PDX1 Gene (Protein Coding)

Pancreatic And Duodenal Homeobox 1

GC13P027921
GIFtS:
48
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 ca... See more...

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
  • Pancreas/Duodenum Homeobox Protein 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
  • IDX-1 3 4
  • IPF-1 3 4
  • IUF-1 3 4
  • PDX-1 3 4
  • STF-1 3 4
  • IPF1 3 4
  • GSF 3 4
  • Pancreatic-Duodenal Homeobox Factor 1 3
  • Insulin Promoter Factor 1 4
  • PAGEN1 3
  • MODY4 3
  • IUF1 3
  • STF1 4

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 (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

GeneCards Summary for PDX1 Gene

PDX1 (Pancreatic And Duodenal Homeobox 1) is a Protein Coding gene. Diseases associated with PDX1 include Maturity-Onset Diabetes Of The Young, Type 4 and Pancreatic Agenesis 1. Among its related pathways are Developmental Biology and Type II diabetes mellitus. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HOXB3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PDX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDX1 Gene

Genomics for PDX1 Gene

GeneHancer (GH) Regulatory Elements for PDX1 Gene

Promoters and enhancers for PDX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH13J027919 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 750.6 +1.5 1506 3.8 ZBTB6 USF2 NFYC POLR2A GLIS2 RNF2 ZBTB8A PRDM10 PATZ1 ZNF501 PDX1 PLUT piR-60985-029
GH13J027917 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 777.3 -1.9 -1879 2.1 MLX IKZF1 IKZF2 GATAD2A POLR2A SOX13 ZSCAN29 EZH2 RUNX3 BMI1 PDX1 PLUT piR-31292-040
GH13J027958 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 +50.5 50543 23.4 CTCF ZBTB6 FOXA1 MLX RBPJ NR2F1 NR2F6 MIXL1 MYC HLF CDX2 URAD SNORA27 PAN3 PLUT PDX1 GSX1 RN7SL272P POLR1D LNX2
GH13J027952 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 +35.5 35475 6 CTCF GATA3 TCF7L2 ZNF217 MYC MAX RAD21 POLR2A NKRF SP1 LINC00543 lnc-CDX2-1 CDX2 PLUT PDX1 GSX1 URAD lnc-CDX2-3
GH13J027984 Enhancer 0.8 ENCODE dbSUPER 12.4 +64.4 64445 0.2 CTCF MIXL1 RAD21 BCL6B PRDM1 CEBPA PRDM10 TRIM22 ZNF143 SMC3 PDX1 PLUT GSX1 LOC105370132 URAD HSALNG0095985
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDX1 gene promoter:
  • AP-4
  • E47
  • Egr-1
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • p300
  • RORalpha1

Genomic Locations for PDX1 Gene

Genomic Locations for PDX1 Gene
chr13:27,919,994-27,926,314
(GRCh38/hg38)
Size:
6,321 bases
Orientation:
Plus strand
chr13:28,494,157-28,500,451
(GRCh37/hg19)
Size:
6,295 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 Structure • Gene Density

RefSeq DNA sequence for PDX1 Gene

Proteins for PDX1 Gene

Products:

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  • 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.

    Three dimensional structures from OCA and Proteopedia for PDX1 Gene

neXtProt entry for PDX1 Gene

Protein Expression for PDX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 phosphorylation 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:

Antibody Products

  • Abcam antibodies for PDX1
  • Boster Bio Antibodies for PDX1

No data available for DME Specific Peptides for PDX1 Gene

Domains & Families for PDX1 Gene

Gene Families for PDX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PDX1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDX1 Gene

GenScript: Design optimal peptide antigens:
  • Somatostatin-transactivating factor 1 (PDX1_HUMAN)

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).
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

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Molecular function for PDX1 Gene

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.
GENATLAS Biochemistry:
lipoyl-containing protein (protein X),subunit of the pyruvate dehydrogenase complex,tightly associated with E2 and binding E3 subunit

Phenotypes From GWAS Catalog for PDX1 Gene

Gene Ontology (GO) - Molecular Function for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IEA 19274049
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 17941991
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

CRISPR Products

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

Clone Products

  • Addgene plasmids for PDX1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDX1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with PDX1: view

