UniProtKB - Q8C7R7 (RFX6_MOUSE)
Protein
DNA-binding protein RFX6
Gene
Rfx6
Organism
Mus musculus (Mouse)
Status
Functioni
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 (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (By similarity).By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 123 – 198 | RFX-type winged-helixPROSITE-ProRule annotationAdd BLAST | 76 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: MGI
- DNA-binding transcription factor activity Source: GO_Central
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: MGI
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- endocrine pancreas development Source: MGI
- glucose homeostasis Source: UniProtKB
- pancreatic A cell differentiation Source: UniProtKB
- pancreatic D cell differentiation Source: UniProtKB
- pancreatic epsilon cell differentiation Source: UniProtKB
- positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of insulin secretion Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- type B pancreatic cell differentiation Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-binding protein RFX6Alternative name(s): Regulatory factor X 6 Regulatory factor X domain-containing protein 1 |
Gene namesi | Name:Rfx6 Synonyms:Rfxdc1 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:2445208, Rfx6 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Disruption phenotypei
Mice were born at the expected Mendelian ratio, but fail to feed normally, exhibit gross bowel distension due to small bowel obstruction and die within 2 days post partum. Some, but not all, of the animals also have reduced pancreas size. pancreata had almost no expression of the islet hormones genes, except for PP (polypeptide-producing).1 Publication
Keywords - Diseasei
Diabetes mellitusPTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000313722 | 1 – 927 | DNA-binding protein RFX6Add BLAST | 927 |
Proteomic databases
PaxDbi | Q8C7R7 |
PRIDEi | Q8C7R7 |
PTM databases
iPTMneti | Q8C7R7 |
PhosphoSitePlusi | Q8C7R7 |
Expressioni
Tissue specificityi
In the adult pancreas, expression is restricted to the islets where it could be detected in all endocrine lineages.2 Publications
Developmental stagei
Expressed initially broadly in the definitive endoderm after gastrulation, becomes restricted to the gut and pancreatic bud at mid gestation, and is reactivated by Neurog3 in islet progenitor cells and is ultimately restricted to pancreatic islets in the mature pancreas (at protein level).2 Publications
Inductioni
By Neurog3.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000019900, Expressed in endoderm and 31 other tissues |
Interactioni
Subunit structurei
Interacts with RFX3 (PubMed:20148032).
1 PublicationProtein-protein interaction databases
STRINGi | 10090.ENSMUSP00000116057 |
Miscellaneous databases
RNActi | Q8C7R7, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the RFX family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198574 |
HOGENOMi | CLU_013981_0_0_1 |
InParanoidi | Q8C7R7 |
OMAi | GSAPCMF |
OrthoDBi | 346630at2759 |
PhylomeDBi | Q8C7R7 |
TreeFami | TF321340 |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8C7R7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAKVRELEEA FVQEQPSPQL PSEIAEECCA QLLGKGLLVY PEDSAYLLAE
60 70 80 90 100
TAAGARSSGE KGGDPGLQVG VKSEMQLNNG NFSSEEEDAD TQESKTKAAD
110 120 130 140 150
PQLSQKKSIT QMMKDKKKQT QLTLQWLEDN YIVCEGVCLP RCILYAHYLD
160 170 180 190 200
FCRKEKLEPA CAATFGKTIR QKFPLLTTRR LGTRGHSKYH YYGIGIKESS
210 220 230 240 250
AYYHSVYSGK GLTRFSGSKL KNEGGFTRKY SLSSKTGTLL PEFPSAQHLV
260 270 280 290 300
YQGCISKDKV DTLIMMYKTH CQCILDNAIN GNFEEIQHFL LHFWQGMPDH
310 320 330 340 350
LLPLLENPVI IDIFCVCDSI LYKVLTDVLI PATMQEMPES LLADIRNFAK
360 370 380 390 400
NWEQWVVSSL ENLPEALIDK KIPILRRFVS SLKRQTSFLH LAQIARPALF
410 420 430 440 450
DQHVVNAMVS DIEKVDLNSI GSQALLTISN STDTESDIYS EHDSITVFQE
460 470 480 490 500
LKDLLKKNAT VEAFIEWLDT VVEQRVIKMS KQNGRSLKKR AQDFLLKWSF
510 520 530 540 550
FGARVMHNLT LNNASSFGSF HLIRMLLDEY ILLAMETQFN NDKEQELQNL
560 570 580 590 600
LDKYMKNSDA SKAAFTASPS SCFLANRNKA SSLASDTVKN ESHVETSYVP
610 620 630 640 650
LPSSQPGAIP PALHPFSTED TDNMPLPGQI ELSQSTGHLM TPPISPAIAS
