DIAPH1

DIAPH1

Target · Formin actin regulator

DIAPH1 Diaphanous related formin 1 · Protein diaphanous homolog 1

DIAPH1 (diaphanous related formin 1) is an actin nucleation and elongation factor of the formin family that drives assembly of F-actin structures such as actin cables and stress fibres. It is also known as hDIA1, mDia1, LFHL1 and DFNA1. Browse Assay Genie's current range of DIAPH1 research reagents below, or read on for the biology behind the target.

Cytoskeletal and membrane-associatedActin nucleation and elongationLinked to hearing loss
1272 aa
Protein length
~141 kDa
Molecular weight
5q31.3
Gene locus
Formin
Protein family
Target information

What is DIAPH1 (diaphanous related formin 1)?

DIAPH1 is an actin nucleation and elongation factor required for the assembly of F-actin structures, including actin cables and stress fibres. It binds the barbed end of the actin filament and slows both actin polymerisation and depolymerisation. It is required for cytokinesis and for transcriptional activation of the serum response factor. Diaphanous-related formin proteins couple Rho and Src tyrosine kinase during signalling and the regulation of actin dynamics, and DIAPH1 acts in a Rho-dependent manner to recruit PFY1 to the membrane.

Beyond actin, DIAPH1 acts as a scaffold for MAPRE1 and APC to stabilise microtubules and promote cell migration. In the MEMO1-RHOA-DIAPH1 pathway, which contributes to ERBB2-dependent microtubule stabilisation at the cell cortex, it controls the localisation of APC and CLASP2 to the cell membrane through regulation of GSK3B activity. Membrane-bound APC then allows MACF1 to localise to the membrane, which is needed for microtubule capture and stabilisation. DIAPH1 also regulates cell morphology, cytoskeletal organisation and cell shape, promotes neurite outgrowth and plays a role in brain development. In the nucleus it promotes actin polymerisation to drive serum-dependent SRF-MRTFA activity. UniProt records localisation to the cell membrane, ruffle membrane, cytoskeleton, centrosome, spindle, cytoplasm and nucleus.

The DIAPH1 gene is a homologue of the Drosophila diaphanous gene, formerly named diaphanous homolog 1 (Drosophila), and belongs to the formin and armadillo-like helical domain groups. It has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss, hence the DFNA1 and LFHL1 aliases. It has been speculated to regulate actin polymerisation in inner-ear hair cells. Alternatively spliced transcript variants encoding distinct isoforms have been reported. Mouse and rat orthologs are both named Diaph1.

Actin cytoskeleton dynamics

DIAPH1 nucleates and elongates actin filaments, making it a core factor for studying actin cable and stress fibre assembly.

Cell migration and microtubules

DIAPH1 scaffolds MAPRE1 and APC to stabilise microtubules and promote cell migration, linking actin and microtubule networks.

Rho and Src signalling

Diaphanous-related formins couple Rho and Src tyrosine kinase signalling to actin dynamics, including the MEMO1-RHOA-DIAPH1 pathway.

Hearing loss and neurodevelopment

DIAPH1 is linked to nonsyndromic progressive low-frequency hearing loss and has roles in brain development and neurite outgrowth.

Background

DIAPH1 frequently asked questions

What does DIAPH1 do?

DIAPH1 is an actin nucleation and elongation factor that assembles F-actin structures such as actin cables and stress fibres. It binds the barbed end of actin filaments, is required for cytokinesis, and also stabilises microtubules and regulates cell shape. In the nucleus it promotes actin polymerisation to drive SRF-MRTFA activity.

What other names does DIAPH1 go by?

DIAPH1 (diaphanous related formin 1) is also called protein diaphanous homolog 1, hDIA1, mDia1, LFHL1 and DFNA1. Earlier names were diaphanous (Drosophila, homolog) 1 and diaphanous homolog 1 (Drosophila). NCBI Gene reports alternatively spliced transcript variants encoding distinct isoforms.

Is DIAPH1 linked to disease and conserved across species?

The DIAPH1 gene has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. It is a homologue of Drosophila diaphanous, and mouse and rat both carry a Diaph1 ortholog. Check the datasheet of any product for its validated reactivity.

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Related targets

Other formins, Rho pathway components, microtubule-associated proteins and actin regulators connected to DIAPH1 signalling.

Gene and protein annotations from HGNC, NCBI Gene and UniProt O60610; product specifications from Assay Genie datasheets.

DIAPH1 Product listing