Pathways & Interactions for PDX1 Gene

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

SIGNOR curated interactions for PDX1 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PDX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001889 liver development IEA --
GO:0003309 type B pancreatic cell differentiation ISS,IBA --
GO:0006006 glucose metabolic process IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8954967
genes like me logo Genes that share ontologies with PDX1: view

Drugs & Compounds for PDX1 Gene

Products:

  1. Drug

(17) Drugs for PDX1 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 108
BRD 7552 Pharma Inducer of PDX1 transcription factor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PDX1 Gene

Compound Action Cas Number
BRD 7552 Inducer of PDX1 transcription factor 1137359-47-7
genes like me logo Genes that share compounds with PDX1: view

Transcripts for PDX1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PDX1 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for PDX1

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDX1 Gene

mRNA expression in normal human tissues for PDX1 Gene
mRNA expression by BioGPS for PDX1 GenemRNA expression by GTEx 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 and MOPED for PDX1 Gene



Protein tissue co-expression partners for PDX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDX1 Gene:

PDX1

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).

Evidence on tissue expression from TISSUES for PDX1 Gene

  • Pancreas(4.8)
  • Intestine(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • skull
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PDX1: view

Orthologs for PDX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PDX1 33 32
  • 99.65 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PDX1 33 32
  • 89.05 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PDX1 33 32
  • 87.23 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pdx1 17 33 32
  • 83.51 (n)
rat
(Rattus norvegicus)
 Mammalia Pdx1 32
  • 82.45 (n)
oppossum
(Monodelphis domestica)
 Mammalia PDX1 33
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PDX1 33
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PDX1 33 32
  • 79.09 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PDX1 33
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pdx1 32
  • 68.91 (n)
zebrafish
(Danio rerio)
 Actinopterygii pdx1 33 32
  • 66.51 (n)
 OneToOne
ipf1 32
worm
(Caenorhabditis elegans)
 Secernentea C30H6.7 34
  • 38 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 27 (a)
 OneToOne
Species where no ortholog for PDX1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PDX1: view image

Paralogs for PDX1 Gene

Paralogs for PDX1 Gene

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

  • PDX1_HUMAN
genes like me logo Genes that share paralogs with PDX1: view

Variants for PDX1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PDX1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs137852783 uncertain-significance, not-provided, benign-likely-benign, likely-benign, likely-pathogenic, Diabetes mellitus type 2, Maturity-onset diabetes of the young, type 4, not specified, Monogenic diabetes, Maturity onset diabetes mellitus in young, - 27,920,364(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137852784 risk-factor, Diabetes mellitus type 2, - 27,920,314(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137852785 risk-factor, likely-pathogenic, Diabetes mellitus type 2, not provided, - 27,920,190(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137852786 risk-factor, Diabetes mellitus type 2, - 27,924,439(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs137852787 uncertain-significance, benign, Maturity-onset diabetes of the young, type 4, Monogenic diabetes, not provided 27,924,519(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PDX1 Gene

Variant ID Type Subtype PubMed ID
dgv538e212 CNV gain 25503493

Variation tolerance for PDX1 Gene

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

Additional Variant Information for PDX1 Gene

Human Gene Mutation Database (HGMD)
PDX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDX1 Gene

Disorders for PDX1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for PDX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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.
  • 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. {ECO:0000269 PubMed:9326926}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDX1

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

No data available for Genatlas for PDX1 Gene

Publications for PDX1 Gene

  1. Role of a proline insertion in the insulin promoter factor 1 (IPF1) gene in African Americans with type 2 diabetes. (PMID: 17003361) Elbein SC … Kao WH (Diabetes 2006) 3 23 43 56
  2. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (PMID: 10545530) Macfarlane WM … Hattersley AT (The Journal of clinical investigation 1999) 3 4 23 56
  3. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. (PMID: 10545531) Hani EH … Froguel P (The Journal of clinical investigation 1999) 3 4 23 56
  4. 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. (PMID: 9252422) Macfarlane WM … Docherty K (The Journal of biological chemistry 1997) 3 4 23 56
  5. Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene. (PMID: 8635654) Inoue H … Permutt MA (Diabetes 1996) 3 4 23 56

ExternalLinks

View latest publications for PDX1 gene in Mastermind

Products for PDX1 Gene

  • Addgene plasmids for PDX1

Sources for PDX1 Gene