Q9NSV4.4
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Protein diaphanous homolog 3
NCBI Official Synonym Full Names
diaphanous-related formin 3
NCBI Official Synonym Symbols
AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2 [Similar Products]
NCBI Protein Information
protein diaphanous homolog 3; diaphanous-related formin-3
UniProt Protein Name
Protein diaphanous homolog 3
UniProt Synonym Protein Names
Diaphanous-related formin-3; DRF3; MDia2
UniProt Synonym Gene Names
UniProt Entry Name
DIAP3_HUMAN
NCBI Summary for DIAPH3
This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
UniProt Comments for DIAPH3
Diaphanous-3: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Defects in DIAPH3 are the cause of auditory neuropathy, autosomal dominant, type 1 (AUNA1). A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. A disease- causing mutation in the conserved 5'-UTR leads to increased protein expression (PubMed:20624953). Belongs to the formin homology family. Diaphanous subfamily. 7 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 13q21.2
Cellular Component: cytosol; nucleus
Molecular Function: Rho GTPase binding; actin binding
Biological Process: spermatogenesis; actin cytoskeleton organization and biogenesis
Disease: Auditory Neuropathy, Autosomal Dominant, 1
Research Articles on DIAPH3
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Pathways associated with anti-DIAPH3 antibody
Diseases associated with anti-DIAPH3 antibody
Organs/Tissues associated with anti-DIAPH3 antibody
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