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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDX1 Gene

protein-coding   GIFtS: 63
GCID: GC13P028494

Pancreatic And Duodenal Homeobox 1

(Previous names: insulin promoter factor 1, homeodomain transcription factor)
(Previous symbol: IPF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pancreatic And Duodenal Homeobox 11 2     IPF-12 3
IPF11 2 3 5     IUF-12 3
Insulin Promoter Factor 1, Homeodomain Transcription Factor1 2     PDX-12 3
Somatostatin Transcription Factor 11 2     STF-12 3
Glucose-Sensitive Factor2 3     MODY42 5
Insulin Upstream Factor 12 3     IUF12
Islet/Duodenum Homeobox-12 3     Pancreas/Duodenum Homeobox Protein 12
Somatostatin-Transactivating Factor 12 3     Pancreatic-Duodenal Homeobox Factor 12
GSF2 3     STF13
IDX-12 3     Insulin Promoter Factor 13

External Ids:    HGNC: 61071   Entrez Gene: 36512   Ensembl: ENSG000001395157   OMIM: 6007335   UniProtKB: P529453   

Export aliases for PDX1 gene to outside databases

Previous GC identifers: GC11P036490 GC11P035616 GC13P027393 GC13P009314


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDX1 Gene:
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)

GeneCards Summary for PDX1 Gene: 
PDX1 (pancreatic and duodenal homeobox 1) is a protein-coding gene. Diseases associated with PDX1 include pancreatic agenesis, and pdx1-related permanent neonatal diabetes mellitus, and among its related super-pathways are Type II diabetes mellitus and Regulation of beta-cell development. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSX1.

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945
Function: Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2
gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part
of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the
ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex
(PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During
development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent
differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell

Gene Wiki entry for PDX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDX1 gene promoter:
         RORalpha1   HEN1   NRSF form 1   Egr-1   p300   AP-4   NRSF form 2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.1   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12.1

PDX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDX1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P028494:  view genomic region     (about GC identifiers)

Start:
28,494,157 bp from pter      End:
28,500,451 bp from pter
Size:
6,295 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945 (See protein sequence)
Recommended Name: Pancreas/duodenum homeobox protein 1  
Size: 283 amino acids; 30771 Da
Subunit: Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts
with SPOP (By similarity). Interacts with the methyltransferase SETD7. Part of a PDX1:PBX1b:MEIS2b complex
Subcellular location: Nucleus. Cytoplasm, cytosol (By similarity)
Miscellaneous: According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of
methylation is unsure in vivo
Secondary accessions: O60594 Q5VYW2

Explore the universe of human proteins at neXtProt for PDX1: NX_P52945

Explore proteomics data for PDX1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on
    Ser-268 upon glucose accumulation. This phoyphorylation mediates subnuclear localization shifting.
    Phosphorylation by PASK may lead to translocation into the cytosol (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52945

  • PDX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDX1 Protein Expression
    REFSEQ proteins: NP_000200.1  
    ENSEMBL proteins: 
     ENSP00000370421  
    Reactome Protein details: P52945
    Human Recombinant Protein Products for PDX1: 
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    Novus Biologicals PDX1 Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    PDX1 for ontologies           About GeneDecksing



    PDX1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    5 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017995 Homeobox_antennapedia
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P52945

    ProtoNet protein and cluster: P52945

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB001827 Homeobox protein


    UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945
    Domain: The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin
    promoter (By similarity)
    Domain: The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also
    acts as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y) (By similarity)
    Similarity: Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    PDX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDX1_HUMAN, P52945
    Function: Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2
    gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part
    of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the
    ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex
    (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During
    development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent
    differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell

         Genatlas biochemistry entry for PDX1:
    lipoyl-containing protein (protein X),subunit of the pyruvate dehydrogenase complex,tightly associated with E2 and
    binding E3 subunit

         Summary:
    During embryonic development, PDX1 as signaling molecule is secreted from the following cells: Angioblasts in Embryonic Capillary Plexus It affects the following cells: Dorsal Foregut Endoderm Cells in Dorsal Foregut Endoderm, Pancreatic Progenitor Cells in Dorsal Pancreatic Bud

