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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
Related
formin-1 (limb deformity protein homolog, FMN1, FMN, LD)
General
formin homology family protein
phosphoprotein
Properties
SIZE: entity length = 1272 aa
MW = 141 kD
COMPARTMENT: cytoplasm
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Ser phosphorylation site {S22}
GBD/FH3 {84-449}
coiled coil {468-572}
FH1 {583-764}
FH2 {769-1171}
coiled coil {1039-1196}
MOTIF: Tyr phosphorylation site {Y1121}
DAD {1194-1222}
MOTIF: lysine-rich region {1213-1216}
MOTIF: lysine residue (SEVERAL)
Database Correlations
OMIM correlations
UniProt O60610
PFAM correlations
Entrez Gene 1729
Kegg hsa:1729
References
- UniProt :accession O60610
- Hereditary hearing loss homepage; Note: gene page
http://webhost.ua.ac.be/hhh/