LOCUS       NP_775831                928 aa            linear   PRI 12-FEB-2025
DEFINITION  DNA-binding protein RFX6 [Homo sapiens].
ACCESSION   NP_775831
VERSION     NP_775831.2
DBSOURCE    REFSEQ: accession NM_173560.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 928)
  AUTHORS   Zhong,M., Xu,W., Tian,P., Zhang,Q., Wang,Z., Liang,L., Zhang,Q.,
            Yang,Y., Lu,Y. and Wei,G.H.
  TITLE     An Inherited Allele Confers Prostate Cancer Progression and Drug
            Resistance via RFX6/HOXA10-Orchestrated TGFbeta Signaling
  JOURNAL   Adv Sci (Weinh) 11 (32), e2401492 (2024)
   PUBMED   38932472
  REMARK    GeneRIF: An Inherited Allele Confers Prostate Cancer Progression
            and Drug Resistance via RFX6/HOXA10-Orchestrated TGFbeta Signaling.
REFERENCE   2  (residues 1 to 928)
  AUTHORS   Ibrahim,H., Balboa,D., Saarimaki-Vire,J., Montaser,H., Dyachok,O.,
            Lund,P.E., Omar-Hmeadi,M., Kvist,J., Dwivedi,O.P., Lithovius,V.,
            Barsby,T., Chandra,V., Eurola,S., Ustinov,J., Tuomi,T.,
            Miettinen,P.J., Barg,S., Tengholm,A. and Otonkoski,T.
  TITLE     RFX6 haploinsufficiency predisposes to diabetes through impaired
            beta cell function
  JOURNAL   Diabetologia 67 (8), 1642-1662 (2024)
   PUBMED   38743124
  REMARK    GeneRIF: RFX6 haploinsufficiency predisposes to diabetes through
            impaired beta cell function.
REFERENCE   3  (residues 1 to 928)
  AUTHORS   Sanchez,J.G., Rankin,S., Paul,E., McCauley,H.A., Kechele,D.O.,
            Enriquez,J.R., Jones,N.H., Greeley,S.A.W., Letourneau-Frieberg,L.,
            Zorn,A.M., Krishnamurthy,M. and Wells,J.M.
  TITLE     RFX6 regulates human intestinal patterning and function upstream of
            PDX1
  JOURNAL   Development 151 (9) (2024)
   PUBMED   38587174
  REMARK    GeneRIF: RFX6 regulates human intestinal patterning and function
            upstream of PDX1.
            Erratum:[Development. 2024 Sep 15;151(18):dev204379. doi:
            10.1242/dev.204379.. PMID: 39302049]
REFERENCE   4  (residues 1 to 928)
  AUTHORS   Coykendall,V.M.N., Qian,M.F., Tellez,K., Bautista,A.,
            Bevacqua,R.J., Gu,X., Hang,Y., Neukam,M., Zhao,W., Chang,C.,
            MacDonald,P.E. and Kim,S.K.
  TITLE     RFX6 Maintains Gene Expression and Function of Adult Human Islet
            alpha-Cells
  JOURNAL   Diabetes 73 (3), 448-460 (2024)
   PUBMED   38064570
  REMARK    GeneRIF: RFX6 Maintains Gene Expression and Function of Adult Human
            Islet alpha-Cells.
REFERENCE   5  (residues 1 to 928)
  AUTHORS   Qiu,Z., Wang,C., Huang,P., Yuan,Y., Shi,Y., Lin,Z., Huang,Z.,
            Zuo,D., Qiu,J., He,W., Shen,J., Niu,Y., Yuan,Y. and Li,B.
  TITLE     RFX6 facilitates aerobic glycolysis-mediated growth and metastasis
            of hepatocellular carcinoma through targeting PGAM1
  JOURNAL   Clin Transl Med 13 (12), e1511 (2023)
   PUBMED   38093528
  REMARK    GeneRIF: RFX6 facilitates aerobic glycolysis-mediated growth and
            metastasis of hepatocellular carcinoma through targeting PGAM1.
REFERENCE   6  (residues 1 to 928)
  AUTHORS   Pearl,E.J., Jarikji,Z. and Horb,M.E.
  TITLE     Functional analysis of Rfx6 and mutant variants associated with
            neonatal diabetes
  JOURNAL   Dev Biol 351 (1), 135-145 (2011)
   PUBMED   21215266
  REMARK    GeneRIF: In early development Rfx6 plays a broad role, being
            essential for development of most anterior endodermal organs. At
            later stages however, Rfx6 function is restricted to endocrine
            cells.
REFERENCE   7  (residues 1 to 928)
  AUTHORS   Takata,R., Akamatsu,S., Kubo,M., Takahashi,A., Hosono,N.,
            Kawaguchi,T., Tsunoda,T., Inazawa,J., Kamatani,N., Ogawa,O.,
            Fujioka,T., Nakamura,Y. and Nakagawa,H.