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS17941991
    GO:0005515protein binding ----
         
    PDX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDX1:
     Decreased viability with pacli  Synthetic lethal with Ras 

         13 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Pdx1):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 
     no phenotypic analysis  normal  renal/urinary system 

    PDX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PDX1: Pdx1tm1Ted Pdx1tm1Cvw Pdx1tm3Cvw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PDX1 
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    hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidPDX1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDX1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Regulation of gene expression in beta cells0.56
    Maturity onset diabetes of the young0.56
    3Axon guidance
    Developmental Biology0.69
    4Insulin secretion
    Insulin secretion0.36
    5GABA A receptor activation
    GABA signaling in brain0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PDX1
        GABA signaling in brain
    Selected targets of HNF1


    1 Cell Signaling Technology (CST) Pathway for PDX1
        Glucose / Energy Metabolism

    2 BioSystems Pathways for PDX1
        Type II diabetes mellitus
    FOXA2 and FOXA3 transcription factor networks

    4        Reactome Pathways for PDX1
        Regulation of gene expression in beta cells
    Developmental Biology
    Regulation of beta-cell development
    Regulation of gene expression in early pancreatic precursor cells

    1 PharmGKB Pathway for PDX1
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for PDX1):
        Insulin secretion
    Type II diabetes mellitus
    Maturity onset diabetes of the young


    PDX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/25 Interacting proteins for PDX1 (P529452, 3 ENSP000003704214) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PASKQ96RG22, 3, ENSP000002340404MINT-8145315 I2D: score=1 STRING: ENSP00000234040
    MAFAQ8NHW33, ENSP000003283644I2D: score=2 STRING: ENSP00000328364
    NEUROD1Q135623, ENSP000002951084I2D: score=1 STRING: ENSP00000295108
    PRKDCP785273, ENSP000003134204I2D: score=1 STRING: ENSP00000313420
    XRCC6P129563, ENSP000003522574I2D: score=1 STRING: ENSP00000352257
    About this table

    Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001889liver development IEA--
    GO:0003309type B pancreatic cell differentiation ISS--
    GO:0006006glucose metabolic process IEA--
    GO:0006091generation of precursor metabolites and energy TAS8954967

    PDX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDX1

    10/31 Novoseek inferred chemical compound relationships for PDX1 gene (see all 31)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    c-peptide 68.2 11 19757377 (1), 16630561 (1), 17612586 (1), 16186387 (1) (see all 8)
    preproinsulin 68.2 12 11319727 (2), 14563207 (2), 15935394 (2), 16213778 (1) (see all 5)
    glucose 68 169 11574405 (7), 10426567 (6), 7980425 (6), 9252422 (5) (see all 71)
    i-app 54.8 8 10748090 (4), 8922372 (2), 17426693 (1), 11118882 (1)
    nicotinamide 51 2 18060872 (2)
    incretin 50.5 1 12323111 (1)
    proglucagon 37.2 2 16213778 (1)
    sulfonylurea 34.6 2 16339272 (1), 18708284 (1)
    streptozotocin 33.7 2 17426693 (1)
    lactacystin 31.9 1 12488243 (1)

    Search CenterWatch for drugs/clinical trials and news about PDX1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDX1 gene: 
    NM_000209.3  

    Unigene Cluster for PDX1:

    Pancreatic and duodenal homeobox 1
    Hs.32938  [show with all ESTs]
    Unigene Representative Sequence: NM_000209
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000381033(uc001urt.2)
    miRNA
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    Additional mRNA sequence: 

    U30329.1 U35632.1 X99894.1 

    2 DOTS entries:

    DT.97763786  DT.97835837 

    24/26 AceView cDNA sequences (see all 26):

    CA848737 U30329 BM504017 CA849020 U35632 CA843531 BV183905 CB068470 
    CA777063 CA867458 BM352781 CA843291 X99894 CB177387 CA777186 NM_000209 
    BI715297 CB177388 CA776904 BM510164 CA771381 CA776782 BI714743 CA771073 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDX1 expression in normal human tissues (normalized intensities)      PDX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PDX1 Expression
    About this image


