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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
- IDX-1 2 3 4
- PDX-1 2 3 4
- STF-1 2 3 4
- 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
External Ids for PDX1 Gene
- HGNC: 6107
- Entrez Gene: 3651
- Ensembl: ENSG00000139515
- OMIM: 600733
- UniProtKB: P52945
Previous HGNC Symbols for PDX1 Gene
- IPF1
Previous GeneCards Identifiers for PDX1 Gene
- GC11P036490
- GC11P035616
- GC13P027393
- GC13P028494
- GC13P009314
Summaries 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 Pancreatic Agenesis 1 and Maturity-Onset Diabetes Of The Young, Type 4. Among its related pathways are Regulation of beta-cell development and Hepatic ABC Transporters. 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 HOXB2.
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.
Additional gene information for PDX1 Gene
- HGNC(6107)
- Entrez Gene(3651)
- Ensembl(ENSG00000139515)
- OMIM(600733)
- UniProtKB(P52945)
- Open Targets Platform(ENSG00000139515)
- Monarch Initiative
- Search for PDX1 at DataMed
- Search for PDX1 at HumanCyc
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 Pubs
Promoters and enhancers for PDX1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDX1
- 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
- chr13:27,919,982-27,926,313
- (GRCh38/hg38)
- Size:
- 6,332 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:
-
- 13q12.2 by HGNC
- 13q12.2 by Entrez Gene
- 13q12.2 by Ensembl
PDX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for PDX1 Gene
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
- G Biosciences Immunotag™ PDX1 Antibody
- GeneTex Anti-PDX1 antibody and Anti-PDX1 antibody [2A12]
-
Custom Antibody ServicesOriGene Antibodies for PDX1
- AM06739PU-N
- AM06757PU-N
- AP13027PU-N
- AP14510PU-N
- CF500038
- CF500039
- CF807312
- CF807340
- CF807341
- CF807372
- CF807531
- TA321080
- TA321081
- TA324981
- TA327504
- TA335165
- TA336928
- TA345380
- TA354608
- TA500038
- TA500038S
- TA500039
- TA500039S
- TA807312
- TA807312S
- TA807340
- TA807340S
- TA807341
- TA807341S
- TA807372
- TA807372S
- TA807531
- TA807531S
- Novus Biologicals Antibodies for PDX1
-
Abcam antibodies for PDX1
- Invitrogen Antibodies for PDX1 (AFLGC-PDX1)
- antibodies-online: Show 82 available PDX1 Antibodies ranked by validation data
- Compare Top PDX1 Antibodies
-
Recommended
- 157 WB Antibodies (anti-human)
- 12 IF (cc) Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 4 DB Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 54 WB Antibodies (anti-mouse)
- 12 IF (cc) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 12 IF (cc) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PDX1
- Sino Biological Antibodies for PDX1
Protein Products
- RayBiotech Recombinant Human PDX-1
- Search Origene for MassSpec and Protein Over-expression Lysates for PDX1
- Origene Custom Protein Services for PDX1
-
Signalway Proteins for PDX1
-
Abcam proteins 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
- InterPro:
- Blocks:
-
- Lambda and other repressor helix-turn-helix signature
- Homeobox protein, antennapedia type
- 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
P52945UniProtKB/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.
Function for PDX1 Gene
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
| 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 | IEA,ISM | 19274049 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | TAS | 17941991 |
Phenotypes for PDX1 Gene
- MGI mutant phenotypes for PDX1:
-
inferred from 12 alleles
- immune system phenotype
- normal phenotype
- cellular phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- skeleton phenotype
- integument phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for PDX1:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- shRNA abundance <= 25%
- Increased Nanog expression
- Increased transferrin (TF) endocytosis
- Decreased viability after Maraba virus infection
- Increased caspase activity
- Decreased viability with paclitaxel
Animal Models for PDX1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PDX1 - Select products 50% OFF >
- * PDX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PDX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDX1
Targeted motifs for PDX1 Gene
HOMER Transcription Factor Regulatory Elements motif PDX1
- Consensus sequence: TCATCAATCA Submotif: canonical Cell Type: Islet GEO ID: SRA008281
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDX1
- Browse OriGene Inhibitory RNA Products For PDX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1
Clone Products
- Applied Biological Materials (abm): Clones for PDX1 - Select products 50% OFF >
- * PDX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PDX1
- Addgene plasmids for PDX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDX1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
Pathways & Interactions for PDX1 Gene
Pathways by source for PDX1 Gene
2 BioSystems pathways for PDX1 Gene
4 Reactome pathways for PDX1 Gene
1 PharmGKB pathway for PDX1 Gene
3 KEGG pathways for PDX1 Gene
1 R&D Systems pathway for PDX1 Gene
1 Qiagen pathway for PDX1 Gene
- MODY (Maturity-Onset Diabetes of Young)
1 Cell Signaling Technology pathway for PDX1 Gene
Interacting Proteins for PDX1 Gene
GPS-Prot Interaction Network for PDX1
SIGNOR curated interactions 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 | IBA,ISS | -- |
