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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
1
Cytoband
q23.3
Chromosome location (bp)
161039251 - 161045977
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 a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]...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 Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000430[regulation of transcription from RNA polymerase II promoter by glucose] GO:0000432[positive regulation of transcription from RNA polymerase II promoter by glucose] 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:0001666[response to hypoxia] GO:0003677[DNA binding] 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:0009411[response to UV] GO:0019086[late viral transcription] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0032869[cellular response to insulin stimulus] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042826[histone deacetylase binding] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0044877[protein-containing complex binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045990[carbon catabolite regulation of transcription] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0051918[negative regulation of fibrinolysis] GO:0055088[lipid homeostasis] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Basic domains Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000430[regulation of transcription from RNA polymerase II promoter by glucose] GO:0000432[positive regulation of transcription from RNA polymerase II promoter by glucose] 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:0001666[response to hypoxia] 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:0009411[response to UV] GO:0019086[late viral transcription] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0032869[cellular response to insulin stimulus] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042826[histone deacetylase binding] GO:0043425[bHLH transcription factor binding] 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:0045990[carbon catabolite regulation of transcription] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0051918[negative regulation of fibrinolysis] GO:0055088[lipid homeostasis] 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 lipid/glycolipid metabolism 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 lipid/glycolipid metabolism 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 lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