    PDX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 45 entries
             Delta Cells Islets of Langerhans
             Islets of Langerhans
             Beta-like cells ( Generation of beta cells through a definitive endoderm stage )
             pancreas ; exocrine glandular cells   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 6 entries
             Dorsal Foregut Endoderm Cells Dorsal Foregut Endoderm
             Anterior foregut progenitor cells ( Directed differentiation of human embryonic stem...
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             duodenum ; glandular cells   
             duodenum   
     
     Ovary (Reproductive System)
             oocyte   
     
     Gall Bladder (Hepatobiliary System)
             gallbladder ; glandular cells   

    See PDX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDX1

    SOURCE GeneReport for Unigene cluster: Hs.32938

    UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945
    Tissue specificity: Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine
    non-beta-cells, at low levels in acinar cells)

        SABiosciences Expression via Pathway-Focused PCR Arrays including PDX1: 
              Insulin Resistance in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Diabetes in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PDX1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdx11 , 5 pancreatic and duodenal homeobox 11, 5 83.51(n)1
    87.99(a)1
      5 (86.84 cM)5
    186091  NM_008814.31  NP_032840.11 
     1472699595 
    chicken
    (Gallus gallus)
    Aves PDX11 pancreatic and duodenal homeobox 1 79.85(n)
    77.73(a)
      771348  XM_001234635.1  XP_001234636.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDX16
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343306.1(1494109-1527270)
    zebrafish
    (Danio rerio)
    Actinopterygii ipf12 insulin promoter factor 1, homeodomain transcription more 76.49(n)   30721  AF036325.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pb6
    proboscipedia
    7(a)
    1 ↔ 1
    3R(2533518-2567785)
    worm
    (Caenorhabditis elegans)
    Secernentea C30H6.73 2-oxo acid dehydrogenases
    acyltransferase (catalytic more
    38(a)   IV(17380689-17381694)   --


    ENSEMBL Gene Tree for PDX1 (if available)
    TreeFam Gene Tree for PDX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDX1 gene
    GSX12  HOXA72  HOXA12  HOXB32  HOXD12  HOXA22  HOXB52  HOXC62  
    HOXC52  GSX22  HOXB42  HOXA52  HOXA42  HOXD32  HOXA62  HOXC82  
    HOXA32  HOXD82  HOXB62  HOXB12  HOXB82  HOXD42  HOXB22  HOXB72  
    HOXC42  
    2 SIMAP similar genes for PDX1 using alignment to 1 protein entry:     PDX1_HUMAN:
    HOXC6    HOXB4

    PDX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/199 SNPs in PDX1 are shown (see all 199)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0093104
    Maturity-onset diabetes of the young 4 (MODY4)4--see VAR_0093102 Q L mis40--------
    VAR_0093094
    Maturity-onset diabetes of the young 4 (MODY4)4--see VAR_0093092 C R mis40--------
    VAR_0093124
    Maturity-onset diabetes of the young 4 (MODY4)4--see VAR_0093122 R H mis40--------
    rs803566611,2
    Cpathogenic19452707(+) AAGGAG/TTTCCT 2 E D mis10--------
    rs803566621,2
    Cpathogenic19452747(+) GGGTGA/GAGCTG 2 K E mis10--------
    rs285094411,2
    Cprobable-non-pathogenic19448666(+) GCCCTA/GGGCGC 2 L syn1 ese30--------
    rs754989351,2
    C,Fprobable-non-pathogenic19452758(+) GCTGTC/TATGTT 2 V syn11Minor allele frequency- T:0.00NA 4544
    rs1939223581,2
    Cprobable-pathogenic19452940(+) GCCGCC/TGCCCC 2 P L mis10--------
    rs1939223511,2
    Cunknown19448487(+) GTGCCC/TAATCC 1 -- ut510--------
    rs1929020981,2
    Cunknown19448601(+) GCCCCA/CCTGCG 2 T P mis10--------

    HapMap Linkage Disequilibrium report for PDX1 (28494157 - 28500451 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PDX1: --

