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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
13
Cytoband
q12.2
Chromosome location (bp)
27920000 - 27926313
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from 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 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P52945 [Direct mapping] Pancreas/duodenum homeobox protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Digestive system diseases Pancreas diseases Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001889[liver development] GO:0003309[type B pancreatic cell differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006006[glucose metabolic process] GO:0006091[generation of precursor metabolites and energy] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007263[nitric oxide mediated signal transduction] GO:0007417[central nervous system development] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0009611[response to wounding] GO:0009749[response to glucose] GO:0009887[animal organ morphogenesis] GO:0010040[response to iron(II) ion] GO:0010157[response to chlorate] GO:0010468[regulation of gene expression] GO:0010942[positive regulation of cell death] GO:0014070[response to organic cyclic compound] GO:0016331[morphogenesis of embryonic epithelium] GO:0016607[nuclear speck] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0031016[pancreas development] GO:0031017[exocrine pancreas development] GO:0031018[endocrine pancreas development] GO:0031100[animal 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:0035774[positive regulation of insulin secretion involved in cellular response to glucose stimulus] GO:0035883[enteroendocrine cell differentiation] GO:0042127[regulation of cell population proliferation] GO:0042593[glucose homeostasis] GO:0043201[response to leucine] GO:0043279[response to alkaloid] GO:0043388[positive regulation of DNA binding] GO:0043565[sequence-specific DNA binding] GO:0044342[type B pancreatic cell proliferation] GO:0044877[protein-containing complex binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048565[digestive tract development] GO:0048863[stem cell differentiation] GO:0050673[epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051384[response to glucocorticoid] GO:0051594[detection of glucose] GO:0060290[transdifferentiation] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070542[response to fatty acid] GO:0097050[type B pancreatic cell apoptotic process] GO:1902236[negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:1904692[positive regulation of type B pancreatic cell proliferation] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding] GO:2000675[negative regulation of type B pancreatic cell apoptotic process]
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