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Q8HWS3

- RFX6_HUMAN

UniProt

Q8HWS3 - RFX6_HUMAN

Protein

DNA-binding protein RFX6

Gene

RFX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (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 bindingi124 – 19976RFX-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. endocrine pancreas development Source: UniProtKB
    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. regulation of insulin secretion Source: UniProtKB
    8. transcription, DNA-templated Source: UniProtKB-KW
    9. 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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21478. RFX6.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Mitchell-Riley syndrome (MTCHRS) [MIM:615710]: A disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder. There is no dysmorphic features.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti181 – 1811R → Q in MTCHRS; abolishes DNA-binding. 1 Publication
    VAR_062978
    Natural varianti217 – 2171S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years. 1 Publication
    VAR_062979

    Keywords - Diseasei

    Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi615710. phenotype.
    Orphaneti293864. Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome.
    PharmGKBiPA162401254.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 928928DNA-binding protein RFX6PRO_0000313721Add
    BLAST

    Proteomic databases

    PaxDbiQ8HWS3.
    PRIDEiQ8HWS3.

    PTM databases

    PhosphoSiteiQ8HWS3.

    Expressioni

    Tissue specificityi

    Specifically expressed in pancreas, small intestine and colon.1 Publication

    Gene expression databases

    BgeeiQ8HWS3.
    CleanExiHS_RFX6.
    GenevestigatoriQ8HWS3.

    Organism-specific databases

    HPAiHPA037696.

    Interactioni

    Subunit structurei

    Interacts with RFX3.By similarity

    Protein-protein interaction databases

    BioGridi128803. 9 interactions.
    IntActiQ8HWS3. 10 interactions.
    STRINGi9606.ENSP00000332208.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8HWS3.
    SMRiQ8HWS3. Positions 124-198.
    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.
    HOGENOMiHOG000154105.
    HOVERGENiHBG108402.
    OMAiIHDPLNI.
    OrthoDBiEOG79CXXT.
    PhylomeDBiQ8HWS3.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q8HWS3-1 [UniParc]FASTAAdd to Basket

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    MAKVPELEDT FLQAQPAPQL SPGIQEDCCV QLLGKGLLVY PEETVYLAAE    50
    GQPGGEQGGG EKGEDPELPG AVKSEMHLNN GNFSSEEEDA DNHDSKTKAA 100
    DQYLSQKKTI TQIVKDKKKQ TQLTLQWLEE NYIVCEGVCL PRCILYAHYL 150
    DFCRKEKLEP ACAATFGKTI RQKFPLLTTR RLGTRGHSKY HYYGIGIKES 200
    SAYYHSVYSG KGLTRFSGSK LKNEGGFTRK YSLSSKTGTL LPEFPSAQHL 250
    VYQGCISKDK VDTLIMMYKT HCQCILDNAI NGNFEEIQHF LLHFWQGMPD 300
    HLLPLLENPV IIDIFCVCDS ILYKVLTDVL IPATMQEMPE SLLADIRNFA 350
    KNWEQWVVSS LENLPEALTD KKIPIVRRFV SSLKRQTSFL HLAQIARPAL 400
    FDQHVVNSMV SDIERVDLNS IGSQALLTIS GSTDTESGIY TEHDSITVFQ 450
    ELKDLLKKNA TVEAFIEWLD TVVEQRVIKT SKQNGRSLKK RAQDFLLKWS 500
    FFGARVMHNL TLNNASSFGS FHLIRMLLDE YILLAMETQF NNDKEQELQN 550
    LLDKYMKNSD ASKAAFTASP SSCFLANRNK GSMVSSDAVK NESHVETTYL 600
    PLPSSQPGGL GPALHQFPAG NTDNMPLTGQ MELSQIAGHL MTPPISPAMA 650
    SRGSVINQGP MAGRPPSVGP VLSAPSHCST YPEPIYPTLP QANHDFYSTS 700
    SNYQTVFRAQ PHSTSGLYPH HTEHGRCMAW TEQQLSRDFF SGSCAGSPYN 750
    SRPPSSYGPS LQAQDSHNMQ FLNTGSFNFL SNTGAASCQG ATLPPNSPNG 800
    YYGSNINYPE SHRLGSMVNQ HVSVISSIRS LPPYSDIHDP LNILDDSGRK 850
    QTSSFYTDTS SPVACRTPVL ASSLQTPIPS SSSQCMYGTS NQYPAQETLD 900
    SHGTSSREMV SSLPPINTVF MGTAAGGT 928
    Length:928
    Mass (Da):102,461
    Last modified:January 15, 2008 - v2
    Checksum:i9BB5340736CFC903
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61E → K.1 Publication
    Corresponds to variant rs17853900 [ dbSNP | Ensembl ].
    VAR_037709
    Natural varianti17 – 171A → E.
    Corresponds to variant rs9489056 [ dbSNP | Ensembl ].
    VAR_061768
    Natural varianti181 – 1811R → Q in MTCHRS; abolishes DNA-binding. 1 Publication
    VAR_062978
    Natural varianti217 – 2171S → P in MTCHRS; induces a slight reduction in DNA-binding; in a patient still alive at age 4.5 years. 1 Publication
    VAR_062979
    Natural varianti688 – 6881T → A.1 Publication
    Corresponds to variant rs17857184 [ dbSNP | Ensembl ].
    VAR_037710
    Natural varianti743 – 7431S → N.
    Corresponds to variant rs582803 [ dbSNP | Ensembl ].
    VAR_037711