| GO:0006006 | glucose metabolic process | IEA | -- |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 8954967 |
Drugs & Compounds for PDX1 Gene
| 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 |
Transcripts for PDX1 Gene
mRNA/cDNA for PDX1 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000381033 2603 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PDX1 - Select products 50% OFF >
- * PDX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PDX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDX1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDX1
- Browse OriGene Inhibitory RNA Products For PDX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDX1
Clone Products
- Applied Biological Materials (abm): Clones for PDX1 - Select products 50% OFF >
- * PDX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PDX1
- Addgene plasmids for PDX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDX1
Relevant External Links for PDX1 Gene
- GeneLoc Exon Structure for
- PDX1
Expression for PDX1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Immature Beta Progenitor Cells Dorsal Pancreatic Bud
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
-
Epithelial Cells
- Acinar Progenitor Cells Dorsal Pancreatic Bud
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- G-cells Islets of Langerhans
- NULL (Uncategorized)
-
Gut Tube (Gastrointestinal Tract)
- Prepancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
- Prepancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
- Midgut Endoderm Cells Midgut
- Anterior foregut progenitor cells(Wong AP et. al. 2012)
- Endoderm (Gastrulation Derivatives)
- Blood (Hematopoietic System)
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDX1
SOURCE GeneReport for Unigene cluster for PDX1 Gene:
Hs.32938mRNA 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(2.9)
- Liver(2.2)
- Blood(2.2)
- Stomach(2.2)
- Gall bladder(2.2)
- Skin(2.1)
- Nervous system(2)
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
Primer Products
-
OriGene qPCR primer pairs for PDX1
-
OriGene qPCR primer pairs and template standards for PDX1
Gene Expression Assay Products
Orthologs for PDX1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pdx1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pdx1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PDX1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PDX1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PDX1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PDX1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdx1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pdx1 30 31 |
|
OneToOne | |
| ipf1 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | C30H6.7 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for PDX1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- HOXB2 5
- HOXA3 5
- HOXB3 5
- HOXA2 5
- HOXD3 5
- HOXA1 5
- HOXB4 5
- HOXC9 5
- HOXA4 5
- HOXD9 5
- HOXC4 5
- HOXA5 5
- HOXA7 5
- HOXD4 5
- HOXB5 5
- HOXB7 5
- HOXA6 5
- TLX2 5
- HOXD10 5
- HOXB6 5
- HOXB8 5
- HOXB9 5
- HOXC8 5
- HOXC10 5
- TLX1 5
- HOXA10 5
- HOXD11 5
- HOXD8 5
- HOXD1 5
- GSX2 5
- HOXB1 5
- HOXC5 5
- HOXC6 5
- TLX3 5
- HOXA11 5
- HOXA13 5
- HOXD13 5
- HOXC13 5
- HOXC11 5
- HOXD12 5
- HOXB13 5
- HOXC12 5
- ENSG00000273049 5
Variants for PDX1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDX1 Gene
| SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 668654 | Likely Benign: not provided | 27,924,697(+) | G/A | MISSENSE_VARIANT | |
| 669733 | Benign: not provided | 27,919,860(+) | G/A | ||
| 669787 | Benign: not provided | 27,923,965(+) | G/A | INTRON_VARIANT | |
| 673552 | Benign: not provided | 27,924,186(+) | G/C | INTRON_VARIANT | |
| 673553 | Benign: not provided | 27,924,188(+) | G/T | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv538e212 | CNV | gain | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDX1 Gene
Disorders for PDX1 Gene
(38) MalaCards diseases for PDX1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pancreatic agenesis 1 |
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| maturity-onset diabetes of the young, type 4 |
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| diabetes mellitus, permanent neonatal 1 |
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| pancreas, dorsal, agenesis of |
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| maturity-onset diabetes of the young |
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|
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
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No data available for Genatlas for PDX1 Gene
Publications for PDX1 Gene
- Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. (PMID: 18811724) Plengvidhya N … Yenchitsomanus PT (Clinical endocrinology 2009) 3 23 41
- A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (PMID: 19228875) Haaland WC … Metzker ML (Diabetes care 2009) 3 23 41
- 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 41
- Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PMID: 16873704) Yokoi N … Seino S (Diabetes 2006) 3 23 41
- Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II elongation during activation of insulin transcription. (PMID: 16141209) Francis J … Mirmira RG (The Journal of biological chemistry 2005) 3 4 23
ExternalLinks
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