Rabbit anti-Human DIAPH1 Polyclonal Antibody

Uniprot Id

O60610

Target Species

Human

Target Name

DIAPH1

Target Full Name

Protein diaphanous homolog 1

Target Function

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration. Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane. In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Plays a role in brain development. 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.

Target Involvement

Deafness, autosomal dominant, 1 (DFNA1); Seizures, cortical blindness, and microcephaly syndrome (SCBMS)

Target Subcellular Location

Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus.

Target Protein Families

Formin homology family, Diaphanous subfamily

Target Tissue Specificity

Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets.

Target Synonyms

DIAPH1; deafness; autosomal dominant 1; DFNA1; DIA1; DIAP1; DIAP1_HUMAN; DIAPH1; Diaphanous homolog 1 (Drosophila); diaphanous homolog 1; Diaphanous related formin 1; Diaphanous-related formin-1; DRF1; FLJ25265; hDIA1; LFHL1; low frequency hearing loss 1; p140DIA; Protein diaphanous homolog 1

Target Background

This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.