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL355272 Genomic DNA. Translation: CAI23444.2.
    CH471051 Genomic DNA. Translation: EAW48213.1.
    BC039248 mRNA. Translation: AAH39248.1.
    CCDSiCCDS5113.1.
    RefSeqiNP_775831.2. NM_173560.3.
    UniGeneiHs.352276.

    Genome annotation databases

    EnsembliENST00000332958; ENSP00000332208; ENSG00000185002.
    GeneIDi222546.
    KEGGihsa:222546.
    UCSCiuc003pxm.3. human.

    Polymorphism databases

    DMDMi166225159.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL355272 Genomic DNA. Translation: CAI23444.2 .
    CH471051 Genomic DNA. Translation: EAW48213.1 .
    BC039248 mRNA. Translation: AAH39248.1 .
    CCDSi CCDS5113.1.
    RefSeqi NP_775831.2. NM_173560.3.
    UniGenei Hs.352276.

    3D structure databases

    ProteinModelPortali Q8HWS3.
    SMRi Q8HWS3. Positions 124-198.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128803. 9 interactions.
    IntActi Q8HWS3. 10 interactions.
    STRINGi 9606.ENSP00000332208.

    PTM databases

    PhosphoSitei Q8HWS3.

    Polymorphism databases

    DMDMi 166225159.

    Proteomic databases

    PaxDbi Q8HWS3.
    PRIDEi Q8HWS3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000332958 ; ENSP00000332208 ; ENSG00000185002 .
    GeneIDi 222546.
    KEGGi hsa:222546.
    UCSCi uc003pxm.3. human.

    Organism-specific databases

    CTDi 222546.
    GeneCardsi GC06P117199.
    H-InvDB HIX0025215.
    HGNCi HGNC:21478. RFX6.
    HPAi HPA037696.
    MIMi 612659. gene.
    615710. phenotype.
    neXtProti NX_Q8HWS3.
    Orphaneti 293864. Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome.
    PharmGKBi PA162401254.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243313.
    HOGENOMi HOG000154105.
    HOVERGENi HBG108402.
    OMAi IHDPLNI.
    OrthoDBi EOG79CXXT.
    PhylomeDBi Q8HWS3.
    TreeFami TF321340.

    Miscellaneous databases

    GeneWikii RFX6.
    GenomeRNAii 222546.
    NextBioi 91623.
    PROi Q8HWS3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8HWS3.
    CleanExi HS_RFX6.
    Genevestigatori Q8HWS3.

    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 DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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], VARIANTS LYS-6 AND ALA-688.
      Tissue: Testis.
    4. "Identification and characterization of novel human tissue-specific RFX transcription factors."
      Aftab S., Semenec L., Chu J.S.-C., Chen N.
      BMC Evol. Biol. 8:226-226(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    5. Cited for: FUNCTION, DNA-BINDING, TISSUE SPECIFICITY, VARIANTS MTCHRS GLN-181 AND PRO-217, CHARACTERIZATION OF VARIANTS MTCHRS GLN-181 AND PRO-217.

    Entry informationi

    Entry nameiRFX6_HUMAN
    AccessioniPrimary (citable) accession number: Q8HWS3
    Secondary accession number(s): Q5T6B3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 104 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3