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Q8C7R7

- RFX6_MOUSE

UniProt

Q8C7R7 - RFX6_MOUSE

Protein

DNA-binding protein RFX6

Gene

Rfx6

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    2. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. glucose homeostasis Source: UniProtKB
    2. pancreatic A cell differentiation Source: UniProtKB
    3. pancreatic D cell differentiation Source: UniProtKB
    4. pancreatic epsilon cell differentiation Source: UniProtKB
    5. positive regulation of transcription, DNA-templated Source: UniProtKB
    6. regulation of insulin secretion Source: UniProtKB
    7. transcription, DNA-templated Source: UniProtKB-KW
    8. type B pancreatic cell differentiation Source: UniProtKB

    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: Chromosome 10

    Organism-specific databases

    MGIiMGI:2445208. Rfx6.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    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. Align

    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

    MAKVRELEEA FVQEQPSPQL PSEIAEECCA QLLGKGLLVY PEDSAYLLAE    50
    TAAGARSSGE KGGDPGLQVG VKSEMQLNNG NFSSEEEDAD TQESKTKAAD 100
    PQLSQKKSIT QMMKDKKKQT QLTLQWLEDN YIVCEGVCLP RCILYAHYLD 150
    FCRKEKLEPA CAATFGKTIR QKFPLLTTRR LGTRGHSKYH YYGIGIKESS 200
    AYYHSVYSGK GLTRFSGSKL KNEGGFTRKY SLSSKTGTLL PEFPSAQHLV 250
    YQGCISKDKV DTLIMMYKTH CQCILDNAIN GNFEEIQHFL LHFWQGMPDH 300
    LLPLLENPVI IDIFCVCDSI LYKVLTDVLI PATMQEMPES LLADIRNFAK 350
    NWEQWVVSSL ENLPEALIDK KIPILRRFVS SLKRQTSFLH LAQIARPALF 400
    DQHVVNAMVS DIEKVDLNSI GSQALLTISN STDTESDIYS EHDSITVFQE 450
    LKDLLKKNAT VEAFIEWLDT VVEQRVIKMS KQNGRSLKKR AQDFLLKWSF 500
    FGARVMHNLT LNNASSFGSF HLIRMLLDEY ILLAMETQFN NDKEQELQNL 550
    LDKYMKNSDA SKAAFTASPS SCFLANRNKA SSLASDTVKN ESHVETSYVP 600
    LPSSQPGAIP PALHPFSTED TDNMPLPGQI ELSQSTGHLM TPPISPAIAS 650
    RGSVINQGPM ASRPPSVGTV LSAPTHCSTY AEPIYPTLSP ANHDFYGTNS 700
    NYQTMFRTQS HPASSLYAHR AEHGRCMAWT EQQLSRDFFG GSCAGSPYNC 750
    RPPSSYGPST HTQESHSMQV LNTGSFNFLS NAGAGSCQGS TLPSNSPNGY 800
    YGNNINYSEA HRLGSMVNQH VSVISSVRSL PPYSDIHDPL NILDDSSRKQ 850
    NNSFYADTLS PVACRTTVVA SNLQTQIPSS SSQCMYGTSN QYPVQDSLDS 900
    NAASNREMVS SLPPINTVFM GTAAGDT 927
    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.
    The sequence AAI32295.1 differs from that shown. Reason: Erroneous initiation.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Mm.109190.

    3D structure databases

    ProteinModelPortali Q8C7R7.
    SMRi Q8C7R7. Positions 123-197.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000020054.

    PTM databases

    PhosphoSitei Q8C7R7.

    Proteomic databases

    PaxDbi Q8C7R7.
    PRIDEi Q8C7R7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    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 NOG243313.
    GeneTreei ENSGT00550000074532.
    HOGENOMi HOG000154105.
    HOVERGENi HBG108402.
    InParanoidi Q8C7R7.
    OMAi IHDPLNI.
    OrthoDBi EOG79CXXT.
    PhylomeDBi Q8C7R7.
    TreeFami TF321340.

    Miscellaneous databases

    NextBioi 397819.
    PROi Q8C7R7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8C7R7.
    Genevestigatori Q8C7R7.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR003150. DNA-bd_RFX.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF02257. RFX_DNA_binding. 1 hit.
    [Graphical view ]
    PROSITEi PS51526. RFX_DBD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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(2005) [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(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. 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: October 1, 2014
    This is version 98 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