Target intelligence / Profile preview

Transcription factor RFX3 (RFX3)

Target
RFX3
Molecular classification
Transcription factor
01

Overview

Transcription factor RFX3 is a member of the regulatory factor X (RFX) gene family, encoding a transcription factor with a highly conserved winged-helix DNA-binding domain[2][3][5]. RFX3 functions as a transcriptional activator essential for the formation and function of motile and primary cilia, contributing to ciliogenesis and the regulation of cilia-associated gene expression[1][5]. It can bind DNA as a monomer, a homodimer, or as a heterodimer with other RFX proteins. RFX3 is crucial for embryonic development, including the differentiation of nodal monocilia and specification of left-right asymmetry, and for the development and function of islet cells in the endocrine pancreas[1][3][5]. It regulates genes such as DYNC2LI1, FOXJ1, BBS4, DNAH11, DNAH9, and DNAH5[3][5]. Defects in RFX3 function are associated with ciliopathies and some disorders of pancreatic development and glucose metabolism[1][3]. RFX3 activity is modulated by post-translational modifications such as self-catalyzed fatty acylation, which is essential for its dimerization and transcriptional activity affecting ciliary gene expression and cilia elongation[1]. No direct pharmacologic modulators or drugs are currently known to interact with RFX3 as a therapeutic target.

Other names
Regulatory factor X3RFX3DNA binding protein RFX3Regulatory factor X, 3 (influences HLA class II expression)Transcription factor RFX3
02

Biological functions

Ciliogenesis and cilia functionRegulation of pancreatic islet cell differentiation and β-cell functionRegulation of genes involved in ciliary assembly and motilityRegulation of left-right embryonic asymmetryHeterodimerization with RFX family members for DNA binding
03

Disease associations

Ciliopathies (primary ciliary dyskinesia and related disorders)Developmental malformations-deafness-dystonia syndromeDiabetes (related to β-cell function and pancreatic development)

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