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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).
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
5
Cytoband
q33.3
Chromosome location (bp)
157625679 - 157671480
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts both as a transcriptional activator and a repressor 1,2. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif 3. Binds to its own promoter and activates its own transcription (By similarity). Required to activate the expression of postmeiotic genes involved in spermiogenesis (By similarity). Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling 4. Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4 5....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, 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 member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007286[spermatid development] GO:0008013[beta-catenin binding] GO:0010369[chromocenter] GO:0030178[negative regulation of Wnt signaling pathway] GO:0031960[response to corticosteroid] GO:0043231[intracellular membrane-bounded organelle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0120211[proacrosomal vesicle fusion] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains 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: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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007286[spermatid development] GO:0008013[beta-catenin binding] GO:0010369[chromocenter] GO:0030178[negative regulation of Wnt signaling pathway] GO:0031960[response to corticosteroid] GO:0043231[intracellular membrane-bounded organelle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0120211[proacrosomal vesicle fusion] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
