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Q8C7R7

- RFX6_MOUSE

UniProt

Q8C7R7 - RFX6_MOUSE

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Protein
DNA-binding protein RFX6
Gene
Rfx6, Rfxdc1
Organism
Mus musculus (Mouse)
Status
Reviewed - 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-helix
Add
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
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: Chromosome 10

Organism-specific databases

MGIiMGI:2445208. Rfx6.

Subcellular locationi

Nucleus 1 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 RFX6
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the RFX family.

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.
VSP_030121Add
BLAST
Alternative sequencei519 – 5246SFHLIR → IQCVLQ in isoform 2.
VSP_030122
Alternative sequencei525 – 927403Missing in isoform 2.
VSP_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

« 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(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: July 9, 2014
This is version 97 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