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Aliases for PDX1 Gene

Aliases for PDX1 Gene

  • Pancreatic And Duodenal Homeobox 1 2 3 5
  • Insulin Promoter Factor 1, Homeodomain Transcription Factor 2 3
  • Somatostatin-Transactivating Factor 1 3 4
  • Somatostatin Transcription Factor 1 2 3
  • Insulin Upstream Factor 1 3 4
  • Islet/Duodenum Homeobox-1 3 4
  • Glucose-Sensitive Factor 3 4
  • STF-1 3 4
  • IDX-1 3 4
  • IPF-1 3 4
  • IUF-1 3 4
  • PDX-1 3 4
  • IPF1 3 4
  • GSF 3 4
  • Pancreatic-Duodenal Homeobox Factor 1 3
  • Insulin Promoter Factor 1 4
  • PAGEN1 3
  • MODY4 3
  • STF1 4
  • IUF1 3

External Ids for PDX1 Gene

Previous HGNC Symbols for PDX1 Gene

  • IPF1

Previous GeneCards Identifiers for PDX1 Gene

  • GC11P036490
  • GC11P035616
  • GC13P027393
  • GC13P028494
  • GC13P009314

Summaries for PDX1 Gene

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 Mody, Type Iv and Pancreatic Agenesis 1. Among its related pathways are Glucose / Energy Metabolism and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for PDX1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDX1 Gene

Genomics for PDX1 Gene

Regulatory Elements for PDX1 Gene

Enhancers for PDX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDX1 Gene

Chromosome:
13
Start:
27,919,994 bp from pter
End:
27,926,314 bp from pter
Size:
6,321 bases
Orientation:
Plus strand

Genomic View for PDX1 Gene

Genes around PDX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDX1 Gene

Proteins for PDX1 Gene

  • Protein details for PDX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52945-PDX1_HUMAN
    Recommended name:
    Pancreas/duodenum homeobox protein 1
    Protein Accession:
    P52945
    Secondary Accessions:
    • O60594
    • Q5VYW2

    Protein attributes for PDX1 Gene

    Size:
    283 amino acids
    Molecular mass:
    30771 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.

neXtProt entry for PDX1 Gene

Proteomics data for PDX1 Gene at MOPED

Post-translational modifications for PDX1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PDX1 Gene

Domains & Families for PDX1 Gene

Gene Families for PDX1 Gene

Suggested Antigen Peptide Sequences for PDX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52945

UniProtKB/Swiss-Prot:

PDX1_HUMAN :
  • The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.
  • Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.
Domain:
  • The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.
  • 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).
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.
genes like me logo Genes that share domains with PDX1: view

Function for PDX1 Gene

Molecular function for PDX1 Gene

GENATLAS Biochemistry:
lipoyl-containing protein (protein X),subunit of the pyruvate dehydrogenase complex,tightly associated with E2 and binding E3 subunit
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PDX1: view
genes like me logo Genes that share phenotypes with PDX1: view

Human Phenotype Ontology for PDX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDX1 Gene

MGI Knock Outs for PDX1:

Animal Model Products

Targeted motifs for PDX1 Gene
HOMER Transcription Factor Regulatory Elements motif PDX1
  • Consensus sequence: TCATCAATCA Submotif: canonical Cell Type: Islet GEO ID: SRA008281

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for PDX1 Gene

Localization for PDX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDX1 Gene

Nucleus. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDX1 Gene COMPARTMENTS Subcellular localization image for PDX1 gene
Compartment Confidence
nucleus 5
cytosol 4
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PDX1 Gene

Pathways & Interactions for PDX1 Gene

genes like me logo Genes that share pathways with PDX1: view

Gene Ontology (GO) - Biological Process for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001889 liver development IEA --
GO:0003309 type B pancreatic cell differentiation IEA,ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PDX1: view

No data available for SIGNOR curated interactions for PDX1 Gene

Drugs & Compounds for PDX1 Gene

(15) Drugs for PDX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for PDX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PDX1: view

Transcripts for PDX1 Gene

mRNA/cDNA for PDX1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PDX1 Gene

Pancreatic and duodenal homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDX1 Gene

No ASD Table

Relevant External Links for PDX1 Gene

GeneLoc Exon Structure for
PDX1
ECgene alternative splicing isoforms for
PDX1

Expression for PDX1 Gene

mRNA expression in normal human tissues for PDX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDX1 Gene

This gene is overexpressed in Pancreas (x40.4) and Small Intestine - Terminal Ileum (x4.8).

