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    PDX1 pancreatic and duodenal homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 3651, updated on 7-Feb-2016
    Official Symbol
    PDX1provided by HGNC
    Official Full Name
    pancreatic and duodenal homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:6107
    See related
    Ensembl:ENSG00000139515; HPRD:02843; MIM:600733; Vega:OTTHUMG00000016638
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1
    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 (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008]
    Orthologs
    See PDX1 in Epigenomics, MapViewer
    Location:
    13q12.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (27919994..27926314)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28494168..28500451)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene GS homeobox 1 Neighboring gene PDX1 antisense RNA 1 Neighboring gene uncharacterized LOC105370130 Neighboring gene ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 Neighboring gene caudal type homeobox 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs
    Maturity-onset diabetes of the young, type 4
    MedGen: C1833382 OMIM: 606392 GeneReviews: Not available
    Compare labs
    Pancreatic agenesis, congenital
    MedGen: C1850096 OMIM: 260370 GeneReviews: Not available
    Compare labs
    Permanent neonatal diabetes mellitus Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    NHGRI GWA Catalog
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystemThe properties of transcriptional networks early in the differentiation of human pancreatic cells are inferred from the properties of well-studied networks in mouse models. In mice, the first visible...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    detection of glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    endocrine pancreas development TAS
    Traceable Author Statement
    more info
     
    exocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of embryonic epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of type B pancreatic cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    nitric oxide mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    organ senescence IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to chlorate IEA
    Inferred from Electronic Annotation
    more info
     
    response to cytokine IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to iron(II) ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to leucine IEA
    Inferred from Electronic Annotation
    more info
     
    response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transdifferentiation IEA
    Inferred from Electronic Annotation
    more info
     
    type B pancreatic cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type B pancreatic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    pancreas/duodenum homeobox protein 1
    Names
    IPF-1
    IUF-1
    glucose-sensitive factor
    insulin promoter factor 1, homeodomain transcription factor
    insulin upstream factor 1
    islet/duodenum homeobox-1
    pancreatic-duodenal homeobox factor 1
    somatostatin transcription factor 1
    somatostatin-transactivating factor 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008183.1 RefSeqGene

      Range
      5001..11284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000209.3NP_000200.1  pancreas/duodenum homeobox protein 1

      See identical proteins and their annotated locations for NP_000200.1

      Status: REVIEWED

      Source sequence(s)
      AL353195, CA848737, U30329
      Consensus CDS
      CCDS9327.1
      UniProtKB/Swiss-Prot
      P52945
      Related
      ENSP00000370421, OTTHUMP00000018174, ENST00000381033, OTTHUMT00000044310
      Conserved Domains (1) summary
      cd00086
      Location:147205
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

      Range
      27919994..27926314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_941580.1 RNA Sequence

    2. XR_941579.1 RNA Sequence

    3. XR_941578.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      28462445..28468728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)