InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDX1

Summary

InnateDB Protein

IDBP-19680.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDX1

Protein Name

pancreatic and duodenal homeobox 1

Synonyms

GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1; PDX-1; STF-1;

Species

Homo sapiens

Ensembl Protein

ENSP00000370421

InnateDB Gene

IDBG-19678 (PDX1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus. Cytoplasm, cytosol {ECO:0000250}.

Disease Associations

Pancreatic agenesis, congenital (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. {ECO:0000269PubMed: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:0000269PubMed:10545530, ECO:0000269PubMed:10545531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001046	core promoter sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0032403	protein complex binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001889	liver development
GO:0003309	type B pancreatic cell differentiation
GO:0006006	glucose metabolic process
GO:0006091	generation of precursor metabolites and energy
GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0007224	smoothened signaling pathway
GO:0007263	nitric oxide mediated signal transduction
GO:0007417	central nervous system development
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0009611	response to wounding
GO:0009749	response to glucose
GO:0009887	organ morphogenesis
GO:0010040	response to iron(II) ion
GO:0010157	response to chlorate
GO:0010260	organ senescence
GO:0010942	positive regulation of cell death
GO:0014070	response to organic cyclic compound
GO:0016331	morphogenesis of embryonic epithelium
GO:0030073	insulin secretion
GO:0030154	cell differentiation
GO:0031016	pancreas development
GO:0031017	exocrine pancreas development
GO:0031018	endocrine pancreas development
GO:0031100	organ regeneration
GO:0031667	response to nutrient levels
GO:0032024	positive regulation of insulin secretion
GO:0033273	response to vitamin
GO:0033993	response to lipid
GO:0034097	response to cytokine
GO:0035094	response to nicotine
GO:0042127	regulation of cell proliferation
GO:0042493	response to drug
GO:0042593	glucose homeostasis
GO:0043201	response to leucine
GO:0043279	response to alkaloid
GO:0043388	positive regulation of DNA binding
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048565	digestive tract development
GO:0048863	stem cell differentiation
GO:0051384	response to glucocorticoid
GO:0051594	detection of glucose
GO:0060290	transdifferentiation
GO:0070542	response to fatty acid
GO:1902236	negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:2000675	negative regulation of type B pancreatic cell apoptotic process