• Gene id: 3651

Gene Summary

• Gene Symbol: PDX1   Gene   UCSC   Ensembl
• Aliases: GSF, IDX-1, IPF1, IUF1, MODY4, PAGEN1, PDX-1, STF-1
• Gene name: pancreatic and duodenal homeobox 1
• Alternate names: pancreas/duodenum homeobox protein 1, IPF-1, IUF-1, glucose-sensitive factor, insulin promoter factor 1, homeodomain transcription factor, insulin upstream factor 1, islet/duodenum homeobox-1, pancreatic-duodenal homeobox factor 1, somatostatin transcription fact,
• Gene location: 13q12.2 (27919981: 27926312)     Exons: 2     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 600733

Protein Summary

• Protein general information: P52945  
  • Name: Pancreas/duodenum homeobox protein 1 (PDX 1) (Glucose sensitive factor) (GSF) (Insulin promoter factor 1) (IPF 1) (Insulin upstream factor 1) (IUF 1) (Islet/duodenum homeobox 1) (IDX 1) (Somatostatin transactivating factor 1) (STF 1)
  • Length: 283  
  • Mass: 30771
  • Tissue specificity: Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).
• Sequence:

  MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQGSPPDISPYEVPPLAD
  DPAVAHLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYAAEPEENKRTR
  TAYTRAQLLELEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAEPEQ
  DCAVTSGEELLALPPPPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQEPR

• Structural information:
  • Interpro: IPR009057  IPR017995  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 6F8F
  • PDBsum: 6F8F
  • STRING: ENSP00000370421
• Other Databases: GeneCards:  PDX1  Malacards:  PDX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003309	type B pancreatic cell differentiation	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0003309	type B pancreatic cell differentiation	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0031018	endocrine pancreas development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0070542	response to fatty acid	IEA	biological process
GO:0060290	transdifferentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043201	response to leucine	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010260	animal organ senescence	IEA	biological process
GO:0010157	response to chlorate	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0031017	exocrine pancreas development	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0051594	detection of glucose	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0043279	response to alkaloid	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0033993	response to lipid	IEA	biological process
GO:0033273	response to vitamin	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010040	response to iron(II) ion	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003309	type B pancreatic cell differentiation	IEA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016331	morphogenesis of embryonic epithelium	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003309	type B pancreatic cell differentiation	IDA	biological process
GO:0030073	insulin secretion	IDA	biological process
GO:0003309	type B pancreatic cell differentiation	ISS	biological process
GO:0051594	detection of glucose	ISS	biological process
GO:0007263	nitric oxide mediated signal transduction	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04911	Insulin secretion
hsa04930	Type II diabetes mellitus
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Permanent neonatal diabetes mellitus	KEGG:H00512
Pancreatic agenesis	KEGG:H00861
Maturity onset diabetes of the young	KEGG:H00410
Permanent neonatal diabetes mellitus	KEGG:H00512
Pancreatic agenesis	KEGG:H00861
Cerebral infarction	PMID:18506375
Hyperglycemia	PMID:17131142
type 2 diabetes mellitus	PMID:15734849
type 2 diabetes mellitus	PMID:10545531
obesity	PMID:15979049
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)