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

PDX1 Gene

protein-coding   GIFtS: 64
GCID: GC13P028494

pancreatic and duodenal homeobox 1

(Previous names: insulin promoter factor 1, homeodomain transcription factor...)
(Previous symbol: IPF1)
 Explore 50 diseases affiliated with
PDX1 via
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Biological research products
for PDX1    

Aliases
for PDX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pancreatic And Duodenal Homeobox 11 2     Somatostatin-Transactivating Factor 12 3
IPF11 2 3 5     GSF2 3
IDX-11 2 3     IPF-12 3
PDX-11 2 3     IUF-12 3
STF-11 2 3     IUF12
MODY41 2 5     Pancreas/Duodenum Homeobox Protein 12
Insulin Promoter Factor 1, Homeodomain Transcription Factor1 2     Pancreatic-Duodenal Homeobox Factor 12
Glucose-Sensitive Factor2 3     Somatostatin Transcription Factor 12
Insulin Upstream Factor 12 3     STF13
Islet/Duodenum Homeobox-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


Summaries
for PDX1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  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 plasmid: PDX1 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

Proteins
for PDX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52945

    • PDX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000200.1  
    ENSEMBL proteins: 
     ENSP00000370421  
    Reactome Protein details: P52945
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: PDX1
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    Novus Biologicals PDX1 Protein
    Novus Biologicals PDX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol IEA--
    GO:0044424intracellular part ----


    PDX1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for PDX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDX1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for PDX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDX1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PDX1:
    hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmid: PDX1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: PDX1
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDX1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PDX1

    In Situ Assay
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    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


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

    Animal Models:
         Mouse knock-outs for PDX1: Pdx1tm1Ted Pdx1tm1Cvw Pdx1tm3Cvw
         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


    Pathways & Interactions
    for PDX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of beta-cell development
    		Regulation of beta-cell development1.00
    		Regulation of gene expression in beta cells0.56
    		Maturity onset diabetes of the young0.56
    2Type II diabetes mellitus
    		Type II diabetes mellitus1.00
    		Type II diabetes mellitus0.35
    		Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    3Regulation of gene expression in early pancreatic precursor cells
    		Regulation of gene expression in early pancreatic precursor cells1.00
    		FOXOA2-, MAFA-, and PAX6-dependent synthesis of PDX1 protein0.17
    		HNF6- and FGF10-dependent synthesis of PDX1 protein0.17
    4Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    5Selected targets of HNF1
    		Selected targets of HNF11.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/6        Reactome Pathways for PDX1 (see all 6)
        Regulation of gene expression in beta cells
    Developmental Biology
    HNF6- and FGF10-dependent synthesis of PDX1 protein
    Regulation of beta-cell development
    FOXOA2-, MAFA-, and PAX6-dependent synthesis of PDX1 protein

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

    2         Kegg Pathways  (Kegg details for PDX1):
        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): 5/42 biological process terms (GO ID links to tree view) (see all 42):    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



    Drugs & Compounds
    for PDX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for PDX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

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    SwitchGear 3'UTR luciferase reporter plasmid: PDX1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    U30329.1 U35632.1 X99894.1 

    2 DOTS entries:

    DT.97763786  DT.97835837 

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

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

    GeneLoc Exon Structure


    Expression
    for PDX1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PDX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/26 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 26) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic BudPancreatic Progenitor CellsPancreas
    PancreasIslets of LangerhansDelta CellsPancreas
    PancreasIslets of LangerhansMature Beta CellsPancreas
    PancreasPrepancreatic Dorsal Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    PancreasPrepancreatic Ventral Foregut EndodermPre-Pancreatic Foregut Endoderm CellsPancreas
    PancreasVentral Pancreatic BudPancreatic Progenitor CellsPancreas
    PancreasDorsal Pancreatic BudAlpha Progenitor CellsPancreas
    PancreasIslets of LangerhansAlpha CellsPancreas
    PancreasVentral Pancreatic BudAlpha Progenitor CellsPancreas
    Gut TubeDorsal Foregut EndodermDorsal Foregut Endoderm CellsEndoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/24 LifeMap Cells (see all 24) 
    NameCategory
    Activin A-induced embryoid bodies (Mouse embryonic stem...)
    Anterior foregut progenitor cells (Directed differentia...)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Posterior foregut-like cells (A scalable, suspensi...)
    Pancreatic progenitor-like cells (A two-step protocol ...)
    Indolactam V-induced cells (Derivation of pancre...)
    Endoderm-like cells (Derivation of pancre...)
    Posterior foregut endoderm-like cells (Generation of beta c...)
    Pancreatic endoderm-like cells (Generation of beta c...)
    beta-like cells (Generation of beta c...)

