DIAPH1 Recombinant Rabbit Monoclonal Antibody [JE40-59] (ET7109-11)

UNIPROT #

O60610

PROTEIN NAME

DIAPH1

SYNONYMS

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

SEQUENCE SIMILARITIES

Belongs to the formin homology family. Diaphanous subfamily.

TISSUE SPECIFICITY

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

DEVELOPMENTAL STAGE

Strongly expressed in ventricular and subventricular zone progenitor cells of the neocortical wall at 12 weeks post-conception.

POST-TRANSLATIONAL MODIFICATION

Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.

SUBCELLULAR LOCATION

Cytoskeleton. Plasma membrane.

FUNCTION

Dia 1, also known as DIAPH1 (diaphanous homolog 1) or DRF1, a mammalian homolog of the Drosophila diaphanous gene, belongs to a family of formin homology (FH) proteins which are characterized by having tandemly aligned FH1 (formin homology 1) and FH2 (formin homology 2) domains in their carboxy terminal regions. Dia 1 contains a DAD (diaphanous autoregulatory) domain, which is involved in the elongation of actin filaments, and a GBD/FH3 (Rho GTPase-binding/formin homology 3) domain, which interacts with the DAD domain via autoinhibitory interactions to regulate the activation of Dia 1. Dia 1 is required for the assembly of F-actin structures, and regulates the polymerization and depolymerization of actin filaments. Localizing to the cell membrane, Dia 1 is expressed in a wide range of tissues, including brain, heart, lung and kidney. Defects to the gene encoding Dia 1 have been linked to deafness autosomal dominant type 1 (DFNA1), a disorder characterized by sensorineural hearing loss..