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Protein

DNA-binding protein RFX6

Gene

Rfx6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi123 – 19876RFX-type winged-helixPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: GO_Central
  2. RNA polymerase II regulatory region sequence-specific DNA binding Source: MGI
  3. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
  4. sequence-specific DNA binding transcription factor activity Source: GO_Central
  5. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. endocrine pancreas development Source: MGI
  2. glucose homeostasis Source: UniProtKB
  3. pancreatic A cell differentiation Source: UniProtKB
  4. pancreatic D cell differentiation Source: UniProtKB
  5. pancreatic epsilon cell differentiation Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  8. regulation of insulin secretion Source: UniProtKB
  9. regulation of transcription from RNA polymerase II promoter Source: GO_Central
  10. type B pancreatic cell differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFX6
Alternative name(s):
Regulatory factor X 6
Regulatory factor X domain-containing protein 1
Gene namesi
Name:Rfx6
Synonyms:Rfxdc1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:2445208. Rfx6.

Subcellular locationi

Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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 mellitus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 927927DNA-binding protein RFX6PRO_0000313722Add
BLAST

Proteomic databases

PaxDbiQ8C7R7.
PRIDEiQ8C7R7.

PTM databases

PhosphoSiteiQ8C7R7.

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

BgeeiQ8C7R7.
GenevestigatoriQ8C7R7.

Interactioni

Subunit structurei

Interacts with RFX3.1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000020054.

Structurei

3D structure databases

ProteinModelPortaliQ8C7R7.
SMRiQ8C7R7. Positions 123-197.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.PROSITE-ProRule annotation
Contains 1 RFX-type winged-helix DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG243313.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000154105.
HOVERGENiHBG108402.
InParanoidiQ8C7R7.
OMAiIHDPLNI.
OrthoDBiEOG79CXXT.
PhylomeDBiQ8C7R7.
TreeFamiTF321340.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8C7R7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:927
Mass (Da):102,566
Last modified:January 15, 2008 - v2
Checksum:i787F0837902D3E21
GO
Isoform 2 (identifier: Q8C7R7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     519-524: SFHLIR → IQCVLQ
     525-927: Missing.

Note: No experimental confirmation available.

Show »
Length:524
Mass (Da):59,136
Checksum:i7A30A23C7A863604
GO
Isoform 3 (identifier: Q8C7R7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-264: Missing.

Note: No experimental confirmation available.

Show »
Length:663
Mass (Da):73,265
Checksum:iC8C29794548143B6
GO

Sequence cautioni

The sequence AAI32105.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAI32295.1 differs from that shown. Reason: Erroneous initiation. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 264264Missing in isoform 3. 1 PublicationVSP_030121Add
BLAST
Alternative sequencei519 – 5246SFHLIR → IQCVLQ in isoform 2. 1 PublicationVSP_030122
Alternative sequencei525 – 927403Missing in isoform 2. 1 PublicationVSP_030123Add
BLAST

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.
CCDSiCCDS23835.1. [Q8C7R7-3]
CCDS48558.1. [Q8C7R7-1]
RefSeqiNP_001152861.1. NM_001159389.1. [Q8C7R7-1]
NP_796280.1. NM_177306.3. [Q8C7R7-3]
UniGeneiMm.109190.

Genome annotation databases

EnsembliENSMUST00000050455; ENSMUSP00000057384; ENSMUSG00000019900. [Q8C7R7-3]
ENSMUST00000122922; ENSMUSP00000116057; ENSMUSG00000019900. [Q8C7R7-1]
GeneIDi320995.
KEGGimmu:320995.
UCSCiuc007fax.2. mouse. [Q8C7R7-2]
uc007fay.1. mouse. [Q8C7R7-1]
uc011xdt.1. mouse. [Q8C7R7-3]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS23835.1. [Q8C7R7-3]
CCDS48558.1. [Q8C7R7-1]
RefSeqiNP_001152861.1. NM_001159389.1. [Q8C7R7-1]
NP_796280.1. NM_177306.3. [Q8C7R7-3]
UniGeneiMm.109190.

3D structure databases

ProteinModelPortaliQ8C7R7.
SMRiQ8C7R7. Positions 123-197.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000020054.

PTM databases

PhosphoSiteiQ8C7R7.

Proteomic databases

PaxDbiQ8C7R7.
PRIDEiQ8C7R7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000050455; ENSMUSP00000057384; ENSMUSG00000019900. [Q8C7R7-3]
ENSMUST00000122922; ENSMUSP00000116057; ENSMUSG00000019900. [Q8C7R7-1]
GeneIDi320995.
KEGGimmu:320995.
UCSCiuc007fax.2. mouse. [Q8C7R7-2]
uc007fay.1. mouse. [Q8C7R7-1]
uc011xdt.1. mouse. [Q8C7R7-3]

Organism-specific databases

CTDi222546.
MGIiMGI:2445208. Rfx6.

Phylogenomic databases

eggNOGiNOG243313.
GeneTreeiENSGT00550000074532.
HOGENOMiHOG000154105.
HOVERGENiHBG108402.
InParanoidiQ8C7R7.
OMAiIHDPLNI.
OrthoDBiEOG79CXXT.
PhylomeDBiQ8C7R7.
TreeFamiTF321340.

Miscellaneous databases

NextBioi397819.
PROiQ8C7R7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8C7R7.
GenevestigatoriQ8C7R7.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEiPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Strain: C57BL/6J.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 213-927 (ISOFORM 1).
    Tissue: Brain.
  4. "Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development."
    Soyer J., Flasse L., Raffelsberger W., Beucher A., Orvain C., Peers B., Ravassard P., Vermot J., Voz M.L., Mellitzer G., Gradwohl G.
    Development 137:203-212(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
  5. Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, INTERACTION WITH RFX3.

Entry informationi

Entry nameiRFX6_MOUSE
AccessioniPrimary (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: March 4, 2015
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.