LOCUS       NM_173560               3476 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens regulatory factor X6 (RFX6), mRNA.
ACCESSION   NM_173560
VERSION     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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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  (bases 1 to 3476)
  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 (bases 1 to 3476)
  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 Nov 23, 2018 this sequence version replaced NM_173560.3.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                BC039248.1         30-78
            50-591              CA842450.1         10-551
            592-2095            BC039248.1         621-2124
            2096-2096           CA947154.1         413-413
            2097-3466           BC039248.1         2126-3495
            3467-3476           BQ269808.1         13-22               c
FEATURES             Location/Qualifiers
     source          1..3476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..3476
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /note="regulatory factor X6"
                     /db_xref="GeneID:222546"
                     /db_xref="HGNC:HGNC:21478"
                     /db_xref="MIM:612659"
     exon            1..257
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..2821
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /note="regulatory factor X domain-containing protein 1;
                     regulatory factor X, 6"
                     /codon_start=1
                     /product="DNA-binding protein RFX6"
                     /protein_id="NP_775831.2"
                     /db_xref="CCDS:CCDS5113.1"
                     /db_xref="GeneID:222546"
                     /db_xref="HGNC:HGNC:21478"
                     /db_xref="MIM:612659"
                     /translation="MAKVPELEDTFLQAQPAPQLSPGIQEDCCVQLLGKGLLVYPEET
                     VYLAAEGQPGGEQGGGEKGEDPELPGAVKSEMHLNNGNFSSEEEDADNHDSKTKAADQ
                     YLSQKKTITQIVKDKKKQTQLTLQWLEENYIVCEGVCLPRCILYAHYLDFCRKEKLEP
                     ACAATFGKTIRQKFPLLTTRRLGTRGHSKYHYYGIGIKESSAYYHSVYSGKGLTRFSG
                     SKLKNEGGFTRKYSLSSKTGTLLPEFPSAQHLVYQGCISKDKVDTLIMMYKTHCQCIL
                     DNAINGNFEEIQHFLLHFWQGMPDHLLPLLENPVIIDIFCVCDSILYKVLTDVLIPAT
                     MQEMPESLLADIRNFAKNWEQWVVSSLENLPEALTDKKIPIVRRFVSSLKRQTSFLHL
                     AQIARPALFDQHVVNSMVSDIERVDLNSIGSQALLTISGSTDTESGIYTEHDSITVFQ
                     ELKDLLKKNATVEAFIEWLDTVVEQRVIKTSKQNGRSLKKRAQDFLLKWSFFGARVMH
                     NLTLNNASSFGSFHLIRMLLDEYILLAMETQFNNDKEQELQNLLDKYMKNSDASKAAF
                     TASPSSCFLANRNKGSMVSSDAVKNESHVETTYLPLPSSQPGGLGPALHQFPAGNTDN
                     MPLTGQMELSQIAGHLMTPPISPAMASRGSVINQGPMAGRPPSVGPVLSAPSHCSTYP
                     EPIYPTLPQANHDFYSTSSNYQTVFRAQPHSTSGLYPHHTEHGRCMAWTEQQLSRDFF
                     SGSCAGSPYNSRPPSSYGPSLQAQDSHNMQFLNTGSFNFLSNTGAASCQGATLPPNSP
                     NGYYGSNINYPESHRLGSMVNQHVSVISSIRSLPPYSDIHDPLNILDDSGRKQTSSFY
                     TDTSSPVACRTPVLASSLQTPIPSSSSQCMYGTSNQYPAQETLDSHGTSSREMVSSLP
                     PINTVFMGTAAGGT"
     exon            258..414
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            415..538
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            539..600
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            601..678
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            679..706
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            707..814
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..892
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1006
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1056
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1216
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1361
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1471
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1589
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1712
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1919
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1920..2432
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2433..2645
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2646..3476
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3462..3467
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /note="hexamer: AATAAT"
     polyA_site      3476
                     /gene="RFX6"
