protein diaphanous homolog 1; diaphanous-related formin-1; DRF1 (DIAPH1, DIAP1)

Function

• recruits PFY1 to the membrane (Rho-dependent)
• required for assembly of F-actin structures, such as actin cables & stress fibers
• nucleates actin filaments
• binds to the barbed end of the actin filament & slows actin polymerization & depolymerization
• required for cytokinesis, & transcriptional activation of serum response factor
• DFR proteins couple Rho & Src tyrosine kinase during signaling & regulation of actin dynamics
• functions as a scaffold protein for MAPRE1 & APC to stabilize microtubules & promote cell migration (putative)
• as neurite outgrowth promoting activity (putative)
• may play a role in regulation of actin polymerization in hair cells
• interacts with the GTP-bound form of RHOA
• interacts with RHOC, PFY1, MAPRE1, BAIAP2 & APC
• interacts with SCAI (putative)
• interacts with WDR68
• interacts with NCDN
• DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction (putative)
• WDR68 binds to the FH2 (formin homology 2) domain

Structure

• homodimer
• belongs to the formin homology family, diaphanous subfamily
• contains 1 DAD (diaphanous autoregulatory) domain
• contains 1 FH1 (formin homology 1) domain
• contains 1 FH2 (formin homology 2) domain
• contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain

Compartment

• cell membrane, cell projection, ruffle membrane
• cytoplasm, cytoskeleton
• membrane ruffles, especially at the tip of ruffles, of motile cells

Alternative splicing

named isoforms=2

Expression

• expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle & cochlea

Pathology

• defects in DIAPH1 are the cause of deafness autosomal dominant type 1

More general terms

• formin homology family protein
• phosphoprotein

Additional terms

• formin-1 (limb deformity protein homolog, FMN1, FMN, LD)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1729
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1729
• OMIM: https://mirror.omim.org/entry/124900
• OMIM: https://mirror.omim.org/entry/602121
• UniProt: http://www.uniprot.org/uniprot/O60610.html