660 670 680 690 700
RGSVINQGPM ASRPPSVGTV LSAPTHCSTY AEPIYPTLSP ANHDFYGTNS
710 720 730 740 750
NYQTMFRTQS HPASSLYAHR AEHGRCMAWT EQQLSRDFFG GSCAGSPYNC
760 770 780 790 800
RPPSSYGPST HTQESHSMQV LNTGSFNFLS NAGAGSCQGS TLPSNSPNGY
810 820 830 840 850
YGNNINYSEA HRLGSMVNQH VSVISSVRSL PPYSDIHDPL NILDDSSRKQ
860 870 880 890 900
NNSFYADTLS PVACRTTVVA SNLQTQIPSS SSQCMYGTSN QYPVQDSLDS
910 920
NAASNREMVS SLPPINTVFM GTAAGDT
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD5FLC2 | D5FLC2_MOUSE | DNA-binding protein RFX6 | Rfx6 | 893 | Annotation score: | ||
A0A1W2P7F2 | A0A1W2P7F2_MOUSE | DNA-binding protein RFX6 | Rfx6 | 270 | Annotation score: |
Sequence cautioni
The sequence AAI32105 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI32295 differs from that shown. Reason: Erroneous initiation.Curated
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030121 | 1 – 264 | Missing in isoform 3. 1 PublicationAdd BLAST | 264 | |
Alternative sequenceiVSP_030122 | 519 – 524 | SFHLIR → IQCVLQ in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_030123 | 525 – 927 | Missing in isoform 2. 1 PublicationAdd BLAST | 403 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK029809 mRNA Translation: BAC26627.1 AK049380 mRNA Translation: BAC33722.1 AC153527 Genomic DNA No translation available. BC132104 mRNA Translation: AAI32105.1 Different initiation. BC132294 mRNA Translation: AAI32295.1 Different initiation. |
CCDSi | CCDS23835.1 [Q8C7R7-3] CCDS48558.1 [Q8C7R7-1] |
RefSeqi | NP_001152861.1, NM_001159389.1 [Q8C7R7-1] NP_796280.1, NM_177306.3 [Q8C7R7-3] |
Genome annotation databases
Ensembli | ENSMUST00000050455; ENSMUSP00000057384; ENSMUSG00000019900 [Q8C7R7-3] ENSMUST00000122922; ENSMUSP00000116057; ENSMUSG00000019900 [Q8C7R7-1] |
GeneIDi | 320995 |
KEGGi | mmu:320995 |
UCSCi | uc007fax.2, mouse [Q8C7R7-2] uc007fay.1, mouse [Q8C7R7-1] uc011xdt.1, mouse [Q8C7R7-3] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK029809 mRNA Translation: BAC26627.1 AK049380 mRNA Translation: BAC33722.1 AC153527 Genomic DNA No translation available. BC132104 mRNA Translation: AAI32105.1 Different initiation. BC132294 mRNA Translation: AAI32295.1 Different initiation. |
CCDSi | CCDS23835.1 [Q8C7R7-3] CCDS48558.1 [Q8C7R7-1] |
RefSeqi | NP_001152861.1, NM_001159389.1 [Q8C7R7-1] NP_796280.1, NM_177306.3 [Q8C7R7-3] |
3D structure databases
SMRi | Q8C7R7 |
ModBasei | Search... |
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000116057 |
PTM databases
iPTMneti | Q8C7R7 |
PhosphoSitePlusi | Q8C7R7 |
Proteomic databases
PaxDbi | Q8C7R7 |
PRIDEi | Q8C7R7 |
Protocols and materials databases
Antibodypediai | 32535, 67 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000050455; ENSMUSP00000057384; ENSMUSG00000019900 [Q8C7R7-3] ENSMUST00000122922; ENSMUSP00000116057; ENSMUSG00000019900 [Q8C7R7-1] |
GeneIDi | 320995 |
KEGGi | mmu:320995 |
UCSCi | uc007fax.2, mouse [Q8C7R7-2] uc007fay.1, mouse [Q8C7R7-1] uc011xdt.1, mouse [Q8C7R7-3] |
Organism-specific databases
CTDi | 222546 |
MGIi | MGI:2445208, Rfx6 |
Phylogenomic databases
eggNOGi | KOG3712, Eukaryota |
GeneTreei | ENSGT00980000198574 |
HOGENOMi | CLU_013981_0_0_1 |
InParanoidi | Q8C7R7 |
OMAi | GSAPCMF |
OrthoDBi | 346630at2759 |
PhylomeDBi | Q8C7R7 |
TreeFami | TF321340 |
Miscellaneous databases
BioGRID-ORCSi | 320995, 1 hit in 18 CRISPR screens |
PROi | PR:Q8C7R7 |
RNActi | Q8C7R7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000019900, Expressed in endoderm and 31 other tissues |
Family and domain databases
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR003150, DNA-bd_RFX IPR039779, RFX-like IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12619, PTHR12619, 1 hit |
Pfami | View protein in Pfam PF02257, RFX_DNA_binding, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51526, RFX_DBD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RFX6_MOUSE | |
Accessioni | Q8C7R7Primary (citable) accession number: Q8C7R7 Secondary accession number(s): Q8CDN5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 15, 2008 | |
Last modified: | December 2, 2020 | |
This is version 137 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families