    Human Gene Mutation Database (HGMD): PDX1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PDX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600733   
    OMIM disorders: 260370  606392  125853  
    UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945
  • Pancreatic agenesis, congenital (PAGEN) [MIM:260370]: Autosomal recessive disorder is characterized by
    absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This was found in
    a frameshift mutation that produces a truncated protein and results in a second initiation that produces a second
    protein that act as a dominant negative mutant. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]: A form of diabetes that is characterized by
    an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of
    age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/48 diseases for PDX1 (see all 48):    About MalaCards
    pancreatic agenesis    pdx1-related permanent neonatal diabetes mellitus    maturity-onset diabetes of the young, type 4    duodenitis
    pancreatic gastrinoma    e3-binding protein deficiency    diabetes mellitus    maturity-onset diabetes of the young
    permanent neonatal diabetes mellitus    neonatal diabetes mellitus    pancreatitis    pyruvate decarboxylase deficiency
    endocervicitis    hyperinsulinemic hypoglycemia    gastrinoma    monogenic diabetes
    glucagonoma    hyperglycemia    pancreatic endocrine tumor    glucose intolerance

    3 diseases from the University of Copenhagen DISEASES database for PDX1:
    maturity-onset diabetes of the young     Diabetes mellitus     Hyperglycemia

    PDX1 for disorders           About GeneDecksing

    10/24 Novoseek inferred disease relationships for PDX1 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neonatal diabetes mellitus 77.8 3 19496967 (2)
    niddm 74.2 38 10720084 (3), 11078452 (2), 9887471 (2), 15754742 (2) (see all 25)
    insulinoma 67.2 14 18219478 (2), 10940482 (1), 15144884 (1), 15743769 (1) (see all 10)
    hyperglycemia 66.1 6 18086901 (1), 19393272 (1), 19656489 (1), 19817786 (1) (see all 5)
    pancreas exocrine 55.2 3 20009086 (2), 11246871 (1)
    diabetes mellitus 50.5 14 18406800 (2), 9326926 (1), 15144884 (1), 9628281 (1) (see all 9)
    glucose intolerance 39.1 1 17003335 (1)
    pancreatic cancer 38.7 35 17552012 (7), 12947327 (6), 18665085 (4), 17161985 (2) (see all 7)
    metaplasia 32.2 10 16938521 (6), 14960508 (1), 18400571 (1)
    glucagonoma 32.1 3 15862113 (1), 10580420 (1)

    GeneTests: PDX1
    GeneReviews: PDX1
    Genetic Association Database (GAD): PDX1
    Human Genome Epidemiology (HuGE) Navigator: PDX1 (24 documents)

    Export disorders for PDX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDX1 gene, integrated from 9 sources (see all 423):
    (articles sorted by number of sources associating them with PDX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. (PubMed id 7590740)1, 2, 3 Stoffel M....Bell G.I. (1995)
    2. The p38/reactivating kinase mitogen-activated protein kinase cascade mediates the activation of the transcription factor insulin upstream factor 1 and insulin gene transcription by high glucose in pancreatic beta-cells. (PubMed id 9252422)1, 2, 9 Macfarlane W.M.... Docherty K. (1997)
    3. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. (PubMed id 10545531)1, 2, 9 Hani E.H.... Froguel P. (1999)
    4. Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene. (PubMed id 8635654)1, 2, 9 Inoue H.... Permutt M.A. (1996)
    5. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (PubMed id 10545530)1, 2, 9 Macfarlane W.M.... Hattersley A.T. (1999)
    6. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (PubMed id 19228875)1, 4, 9 Haaland W.C....Metzker M.L. (2009)
    7. Assessment of genetic risk for myocardial infarction. (PubMed id 16894468)1, 4, 9 Yamada Y....Nozawa Y. (2006)
    8. Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. (PubMed id 17003361)1, 4, 9 Elbein S.C....Kao W.H. (2006)
    9. Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II elongation during activation of insulin transcription. (PubMed id 16141209)1, 2, 9 Francis J.... Mirmira R.G. (2005)
    10. Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors. (PubMed id 17143557)1, 4, 9 Nishihama K....Nozawa Y. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3651 HGNC: 6107 AceView: IPF1 Ensembl:ENSG00000139515 euGenes: HUgn3651
    ECgene: PDX1 Kegg: 3651 H-InvDB: PDX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDX1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDX1 gene:
    Search GeneIP for patents involving PDX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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