Protein differential expression in normal tissues from HIPED for PDX1 Gene

This gene is overexpressed in Pancreas (55.9) and Islet of Langerhans (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDX1 Gene



SOURCE GeneReport for Unigene cluster for PDX1 Gene Hs.32938

mRNA Expression by UniProt/SwissProt for PDX1 Gene

P52945-PDX1_HUMAN
Tissue specificity: Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).
genes like me logo Genes that share expression patterns with PDX1: view

Protein tissue co-expression partners for PDX1 Gene

- Elite partner

Primer Products

Orthologs for PDX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDX1 35
  • 89.05 (n)
  • 91.87 (a)
PDX1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDX1 35
  • 87.23 (n)
  • 92.2 (a)
PDX1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdx1 35
  • 83.51 (n)
  • 87.99 (a)
Pdx1 16
Pdx1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDX1 35
  • 99.65 (n)
  • 99.29 (a)
PDX1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdx1 35
  • 82.45 (n)
  • 87.63 (a)
oppossum
(Monodelphis domestica)
Mammalia PDX1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDX1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDX1 35
  • 79.09 (n)
  • 77.73 (a)
PDX1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDX1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdx1 35
  • 68.91 (n)
  • 69.06 (a)
zebrafish
(Danio rerio)
Actinopterygii ipf1 35
pdx1 35
  • 66.51 (n)
  • 62.15 (a)
pdx1 36
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C30H6.7 37
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for PDX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDX1 Gene

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

Paralogs for PDX1 Gene

(2) SIMAP similar genes for PDX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PDX1: view

Variants for PDX1 Gene

Sequence variations from dbSNP and Humsavar for PDX1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_009309 Maturity-onset diabetes of the young 4 (MODY4)
VAR_009310 Maturity-onset diabetes of the young 4 (MODY4)
VAR_009311 -
VAR_009312 Maturity-onset diabetes of the young 4 (MODY4)
rs4581569 -- 27,923,484(+) AAGTC(C/T)GGCTG intron-variant, nc-transcript-variant

Variation tolerance for PDX1 Gene

Gene Damage Index Score: 3.52; 55.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDX1 Gene

Human Gene Mutation Database (HGMD)
PDX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PDX1 Gene

Disorders for PDX1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PDX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mody, type iv
  • maturity-onset diabetes of the young, type 4
pancreatic agenesis 1
  • pagen1
pancreatic agenesis
  • partial pancreatic agenesis
agenesis of the dorsal pancreas
  • partial pancreatic agenesis
lacticacidemia due to pdx1 deficiency
  • lipoamide dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PDX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDX1_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys 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. {ECO:0000269 PubMed:10545530, ECO:0000269 PubMed:10545531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pancreatic agenesis 1 (PAGEN1) [MIM:260370]: A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency. {ECO:0000269 PubMed:8988180}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDX1

Genetic Association Database (GAD)
PDX1
Human Genome Epidemiology (HuGE) Navigator
PDX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDX1
genes like me logo Genes that share disorders with PDX1: view

No data available for Genatlas for PDX1 Gene

Publications for PDX1 Gene

  1. Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. (PMID: 7590740) Stoffel M. … Bell G.I. (Genomics 1995) 2 3 4 67
  2. Generation of homogeneous PDX1(+) pancreatic progenitors from human ES cell-derived endoderm cells. (PMID: 19910415) Cai J. … Deng H. (J Mol Cell Biol 2010) 3 23
  3. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. (PMID: 20009086) Nicolino M. … Julier C. (Diabetes 2010) 3 23
  4. The expression pattern of PDX-1, SHH, Patched and Gli-1 is associated with pathological and clinical features in human pancreatic cancer. (PMID: 19077462) Quint K. … Neureiter D. (Pancreatology 2009) 3 23
  5. An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. (PMID: 19515026) Odem J. … Bachrach B. (Pediatr Diabetes 2009) 3 23

Products for PDX1 Gene

Sources for PDX1 Gene

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