  TITLE     Genome-wide association study identifies five new susceptibility
            loci for prostate cancer in the Japanese population
  JOURNAL   Nat Genet 42 (9), 751-754 (2010)
   PUBMED   20676098
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 928)
  AUTHORS   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., Vanden Eijnden,S., Abramowicz,M.,
            Kacet,N., Weill,J., Renard,M.E., Gentile,M., Hansen,I., Dewar,K.,
            Hattersley,A.T., Wang,R., Wilson,M.E., Johnson,J.D.,
            Polychronakos,C. and German,M.S.
  TITLE     Rfx6 directs islet formation and insulin production in mice and
            humans
  JOURNAL   Nature 463 (7282), 775-780 (2010)
   PUBMED   20148032
  REMARK    GeneRIF: studies demonstrate a unique position for Rfx6 in the
            hierarchy of factors that coordinate pancreatic islet development
            in both mice and humans
REFERENCE   9  (residues 1 to 928)
  AUTHORS   Aftab,S., Semenec,L., Chu,J.S. and Chen,N.
  TITLE     Identification and characterization of novel human tissue-specific
            RFX transcription factors
  JOURNAL   BMC Evol Biol 8, 226 (2008)
   PUBMED   18673564
  REMARK    GeneRIF: RFX6 is a winged helix transcription factor expressed
            almost exclusively in the pancreatic islets.
            Publication Status: Online-Only
REFERENCE   10 (residues 1 to 928)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039248.1, CA842450.1,
            CA947154.1 and BQ269808.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 15, 2009 this sequence version replaced NP_775831.1.
            
            Summary: The nuclear protein encoded by this gene is a member of
            the regulatory factor X (RFX) family of transcription factors.
            Studies in mice suggest that this gene is specifically required for
            the differentiation of islet cells for the production of insulin,
            but not for the differentiation of pancreatic polypeptide-producing
            cells. It regulates the transcription factors involved in beta-cell
            maturation and function, thus, restricting the expression of the
            beta-cell differentiation and specification genes. Mutations in
            this gene are associated with Mitchell-Riley syndrome, which is
            characterized by neonatal diabetes with pancreatic hypoplasia,
            duodenal and jejunal atresia, and gall bladder agenesis.[provided
            by RefSeq, Sep 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039248.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332958.3/ ENSP00000332208.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..928
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     Protein         1..928
                     /product="DNA-binding protein RFX6"
                     /note="regulatory factor X domain-containing protein 1;
                     regulatory factor X, 6"
                     /calculated_mol_wt=102330
     Region          1..20
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8HWS3.2)"
     Region          50..98
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8HWS3.2)"
     Region          124..199
                     /region_name="RFX_DNA_binding"
                     /note="RFX DNA-binding domain; pfam02257"
                     /db_xref="CDD:460512"
     CDS             1..928
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /coded_by="NM_173560.4:35..2821"
                     /db_xref="CCDS:CCDS5113.1"
                     /db_xref="GeneID:222546"
                     /db_xref="HGNC:HGNC:21478"
                     /db_xref="MIM:612659"
ORIGIN      
        1 makvpeledt flqaqpapql spgiqedccv qllgkgllvy peetvylaae gqpggeqggg
       61 ekgedpelpg avksemhlnn gnfsseeeda dnhdsktkaa dqylsqkkti tqivkdkkkq
      121 tqltlqwlee nyivcegvcl prcilyahyl dfcrkeklep acaatfgkti rqkfpllttr
      181 rlgtrghsky hyygigikes sayyhsvysg kgltrfsgsk lkneggftrk yslssktgtl
      241 lpefpsaqhl vyqgciskdk vdtlimmykt hcqcildnai ngnfeeiqhf llhfwqgmpd
      301 hllpllenpv iidifcvcds ilykvltdvl ipatmqempe slladirnfa knweqwvvss
      361 lenlpealtd kkipivrrfv sslkrqtsfl hlaqiarpal fdqhvvnsmv sdiervdlns
      421 igsqalltis gstdtesgiy tehdsitvfq elkdllkkna tveafiewld tvveqrvikt
      481 skqngrslkk raqdfllkws ffgarvmhnl tlnnassfgs fhlirmllde yillametqf
      541 nndkeqelqn lldkymknsd askaaftasp sscflanrnk gsmvssdavk neshvettyl
      601 plpssqpggl gpalhqfpag ntdnmpltgq melsqiaghl mtppispama srgsvinqgp
      661 magrppsvgp vlsapshcst ypepiyptlp qanhdfysts snyqtvfraq phstsglyph
      721 htehgrcmaw teqqlsrdff sgscagspyn srppssygps lqaqdshnmq flntgsfnfl
      781 sntgaascqg atlppnspng yygsninype shrlgsmvnq hvsvissirs lppysdihdp
      841 lnilddsgrk qtssfytdts spvacrtpvl asslqtpips sssqcmygts nqypaqetld
      901 shgtssremv sslppintvf mgtaaggt
//
