RFX6 Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes. Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription. Belongs to the RFX family. Expressed in pancreas (PubMed:25497100). Expressed in pancreatic beta-cells (insulin-positive cells) and alpha-cells (glucagon-positive cells) (at protein level). Specifically expressed in pancreas, small intestine and colon (PubMed:20148032). Expressed in endocrine cells in the islets (PubMed:25497100). Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 6q22.1
Cellular Component:  nucleolus; nucleus
Molecular Function:  DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding; RNA polymerase II regulatory region sequence-specific DNA binding; transcription regulatory region DNA binding
Biological Process:  endocrine pancreas development; glucose homeostasis; pancreatic A cell differentiation; pancreatic D cell differentiation; pancreatic epsilon cell differentiation; positive regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; regulation of insulin secretion; type B pancreatic cell differentiation
Disease: Mitchell-riley Syndrome
Reference #:  Q8HWS3 (UniProtKB)
Alt. Names/Synonyms: dJ955L16.1; DNA-binding protein RFX6; MGC33442; Regulatory factor X 6; regulatory factor X domain containing 1; Regulatory factor X domain-containing protein 1; regulatory factor X, 6; RFX6; RFXDC1
Gene Symbols: RFX6
Molecular weight: 102,461 Da
Basal Isoelectric point: 6.11  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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