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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).
Cancer-related genes Disease related genes Human disease related genes 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
3
Cytoband
p21.1
Chromosome location (bp)
52545352 - 52685917
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation....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.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228[nuclear chromosome] GO:0000278[mitotic cell cycle] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Protein evidence (Ezkurdia et al 2014)
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