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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 Plasma proteins 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
7
Cytoband
q11.23
Chromosome location (bp)
73593194 - 73624543
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Binds DNA as a heterodimer with MLX/TCFL4 and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation (By similarity). Regulates transcription in response to changes in cellular carbohydrate abundance such as occurs during fasting to feeding metabolic transition. Refeeding stimulates MLXIPL/ChREBP transcription factor, leading to increased BCKDK to PPM1K expression ratio, phosphorylation and activation of ACLY that ultimately results in the generation of malonyl-CoA and oxaloacetate immediate substrates of de novo lipogenesis and gluconeogenesis, respectively (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Repressor
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 basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]...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.
Q9NP71 [Direct mapping] Carbohydrate-responsive element-binding protein
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Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008284[positive regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010255[glucose mediated signaling pathway] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035538[carbohydrate response element binding] GO:0042593[glucose homeostasis] GO:0045723[positive regulation of fatty acid biosynthetic process] GO:0045821[positive regulation of glycolytic process] 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:0046889[positive regulation of lipid biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0055089[fatty acid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0090324[negative regulation of oxidative phosphorylation] GO:0097009[energy homeostasis]
Q9NP71 [Direct mapping] Carbohydrate-responsive element-binding protein
Show all
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008284[positive regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010255[glucose mediated signaling pathway] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035538[carbohydrate response element binding] GO:0042593[glucose homeostasis] GO:0045723[positive regulation of fatty acid biosynthetic process] GO:0045821[positive regulation of glycolytic process] 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:0046889[positive regulation of lipid biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0055089[fatty acid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0090324[negative regulation of oxidative phosphorylation] GO:0097009[energy homeostasis]
Q9NP71 [Direct mapping] Carbohydrate-responsive element-binding protein
Show all
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008284[positive regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010255[glucose mediated signaling pathway] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035538[carbohydrate response element binding] GO:0042593[glucose homeostasis] GO:0045723[positive regulation of fatty acid biosynthetic process] GO:0045821[positive regulation of glycolytic process] 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:0046889[positive regulation of lipid biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0055089[fatty acid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0090324[negative regulation of oxidative phosphorylation] GO:0097009[energy homeostasis]
Q9NP71 [Direct mapping] Carbohydrate-responsive element-binding protein
Show all
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Other congenital disorders Chromosomal abnormalities 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008284[positive regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010255[glucose mediated signaling pathway] GO:0033137[negative regulation of peptidyl-serine phosphorylation] GO:0035538[carbohydrate response element binding] GO:0042593[glucose homeostasis] GO:0045723[positive regulation of fatty acid biosynthetic process] GO:0045821[positive regulation of glycolytic process] 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:0046889[positive regulation of lipid biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0055089[fatty acid homeostasis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070328[triglyceride homeostasis] GO:0090324[negative regulation of oxidative phosphorylation] GO:0097009[energy homeostasis]
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
C9JDF5 [Direct mapping] Carbohydrate-responsive element-binding protein
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Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
H7C1V3 [Direct mapping] Carbohydrate-responsive element-binding protein
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Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
