transcription factor RFX3; regulatory factor X 3 (RFX3)

Function: - transcription factor required for ciliogenesis & islet cell differentiation during endocrine pancreas development - essential for the differentiation of nodal monocilia & left-right asymmetry specification during embryogenesis - required for biogenesis of motile cilia by governing growth & beating efficiency of motile cells - also required for ciliated ependymal cell differentiation - regulates the expression of genes involved in a) ciliary assembly (DYNC2LI1, FOXJ1 & BBS4) b) ciliary motility (DNAH11, DNAH9 & DNAH5) (putative) - together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP cells (polypeptide-producing) - regulates transcription by forming a heterodimer with another RFX protein & binding to the X-box in the promoter of target genes - acts as a transcription factor - represses transcription of MAP1A in non-neuronal cells but not in neuronal cells Structure: - belongs to the RFX family - contains 1 H-T-H motif winged-type DNA-binding domain Compartment: nucleus (probable) Alternative splicing: named isoforms=3

General

DNA-binding protein transcription factor (TF)

Properties

SIZE: entity length = 749 aa MW = 84 kD COMPARTMENT: cell nucleus MOTIF: DNA-binding motif SITE: 186-257

Database Correlations

OMIM 601337 UniProt P48380 PFAM correlations Entrez Gene 5991 Kegg hsa:5991

References

UniProt :accession P48380