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Q8C7R7 (RFX6_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA-binding protein RFX6
Alternative name(s):
Regulatory factor X 6
Regulatory factor X domain-containing protein 1
Gene names
Name:Rfx6
Synonyms:Rfxdc1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length927 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.5

Subunit structure

Interacts with RFX3. Ref.5

Subcellular location

Nucleus Ref.5.

Tissue specificity

In the adult pancreas, expression is restricted to the islets where it could be detected in all endocrine lineages. Ref.4 Ref.5

Developmental stage

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). Ref.4 Ref.5

Induction

By Neurog3. Ref.4

Disruption phenotype

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). Ref.5

Sequence similarities

Belongs to the RFX family.

Contains 1 RFX-type winged-helix DNA-binding domain.

Sequence caution

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

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8C7R7-1)

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.
Isoform 2 (identifier: Q8C7R7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     519-524: SFHLIR → IQCVLQ
     525-927: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8C7R7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-264: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 927927DNA-binding protein RFX6
PRO_0000313722

Regions

DNA binding123 – 19876RFX-type winged-helix

Natural variations

Alternative sequence1 – 264264Missing in isoform 3.
VSP_030121
Alternative sequence519 – 5246SFHLIR → IQCVLQ in isoform 2.
VSP_030122
Alternative sequence525 – 927403Missing in isoform 2.
VSP_030123

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 787F0837902D3E21

FASTA927102,566
        10         20         30         40         50         60 
MAKVRELEEA FVQEQPSPQL PSEIAEECCA QLLGKGLLVY PEDSAYLLAE TAAGARSSGE 

        70         80         90        100        110        120 
KGGDPGLQVG VKSEMQLNNG NFSSEEEDAD TQESKTKAAD PQLSQKKSIT QMMKDKKKQT 

       130        140        150        160        170        180 
QLTLQWLEDN YIVCEGVCLP RCILYAHYLD FCRKEKLEPA CAATFGKTIR QKFPLLTTRR 

       190        200        210        220        230        240 
LGTRGHSKYH YYGIGIKESS AYYHSVYSGK GLTRFSGSKL KNEGGFTRKY SLSSKTGTLL 

       250        260        270        280        290        300 
PEFPSAQHLV YQGCISKDKV DTLIMMYKTH CQCILDNAIN GNFEEIQHFL LHFWQGMPDH 

       310        320        330        340        350        360 
LLPLLENPVI IDIFCVCDSI LYKVLTDVLI PATMQEMPES LLADIRNFAK NWEQWVVSSL 

       370        380        390        400        410        420 
ENLPEALIDK KIPILRRFVS SLKRQTSFLH LAQIARPALF DQHVVNAMVS DIEKVDLNSI 

       430        440        450        460        470        480 
GSQALLTISN STDTESDIYS EHDSITVFQE LKDLLKKNAT VEAFIEWLDT VVEQRVIKMS 

       490        500        510        520        530        540 
KQNGRSLKKR AQDFLLKWSF FGARVMHNLT LNNASSFGSF HLIRMLLDEY ILLAMETQFN 

       550        560        570        580        590        600 
NDKEQELQNL LDKYMKNSDA SKAAFTASPS SCFLANRNKA SSLASDTVKN ESHVETSYVP 

       610        620        630        640        650        660 
LPSSQPGAIP PALHPFSTED TDNMPLPGQI ELSQSTGHLM TPPISPAIAS RGSVINQGPM 

       670        680        690        700        710        720 
ASRPPSVGTV LSAPTHCSTY AEPIYPTLSP ANHDFYGTNS NYQTMFRTQS HPASSLYAHR 

       730        740        750        760        770        780 
AEHGRCMAWT EQQLSRDFFG GSCAGSPYNC RPPSSYGPST HTQESHSMQV LNTGSFNFLS 

       790        800        810        820        830        840 
NAGAGSCQGS TLPSNSPNGY YGNNINYSEA HRLGSMVNQH VSVISSVRSL PPYSDIHDPL 

       850        860        870        880        890        900 
NILDDSSRKQ NNSFYADTLS PVACRTTVVA SNLQTQIPSS SSQCMYGTSN QYPVQDSLDS 

       910        920 
NAASNREMVS SLPPINTVFM GTAAGDT 

« Hide

Isoform 2 [UniParc].

Checksum: 7A30A23C7A863604
Show »

FASTA52459,136
Isoform 3 [UniParc].

Checksum: C8C29794548143B6
Show »

FASTA66373,265

References

« Hide 'large scale' references
[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. expand/collapse author list , 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(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Strain: C57BL/6J.
Tissue: Testis.
[2]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
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(2004) [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(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
[5]"Rfx6 directs islet formation and insulin production in mice and humans."
Smith S.B., Qu H.Q., Taleb N., Kishimoto N.Y., Scheel D.W., Lu Y., Patch A.M., Grabs R., Wang J., Lynn F.C., Miyatsuka T., Mitchell J., Seerke R., Desir J., Eijnden S.V., Abramowicz M., Kacet N., Weill J. expand/collapse author list , Renard M.E., Gentile M., Hansen I., Dewar K., Hattersley A.T., Wang R., Wilson M.E., Johnson J.D., Polychronakos C., German M.S.
Nature 463:775-780(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, INTERACTION WITH RFX3.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS23835.1. [Q8C7R7-3]
CCDS48558.1. [Q8C7R7-1]
RefSeqNP_001152861.1. NM_001159389.1. [Q8C7R7-1]
NP_796280.1. NM_177306.3. [Q8C7R7-3]
UniGeneMm.109190.

3D structure databases

ProteinModelPortalQ8C7R7.
SMRQ8C7R7. Positions 123-197.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000020054.

PTM databases

PhosphoSiteQ8C7R7.

Proteomic databases

PaxDbQ8C7R7.
PRIDEQ8C7R7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000050455; ENSMUSP00000057384; ENSMUSG00000019900. [Q8C7R7-3]
ENSMUST00000122922; ENSMUSP00000116057; ENSMUSG00000019900. [Q8C7R7-1]
GeneID320995.
KEGGmmu:320995.
UCSCuc007fax.2. mouse. [Q8C7R7-2]
uc007fay.1. mouse. [Q8C7R7-1]
uc011xdt.1. mouse. [Q8C7R7-3]

Organism-specific databases

CTD222546.
MGIMGI:2445208. Rfx6.

Phylogenomic databases

eggNOGNOG243313.
GeneTreeENSGT00550000074532.
HOGENOMHOG000154105.
HOVERGENHBG108402.
InParanoidQ8C7R7.
OMAIHDPLNI.
OrthoDBEOG79CXXT.
PhylomeDBQ8C7R7.
TreeFamTF321340.

Gene expression databases

BgeeQ8C7R7.
GenevestigatorQ8C7R7.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR003150. DNA-bd_RFX.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF02257. RFX_DNA_binding. 1 hit.
[Graphical view]
PROSITEPS51526. RFX_DBD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio397819.
PROQ8C7R7.
SOURCESearch...

Entry information

Entry nameRFX6_MOUSE
AccessionPrimary (citable) accession number: Q8C7R7
Secondary accession number(s): Q8CDN5
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot