LOCUS       NM_000209               2603 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.
ACCESSION   NM_000209 NM_013311
VERSION     NM_000209.4
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 2603)
  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   2  (bases 1 to 2603)
  AUTHORS   Kim,H., Kim,H.Y., Kim,J.H., Seo,S.H. and Park,K.U.
  TITLE     Novel pathogenic PDX1 gene variant in a Korean family with
            maturity-onset diabetes of the young
  JOURNAL   Cold Spring Harb Mol Case Stud 9 (4), a006305 (2024)
   PUBMED   37652665
  REMARK    GeneRIF: Novel pathogenic PDX1 gene variant in a Korean family with
            maturity-onset diabetes of the young.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2603)
  AUTHORS   Weidemann,B.J., Marcheva,B., Kobayashi,M., Omura,C., Newman,M.V.,
            Kobayashi,Y., Waldeck,N.J., Perelis,M., Lantier,L.,
            McGuinness,O.P., Ramsey,K.M., Stein,R.W. and Bass,J.
  TITLE     Repression of latent NF-kappaB enhancers by PDX1 regulates beta
            cell functional heterogeneity
  JOURNAL   Cell Metab 36 (1), 90-102 (2024)
   PUBMED   38171340
  REMARK    GeneRIF: Repression of latent NF-kappaB enhancers by PDX1 regulates
            beta cell functional heterogeneity.
REFERENCE   4  (bases 1 to 2603)
  AUTHORS   Gurevich,L.E., Vasyukova,O.A., Mikhaleva,L.M., Bondarenko,E.V. and
            Shikina,V.E.
  TITLE     [Characteristics of gastric neuroendocrine tumors and the PDX-1
            transcription factor expression]
  JOURNAL   Arkh Patol 86 (3), 12-20 (2024)
   PUBMED   38881001
  REMARK    GeneRIF: [Characteristics of gastric neuroendocrine tumors and the
            PDX-1 transcription factor expression].
REFERENCE   5  (bases 1 to 2603)
  AUTHORS   Waeber,G., Thompson,N., Nicod,P. and Bonny,C.
  TITLE     Transcriptional activation of the GLUT2 gene by the
            IPF-1/STF-1/IDX-1 homeobox factor
  JOURNAL   Mol Endocrinol 10 (11), 1327-1334 (1996)
   PUBMED   8923459
REFERENCE   6  (bases 1 to 2603)
  AUTHORS   Inoue,H., Riggs,A.C., Tanizawa,Y., Ueda,K., Kuwano,A., Liu,L.,
            Donis-Keller,H. and Permutt,M.A.
  TITLE     Isolation, characterization, and chromosomal mapping of the human
            insulin promoter factor 1 (IPF-1) gene
  JOURNAL   Diabetes 45 (6), 789-794 (1996)
   PUBMED   8635654
REFERENCE   7  (bases 1 to 2603)
  AUTHORS   Stoffel,M., Stein,R., Wright,C.V., Espinosa,R. 3rd, Le Beau,M.M.
            and Bell,G.I.
  TITLE     Localization of human homeodomain transcription factor insulin
            promoter factor 1 (IPF1) to chromosome band 13q12.1
  JOURNAL   Genomics 28 (1), 125-126 (1995)
   PUBMED   7590740
REFERENCE   8  (bases 1 to 2603)
  AUTHORS   Leonard,J., Peers,B., Johnson,T., Ferreri,K., Lee,S. and
            Montminy,M.R.
  TITLE     Characterization of somatostatin transactivating factor-1, a novel
            homeobox factor that stimulates somatostatin expression in
            pancreatic islet cells
  JOURNAL   Mol Endocrinol 7 (10), 1275-1283 (1993)
   PUBMED   7505393
REFERENCE   9  (bases 1 to 2603)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   10 (bases 1 to 2603)
  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 AL353195.14, CA848737.1 and
            U30329.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000209.3.
            
            Summary: The protein encoded by this gene is a transcriptional
            activator of several genes, including insulin, somatostatin,
            glucokinase, islet amyloid polypeptide, and glucose transporter
            type 2. The encoded nuclear protein is involved in the early
            development of the pancreas and plays a major role in
            glucose-dependent regulation of insulin gene expression. Defects in
            this gene are a cause of pancreatic agenesis, which can lead to
            early-onset insulin-dependent diabetes mellitus (IDDM), as well as
            maturity onset diabetes of the young type 4 (MODY4). [provided by
            RefSeq, Aug 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: X99894.1, U30329.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381033.5/ ENSP00000370421.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AL353195.14        8502-8532
            32-601              CA848737.1         1-570
            602-1547            U30329.1           483-1428
            1548-2603           AL353195.14        13760-14815
FEATURES             Location/Qualifiers
     source          1..2603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..2603
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="pancreatic and duodenal homeobox 1"
                     /db_xref="GeneID:3651"
                     /db_xref="HGNC:HGNC:6107"
                     /db_xref="MIM:600733"
     exon            1..545
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..991
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="pancreatic-duodenal homeobox factor 1; somatostatin
                     transcription factor 1; insulin promoter factor 1,
                     homeodomain transcription factor; insulin upstream factor
                     1; glucose-sensitive factor; IPF-1; IUF-1; islet/duodenum
                     homeobox-1; somatostatin-transactivating factor 1"
                     /codon_start=1
                     /product="pancreas/duodenum homeobox protein 1"
                     /protein_id="NP_000200.1"
                     /db_xref="CCDS:CCDS9327.1"
                     /db_xref="GeneID:3651"
                     /db_xref="HGNC:HGNC:6107"
                     /db_xref="MIM:600733"
                     /translation="MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPP
                     PPPHPFPGALGALEQGSPPDISPYEVPPLADDPAVAHLHHHLPAQLALPHPPAGPFPE
                     GAEPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLE
                     LEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGG
                     GVAEPEQDCAVTSGEELLALPPPPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAP
                     RRPQEPR"
     exon            546..2603
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2485..2490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="hexamer: AATAAA"
     polyA_site      2517
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="major polyA site"
     regulatory      2581..2586
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2603
                     /gene="PDX1"
                     /gene_synonym="GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1;
                     PDX-1; STF-1"
ORIGIN      
        1 gagatcagtg cggagctgtc aaagcgagca ggggtggcgc cgggagtggg aacgccacac
       61 agtgccaaat ccccggctcc agctcccgac tcccggctcc cggctcccgg ctcccggtgc
      121 ccaatcccgg gccgcagcca tgaacggcga ggagcagtac tacgcggcca cgcagcttta
      181 caaggaccca tgcgcgttcc agcgaggccc ggcgccggag ttcagcgcca gcccccctgc
      241 gtgcctgtac atgggccgcc agcccccgcc gccgccgccg cacccgttcc ctggcgccct
      301 gggcgcgctg gagcagggca gccccccgga catctccccg tacgaggtgc cccccctcgc
      361 cgacgacccc gcggtggcgc accttcacca ccacctcccg gctcagctcg cgctccccca
      421 cccgcccgcc gggcccttcc cggagggagc cgagccgggc gtcctggagg agcccaaccg
      481 cgtccagctg cctttcccat ggatgaagtc taccaaagct cacgcgtgga aaggccagtg
      541 ggcaggcggc gcctacgctg cggagccgga ggagaacaag cggacgcgca cggcctacac
      601 gcgcgcacag ctgctagagc tggagaagga gttcctattc aacaagtaca tctcacggcc
      661 gcgccgggtg gagctggctg tcatgttgaa cttgaccgag agacacatca agatctggtt
      721 ccaaaaccgc cgcatgaagt ggaaaaagga ggaggacaag aagcgcggcg gcgggacagc
      781 tgtcgggggt ggcggggtcg cggagcctga gcaggactgc gccgtgacct ccggcgagga
      841 gcttctggcg ctgccgccgc cgccgccccc cggaggtgct gtgccgcccg ctgcccccgt
      901 tgccgcccga gagggccgcc tgccgcctgg ccttagcgcg tcgccacagc cctccagcgt
      961 cgcgcctcgg cggccgcagg aaccacgatg agaggcagga gctgctcctg gctgaggggc
     1021 ttcaaccact cgccgaggag gagcagaggg cctaggagga ccccgggcgt ggaccacccg
     1081 ccctggcagt tgaatggggc ggcaattgcg gggcccacct tagaccgaag gggaaaaccc
     1141 gctctctcag gcgcatgtgc cagttggggc cccgcgggta gatgccggca ggccttccgg
     1201 aagaaaaaga gccattggtt tttgtagtat tggggccctc ttttagtgat actggattgg
     1261 cgttgtttgt ggctgttgcg cacatccctg ccctcctaca gcactccacc ttgggacctg
     1321 tttagagaag ccggctcttc aaagacaatg gaaactgtac catacacatt ggaaggctcc
     1381 ctaacacaca cagcggggaa gctgggccga gtaccttaat ctgccataaa gccattctta
     1441 ctcgggcgac ccctttaagt ttagaaataa ttgaaaggaa atgtttgagt tttcaaagat
     1501 cccgtgaaat tgatgccagt ggaatacagt gagtcctcct cttcctcctc ctcctcttcc
     1561 ccctcccctt cctcctcctc ctcttctttt ccctcctctt cctcttcctc ctgctctcct
     1621 ttcctccccc tcctcttttc cctcctcttc ctcttcctcc tgctctcctt tcctccccct
     1681 cctctttctc ctcctcctcc tcttcttccc cctcctctcc ctcctcctct tcttccccct
     1741 cctctccctc ctcctcttct tctccctcct cttcctcttc ctcctcttcc acgtgctctc
     1801 ctttcctccc cctcctcttg ctccccttct tccccgtcct cttcctcctc ctcctcttct
     1861 tctccctcct cttcctcctc ctctttcttc ctgacctctt tctttctcct cctcctcctt
     1921 ctacctcccc ttctcatccc tcctcttcct cttctctagc tgcacacttc actactgcac
     1981 atcttataac ttgcacccct ttcttctgag gaagagaaca tcttgcaagg cagggcgagc
     2041 agcggcaggg ctggcttagg agcagtgcaa gagtccctgt gctccagttc cacactgctg
     2101 gcagggaagg caagggggga cgggcctgga tctgggggtg agggagaaag atggacccct
     2161 gggtgaccac taaaccaaag atattcggaa ctttctattt aggatgtgga cgtaattcct
     2221 gttccgaggt agaggctgtg ctgaagacaa gcacagtggc ctggtgcgcc ttggaaacca
     2281 acaactattc acgagccagt atgaccttca catctttaga aattatgaaa acgtatgtga
     2341 ttggagggtt tggaaaacca gttatcttat ttaacatttt aaaaattacc taacagttat
     2401 ttacaaacag gtctgtgcat cccaggtctg tcttcttttc aaggtctggg ccttgtgctc
     2461 gggttatgtt tgtgggaaat gcttaataaa tactgataat atgggaagag atgaaaactg
     2521 attctcctca ctttgtttca aacctttctg gcagtgggat gattcgaatt cacttttaaa
     2581 attaaattag cgtgttttgt ttt
//
