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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 Nuclear receptors 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
20
Cytoband
q13.12
Chromosome location (bp)
44355699 - 44432845
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes 1. Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Receptor, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]...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.
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006591[ornithine metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0019216[regulation of lipid metabolic process] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] 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:0006591[ornithine metabolic process] GO:0006629[lipid metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007548[sex differentiation] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0010470[regulation of gastrulation] GO:0019216[regulation of lipid metabolic process] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006591[ornithine metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0019216[regulation of lipid metabolic process] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0060398[regulation of growth hormone receptor signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006591[ornithine metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0019216[regulation of lipid metabolic process] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006591[ornithine metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0019216[regulation of lipid metabolic process] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0060398[regulation of growth hormone receptor signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003323[type B pancreatic cell development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003707[nuclear steroid receptor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005504[fatty acid binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006591[ornithine metabolic process] GO:0006805[xenobiotic metabolic process] GO:0007596[blood coagulation] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009749[response to glucose] GO:0019216[regulation of lipid metabolic process] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030522[intracellular receptor signaling pathway] GO:0042593[glucose homeostasis] GO:0042632[cholesterol homeostasis] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA 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:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0048856[anatomical structure development] GO:0050796[regulation of insulin secretion] GO:0055088[lipid homeostasis] GO:0055091[phospholipid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0070365[hepatocyte differentiation] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
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