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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
17
Cytoband
q12
Chromosome location (bp)
37686431 - 37745059
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' 1,2. Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, 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
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001221[transcription coregulator binding] GO:0001714[endodermal cell fate specification] GO:0001822[kidney development] GO:0001826[inner cell mass cell differentiation] GO:0001889[liver development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0007219[Notch signaling pathway] GO:0007492[endoderm development] GO:0009410[response to xenobiotic stimulus] GO:0009743[response to carbohydrate] GO:0009749[response to glucose] GO:0009952[anterior/posterior pattern specification] GO:0010628[positive regulation of gene expression] GO:0014070[response to organic cyclic compound] GO:0030073[insulin secretion] GO:0030111[regulation of Wnt signaling pathway] GO:0030902[hindbrain development] GO:0031016[pancreas development] GO:0031018[endocrine pancreas development] GO:0032922[circadian regulation of gene expression] GO:0035565[regulation of pronephros size] GO:0039020[pronephric nephron tubule development] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043565[sequence-specific DNA binding] GO:0044877[protein-containing complex binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048557[embryonic digestive tract morphogenesis] GO:0048598[embryonic morphogenesis] GO:0048754[branching morphogenesis of an epithelial tube] GO:0048793[pronephros development] GO:0048806[genitalia development] GO:0050673[epithelial cell proliferation] GO:0060261[positive regulation of transcription initiation by RNA polymerase II] GO:0060429[epithelium development] GO:0060677[ureteric bud elongation] GO:0060993[kidney morphogenesis] GO:0061017[hepatoblast differentiation] GO:0061296[negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis] GO:0065004[protein-DNA complex assembly] GO:0070365[hepatocyte differentiation] GO:0072095[regulation of branch elongation involved in ureteric bud branching] GO:0072164[mesonephric tubule development] GO:0072176[nephric duct development] GO:0072177[mesonephric duct development] GO:0072179[nephric duct formation] GO:0072181[mesonephric duct formation] GO:1900200[mesenchymal cell apoptotic process involved in metanephros development] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Endocrine and metabolic diseases Diabetes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
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:0001822[kidney development] GO:0001889[liver development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030073[insulin secretion] GO:0031016[pancreas development] GO:0035565[regulation of pronephros size] GO:0039020[pronephric nephron tubule development] GO:0043231[intracellular membrane-bounded organelle] GO:0045893[positive regulation of DNA-templated transcription] GO:0048793[pronephros development] GO:0060261[positive regulation of transcription initiation by RNA polymerase II]
The Human Protein Atlas project is funded