    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

    Primer
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    Orthologs
    for PDX1 gene

    (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 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343306.1(1494254-1523981)
    zebrafish
    (Danio rerio)    		 Actinopterygii ipf12 insulin promoter factor 1, homeodomain transcription more 76.49(n)   30721  AF036325.1 
    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
    for PDX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDX1 gene
    GSX12  HOXA72  HOXA12  HOXD12  HOXA22  HOXB32  HOXC62  HOXB52  
    GSX22  HOXC52  HOXB42  HOXA52  HOXA42  HOXD32  HOXC82  HOXA62  
    HOXA32  HOXD82  HOXB12  HOXB62  HOXB82  HOXD42  HOXB22  HOXB72  
    HOXC42  
    3 SIMAP similar genes for PDX1 using alignment to 1 protein entry:     PDX1_HUMAN:
    HOXC6    HOXB4    HOXD4

    PDX1 for paralogs           About GeneDecksing



    Genomic Variants
    for PDX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/164 NCBI SNPs in PDX1 are shown (see all 164)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803566621,2
    		Cpathogenic15143893(+) GGGTGA/GAGCTG 2 K E mis10--------
    rs803566611,2
    		Cpathogenic15143933(+) AAGGAG/TTTCCT 2 E D mis10--------
    rs754989351,2
    		C,F,probable-non-pathogenic15143882(+) GCTGTC/TATGTT 2 V syn11Minor allele frequency- T:0.00NA 4544
    rs285094411,2
    		C,probable-non-pathogenic15147974(+) GCCCTA/GGGCGC 2 L syn1 ese30--------
    rs1929020981,2
    		C,unknown15148039(+) GCCCCA/CCTGCG 2 T P mis10--------
    rs1939223511,2
    		C,unknown15148153(+) GTGCCC/TAATCC 1 -- ut510--------
    rs1378527831,2
    		Cother15147910(+) CCGACA/GACCCC 2 N D mis10--------
    rs79937241,2
    		C,F,H,--9313368(+) GAGAGT/CGAGTG 1 -- us2k17Minor allele frequency- C:0.04NS EA NA WA 540
    rs40028271,2
    		C,F,--9313376(+) GTGTTC/TTCTGC 1 -- us2k12Minor allele frequency- T:0.03WA NA 238
    rs1131941281,2
    		--9316349(+) TGAGGC/TGGAGT 1 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for PDX1 (28494157 - 28500451 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PDX1: --
    Human Gene Mutation Database (HGMD): PDX1

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    Disorders / Diseases
    for PDX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PDX1 for disorders           About GeneDecksing

    OMIM gene information: 600733   
    OMIM disorders: 260370  606392  125853  
    UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945
  • Defects in PDX1 are a cause of congenital pancreatic agenesis (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
  • Defects in PDX1 are a cause of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as
    • diabetes mellitus type 2. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood
    and insulin resistance
  • Defects in PDX1 are the cause of maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]; also
    • symbolized MODY-4. MODY is 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

    20/50 diseases for PDX1 (see all 50):    About MalaCards
    maturity-onset diabetes of the young, type 4    maturity-onset diabetes of the young    diabetes mellitus    pancreatitis
    pancreatic agenesis    duodenitis    persistent hyperinsulinemic hypoglycemia of infancy    permanent neonatal diabetes mellitus
    neonatal diabetes mellitus    hyperinsulinemic hypoglycemia    glucose intolerance    hypoglycemia of infancy
    type 2 diabetes mellitus    multiple endocrine neoplasia    glucagonoma    hypoglycemia
    gastrinoma    myocardial infarction    pancreatic gastrinoma    pancreatic endocrine tumors

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

    10/24 Novoseek 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
    Permanent Neonatal Diabetes Mellitus

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

    Export disorders for PDX1 gene to outside databases

    Publications
    for PDX1 gene

    (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 421):
    (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. 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)
    7. Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes? (PubMed id 15277425)1, 4 Elbein S.C. and Karim M.A. (2004)
    8. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. (PubMed id 8988180)1, 2 Stoffers D.A....Habener J.F. (1997)
    9. Increased PDX-1 expression is associated with outcome in patients with pancreatic cancer. (PubMed id 12947327)1, 9 Koizumi M....Imamura M. (2003)
    10. Pancreatic duodenal homeobox-1 (PDX1) functions as a tumor suppressor in gastric cancer. (PubMed id 18477649)1, 9 Ma J....Wong B.C. (2008)

    External Searches for PDX1 gene

    (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)

    Genome Databases showing PDX1 gene

    (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

    Other Databases showing PDX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDX1 gene

    (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
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDX1

    Intellectual Property
    for PDX1 gene

    (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



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