diaphanous related formin 1
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Diagnostic Grade (Green)
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomal+4 more panels — install the extension to see the full list inline on any page.
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
autosomal dominant nonsyndromic hearing loss 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
deafness
Global developmental delay
Intellectual disability
hearing loss disorder
Moyamoya disease
neurodegenerative disease
nonsyndromic genetic hearing loss
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein diaphanous homolog 1
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity)
DIAPH1 · O60610
Mean pLDDT
72.8/ 100
Confident
1,272 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