                     /gene_synonym="dJ955L16.1; MTCHRS; MTFS; RFXDC1"
                     /note="major polyA site"
ORIGIN      
        1 gcggcgcgcg cggaggtgtc cggcggccag gaggatggcc aaggtcccgg agctggaaga
       61 caccttcctg caggcgcagc ctgcgcccca actgtccccg gggatccagg aagactgctg
      121 tgtgcagctc ctgggcaagg gcttgctagt ctatccggaa gaaacagtgt acctggcggc
      181 cgaagggcag cccgggggcg agcagggcgg cggggagaaa ggcgaagacc cggagctgcc
      241 gggggcagtg aaatcagaaa tgcacttaaa caatggtaac ttttcctctg aagaagagga
      301 cgccgacaac cacgacagca aaaccaaagc agcggatcaa tacctgtctc agaagaaaac
      361 catcacgcag attgtgaagg ataaaaagaa gcagacacag ctcacgctgc agtggcttga
      421 agagaattac attgtatgtg aaggagtttg cttaccacgg tgcattcttt atgcacacta
      481 cttagatttc tgtaggaaag agaaattaga gccagcctgt gcggccacct ttggaaagac
      541 aattcgccag aagtttcccc tcctaacaac aaggcggctt ggaacaagag gccattcaaa
      601 gtatcattac tatgggattg gcatcaaaga gagcagtgca tattaccact ccgtttattc
      661 tggaaagggc ttgacaaggt tttctggaag caagctaaag aatgagggtg gcttcactcg
      721 taaatattcg cttagctcaa aaactggaac acttcttcca gaattcccca gcgctcaaca
      781 ccttgtatac caaggatgca tttctaagga caaggttgat acgctcataa tgatgtacaa
      841 aactcactgc cagtgtatcc tggacaatgc aattaatgga aactttgaag agatccagca
      901 ttttttatta cacttttggc aaggaatgcc tgaccatctc cttcccctgc tcgaaaatcc
      961 tgttatcatt gatattttct gtgtttgtga ctcaattctt tataaggttc ttacagatgt
     1021 actcattcct gcaacaatgc aagaaatgcc tgaaagctta ttagcagaca taagaaattt
     1081 tgctaaaaat tgggaacagt gggttgtttc atccttggaa aacttgccag aagctctaac
     1141 tgacaagaaa atacctattg tgcgaagatt tgtatcttct ctgaaacgac aaacatcttt
     1201 cttacatctt gcccagattg ccagaccagc tctctttgac cagcatgtcg ttaattctat
     1261 ggtgtctgat attgaaaggg ttgatttgaa cagcattggc tctcaagccc ttcttaccat
     1321 ttcaggcagc acagacactg aatctggtat ctacactgaa catgactcta tcactgtgtt
     1381 ccaagaactg aaggatctcc ttaagaagaa tgccactgtg gaggctttta ttgaatggtt
     1441 ggatactgtg gtagaacaga gagttattaa gaccagcaaa caaaatggaa ggtcattaaa
     1501 gaagagagct caagactttc tgttaaagtg gagttttttt ggtgctcgag taatgcataa
     1561 tctcaccttg aacaatgcat ccagttttgg ttcttttcat ttgattcgaa tgcttctcga
     1621 tgaatacatt ctcctggcca tggagaccca gtttaataat gacaaagagc aggagttaca
     1681 gaatttattg gacaagtata tgaagaattc agatgcgagt aaagctgctt tcactgcttc
     1741 tccgagttca tgctttctgg ccaaccgtaa taaagggagc atggtttcca gcgacgctgt
     1801 gaagaatgaa agccacgtgg agacaaccta tctccctctg ccatccagtc aacctggagg
     1861 cctaggccct gctctgcacc agttccctgc tgggaacaca gacaacatgc cgctcacagg
     1921 tcaaatggag ctttcacaga ttgctggtca tctgatgaca ccacccattt ctccagccat
     1981 ggcaagccga ggaagtgtca ttaaccaagg accaatggca gggaggcccc caagtgtggg
     2041 cccagtactg tcagctccat cacactgctc cacataccca gagcccattt atcccactct
     2101 ccctcaagcc aatcatgact tttatagcac cagctctaac taccagactg tgtttagggc
     2161 acagccccac tccacatcag gactctatcc tcatcacacc gagcatggtc gatgcatggc
     2221 ttggactgaa cagcagcttt caagagactt cttcagtggc agctgtgcgg ggtctccata
     2281 taactcccgg ccaccgtcta gctatggccc atccctgcaa gcccaggatt cacacaatat
     2341 gcagttttta aatacaggaa gcttcaattt cttgagcaac acaggagctg ccagctgcca
     2401 aggagcaaca ctgcctccta attcaccaaa tggatactat ggaagcaaca taaactaccc
     2461 agagtctcac aggctcggat caatggtgaa tcagcacgtt tctgtcatca gcagcattcg
     2521 ttcactgccc ccctacagtg acatccacga tccacttaac attttagatg acagtggtag
     2581 aaaacagacc agctcgtttt acacagacac atcatctcca gttgcatgtc gaactccagt
     2641 cctagcttcc agtttgcaaa ccccaattcc ttcttcctca tcccaatgta tgtatggaac
     2701 ttccaaccag tatccagctc aagaaaccct ggactcccat ggaacaagca gtagagaaat
     2761 ggtgtcctct ttaccaccta tcaacactgt gttcatggga acagcagctg gaggcactta
     2821 aaccaccaat gtgggagggg gtgctaaaac tttaaaaaaa atctctactg tgcaaatatc
     2881 attattcact cagacttcca taagagtaaa taaaaatgaa tatgcagtgg ctgacattgt
     2941 tttaaagtca ctggtactat ggacaactcc atagtgaatg gagatacttg cagagcttgt
     3001 catgcacact aagagtttaa aatgtgagct cattattaat catagtttca aaattatcaa
     3061 ataaaaccag tgaagatctg aagatgcaaa catttcaact atgaagattt acatttcact
     3121 ttctaattta ttaaacatct gtgtgccttt ttatctttgg tttcttttaa aaagtatatt
     3181 taatgccttt acaatacctt taatttatta ggatctcaga atcattgttt actatccctt
     3241 atttgacaaa aagtcaaatg tgtatgttct acctccaacg gaaatgttta caaggtcaag
     3301 acttaattca attcagacaa gaccaaagtt gcttgacttc aattcctgtg cattagtgtg
     3361 atgatttctg tcacatagca gcattccgat tctatgtaac tgaatggaga tgataagtgc
     3421 tttcccctct ttatttaaaa aagattaaaa ggaataaaag aaataatgta tggaaa
//
