Diaph1 Gene Summary [Mouse]

This gene encodes a member of the formin family of proteins that play important roles in cytoskeletal rearragnement by nucleation of actin filaments. Mice lacking the encoded protein develop age-dependent myeloproliferative defects resembling human myeloproliferative syndrome and myelodysplastic syndromes. Trafficking of T lymphocytes to secondary lymphoid organs and egression of thymocytes from the thymus are impaired in these animals. Lack of the encoded protein in T lymphocytes and thymocytes also reduces chemotaxis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2016]

Details

Type
Protein Coding
Official Symbol
Diaph1
Official Name
diaphanous related formin 1 [Source:MGI Symbol;Acc:MGI:1194490]
Ensembl ID
ENSMUSG00000024456
Bio databases IDs NCBI: 13367 Ensembl: ENSMUSG00000024456
Aliases diaphanous related formin 1
Synonyms BC012974, D18Wsu154e, DFNA1, DIA1, DIAP1, Diap1 (predicted), diaphanous-related formin 1, DRF1, hDIA1, LFHL1, MDIA1, p140mDia, SCBMS
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Diaph1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Formin Homology 2 Domain
  • GTPase binding domain
  • Diaphanous FH3 Domain
  • RhoA binding domain
  • diaphanous autoregulatory domain
  • enzyme binding
  • protein binding
  • formin homology domain 3
  • identical protein binding
  • proline rich domain
  • Diaphanous GTPase-binding Domain
  • profilin binding
  • formin homology domain 1
  • Diaphanous inhibitory domain
  • actin binding
  • ion channel binding
  • dia-autoinhibitory domain
  • Rho-binding domain

Pathways

Biological processes and signaling networks where the Diaph1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • dermatological disorder
  • organismal death
  • allergy
  • lymphopenia
  • echinocytosis
  • systemic lupus erythematosus
  • pancreatic epithelial cancer
  • pancreatic adenocarcinoma
  • colon carcinoma
  • colon epithelial cancer
regulated by
  • 6-[3-(1-adamantyl)-4-hydroxyphenyl]-3-chloro-2-naphthalenecarboxylic acid
  • beta-estradiol
  • ANGPT1
  • AKT1
  • GNA12
  • LCN2
  • medroxyprogesterone acetate
  • FN1
  • 8-bromo-cAMP
  • ESR1
regulates
role in cell
  • phosphorylation in
  • formation
  • formation in
  • expression in
  • proliferation
  • damage in
  • stabilization in
  • quantity
  • cell cycle progression
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • microtubule cytoskeleton
  • Cytoplasm
  • cell periphery
  • perinuclear region
  • Nucleus
  • secretory granule membrane
  • cytosol
  • membrane ruffles
  • spindle fibers
  • growth cone
  • neurites
  • membrane blebs
  • brush border
  • cleavage furrow
  • filopodia
  • mitotic spindle
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Diaph1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sensory perception of sound
  • regulation of release of sequestered calcium ion into cytosol
  • regulation of cell shape
  • cytoskeleton organization
  • cellular response to histamine
  • regulation of cytoskeleton organization
  • protein localization to microtubule
  • actin filament polymerization
  • actin cytoskeleton organization
  • regulation of microtubule-based process

Cellular Component

Where in the cell the gene product is active
  • secretory granule membrane
  • nucleus
  • centrosome
  • mitotic spindle
  • cytoplasm
  • cytosol
  • ruffle membrane
  • actin filament
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • actin binding
  • small GTPase binding
  • ion channel binding
  • receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.