin homology domains (FH1, 2 and 3)
  • a DRF autoregulatory domain (DAD)
  • phospholipid-binding sites are clusters of positively charged residues in the N-terminal basic domain (BD) and at the C-terminal region
  • a C terminal formin homology domain (FH), enhancing the nucleation activity of the FH2 domain, but do not display barbed end binding abilities
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to Drosophila diaphanous 1
    homolog to C.elegans y48g9a.1
    ortholog to rattus Diap1 predicted
    ortholog to murine Diap1
    Homologene
    FAMILY
  • formin family
  • diaphanous subfamily
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • DIAPH1 and WASF2 synergize with BAIAP2 to form filopodia
  • basic FUNCTION
  • acting as a RHO effector
  • initiate the assembly of filamentous actin downstream of Rho GTPases to regulate cellular processes such as cytokinesis, cell polarity, cell motility and adhesion
  • playing a role in regulation of actin polymerylation in hair cells of the inner ear
  • transcriptional activation of the serum response factor
  • stress fiber formation
  • acting as a regulatory subunit for Cdc7 kinase
  • regulating microtubule attachment to kinetochores
  • DIAPH1 and DAAM1 are platelet actin assembly factors having distinct efficiencies, and they are directly regulated by Rho GTPases
  • translocate to the platelet cytoskeleton following thrombin stimulation, in a phosphoinositide 3-kinase (PI 3-kinase)-dependent manner
  • DIAPH1, DIAPH2, DIAPH3 are implicated in mitosis and cytokinesis
  • RHOD effector producing straight actin filaments
  • mediating actin polymerization, which is essential for several aspects of dendritic cells-initiated acquired immune responses
  • DIAPH1, DIAPH2 are strong inducers of lamellipodia/membrane ruffles and neurite outgrowth
  • DIAPH1 and FMNL1 have been implicated in centrosome reorientation to the immunological synapse of T lymphocytes
  • DIAPH1 and FMNL1 are novel regulators of spirochete uptake by human immune cells
  • upon TCR triggering the INF2 formin, together with the formins DIAPH1 and FMNL1, promotes the formation of a specialized array of stable detyrosinated MT that breaks the symmetrical organization of the T-cell microtubule (MT) cytoskeleton
  • actin filament length regulators CFL1, CAPZB and DIAPH1 regulate mitotic cortex thickness and both increasing and decreasing thickness decreases tension in mitosis
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • cell shape
  • cell size control
  • cell organization
  • PATHWAY
    metabolism
    signaling sensory transduction/hearing
  • MEMO1-RHOA-DIAPH1 signaling coordinates the organization of the lamellipodial actin network, adhesion site formation, and microtubules outgrowth within the cell leading edge to sustain cell motility
  • a component
  • RHOD-DIAPH1 signaling facilitates malignant transformation and invasion by manipulating the actin cytoskeleton and targeting SRC to the cell periphery
  • PI 3-kinase/RHOA/DIAPH1 axis is a critical pathway for coupling thrombin signaling to actin cytoskeletal remodeling during platelet spreading
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • actin
  • GTP-bound form of Rho
  • RHOC
  • PFY1
  • MAPRE1
  • profilin ligand and target of Rho that regulates polymerization of actin
  • APC
  • interacting with NCDN (specifically binds NCDN through its formin homology 3 (FH3), but not to the FH1 or FH2 domain)
  • interaction with RHOD (mediates various phenotypes of malignant transformation by RAS and SRC through its effectors, ROCK1 and DIAPH1)
  • FLI1, a gelsolin family protein essential for early development, binds directly to DAAM1 and DIAPH1 (FLI1 enhances the intrinsic actin assembly activity of DAAM1 and DIAPH1 and is required for DAAM1-induced actin assembly in living cells)
  • interaction of phospholipids with the C-terminal region causing a drastic reduction of its actin filament assembly activity
  • DIAPH1 and WASF2 are important SH3 domain partners of BAIAP2 involved in filopodial protrusion
  • function of PLEKHG5 is mediated by the selective activation of the RHOA downstream effector DIAPH1 (PMID
  • cell & other
    REGULATION
    Other regulated by intramolecular GBD-DAD binding
    a cell cycle-regulated protein
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA1
    related resource Genetics hearing impairment
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    associated with increased overall survival (OAS) of ovarian cancer patients
    Susceptibility
    Variant & Polymorphism SNP
  • a single nucleotide substitution in a splice donor, leading to a four-base pair insertion in mRNA and a frame shift producing the trucation
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS