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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
14
Cytoband
q23.1
Chromosome location (bp)
58298504 - 58373887
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex 1. Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]...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 Helix-turn-helix domains 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:0000976[transcription cis-regulatory region binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0010468[regulation of gene expression] GO:0016580[Sin3 complex] GO:0017053[transcription repressor complex] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0051171[regulation of nitrogen compound metabolic process] GO:0080090[regulation of primary metabolic process] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006325[chromatin organization] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0010468[regulation of gene expression] GO:0016580[Sin3 complex] GO:0017053[transcription repressor complex] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0034773[histone H4-K20 trimethylation] GO:0036124[histone H3-K9 trimethylation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048821[erythrocyte development] GO:0051171[regulation of nitrogen compound metabolic process] GO:0080090[regulation of primary metabolic process] GO:0080182[histone H3-K4 trimethylation] GO:0097368[establishment of Sertoli cell barrier] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains 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:0000976[transcription cis-regulatory region binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0010468[regulation of gene expression] GO:0016580[Sin3 complex] GO:0017053[transcription repressor complex] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0051171[regulation of nitrogen compound metabolic process] GO:0080090[regulation of primary metabolic process] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0010468[regulation of gene expression] GO:0016580[Sin3 complex] GO:0017053[transcription repressor complex] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0051171[regulation of nitrogen compound metabolic process] GO:0080090[regulation of primary metabolic process] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
The Human Protein Atlas project is funded
