InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RFX6

Summary

InnateDB Protein

IDBP-95767.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RFX6

Protein Name

regulatory factor X, 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000332208

InnateDB Gene

IDBG-95761 (RFX6)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:20148032}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00858}.

Disease Associations

Mitchell-Riley syndrome (MTCHRS) [MIM:615710]: A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features. {ECO:0000269PubMed:20148032}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Specifically expressed in pancreas, small intestine and colon. {ECO:0000269PubMed:20148032}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0003309	type B pancreatic cell differentiation
GO:0003310	pancreatic A cell differentiation
GO:0003311	pancreatic D cell differentiation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0031018	endocrine pancreas development
GO:0042593	glucose homeostasis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0050796	regulation of insulin secretion
GO:0090104	pancreatic E cell differentiation