Rfx6 regulatory factor X, 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rfx6provided by MGI
Official Full Name: regulatory factor X, 6provided by MGI
Primary source: MGI:MGI:2445208
See related: Ensembl:ENSMUSG00000019900 AllianceGenome:MGI:2445208
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rfxdc1; 4930572O07Rik
Summary: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in enteroendocrine cell differentiation; glucose homeostasis; and regulation of insulin secretion. Located in nucleus. Is expressed in several structures, including gut; limb; liver; male reproductive gland or organ; and sensory organ. Orthologous to human RFX6 (regulatory factor X6). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 10 B3; 10 25.74 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (51553856..51606525)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (51677760..51730429)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rfx6 operates upstream of Arx, Pax6 and Isl1 to trigger the differentiation of peptidergic enteroendocrine cells such as GIP-, GLP-1-, or CCK-secreting cells. On the contrary, Rfx6 represses Lmx1a and Tph1, two genes essential for serotonin biosynthesis.
Title: Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production.
Rfx6 can directly bind to upstream of MiR-145, MiR-195, and possibly other non-protein-coding functional RNAs to control adult mouse pancreatic differentiation. Interestingly, our study revealed that Rfx6 played an important role in insulin translation by binding to the Eif2ak1, Upf1, and Eif5.
Title: Identification of Rfx6 target genes involved in pancreas development and insulin translation by ChIP-seq.
Rfx6 loss in adult beta cells leads to glucose intolerance, impaired beta cell glucose sensing, and defective insulin secretion.
Title: Rfx6 maintains the functional identity of adult pancreatic β cells.
Rfx6 increases GIP expression and content in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity.
Title: Transcriptional regulatory factor X6 (Rfx6) increases gastric inhibitory polypeptide (GIP) expression in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity.
studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans
Title: Rfx6 directs islet formation and insulin production in mice and humans.
Rfx6 is found in postmitotic islet progenitor cells in the embryo and is maintained in all developing and adult islet cell types. It is dependent on Ngn3 and during islet cell differentiation.
Title: Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rfx6 (e-PCR), detects polymorphism
- UniSTS:528053

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in endocrine pancreas development	ISO Inferred from Sequence Orthology more info
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in pancreatic A cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreatic D cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreatic epsilon cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in type B pancreatic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA-binding protein RFX6

Names: regulatory factor X domain containing 1; regulatory factor X domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001159389.1 → NP_001152861.1 DNA-binding protein RFX6 isoform 1

See identical proteins and their annotated locations for NP_001152861.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC153527

Consensus CDS

CCDS48558.1

UniProtKB/Swiss-Prot

Q8C7R7, Q8CDN5

UniProtKB/TrEMBL

D5FLC2

Related

ENSMUSP00000116057.2, ENSMUST00000122922.10

Conserved Domains (1) summary

pfam02257
Location:123 → 196

RFX_DNA_binding; RFX DNA-binding domain
NM_177306.3 → NP_796280.1 DNA-binding protein RFX6 isoform 2

See identical proteins and their annotated locations for NP_796280.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK029809

Consensus CDS

CCDS23835.1

UniProtKB/Swiss-Prot

Q8C7R7

Related

ENSMUSP00000057384.5, ENSMUST00000050455.5