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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.
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
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
22
Cytoband
q11.23
Chromosome location (bp)
23786931 - 23838009
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, 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 part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [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.
A0A0G2JRV3 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
G5E975 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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Phobius predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
B5MCL5 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
Q12824 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others 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:0000228[nuclear chromosome] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0001164[RNA polymerase I core promoter sequence-specific DNA binding] GO:0001188[RNA polymerase I preinitiation complex assembly] GO:0001650[fibrillar center] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006337[nucleosome disassembly] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0015074[DNA integration] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0030957[Tat protein binding] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0035060[brahma complex] GO:0039692[single stranded viral RNA replication via double stranded DNA intermediate] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0043923[positive regulation by host of viral transcription] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0070316[regulation of G0 to G1 transition] GO:0070603[SWI/SNF superfamily-type complex] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0090240[positive regulation of histone H4 acetylation] GO:0140092[bBAF complex] GO:1900110[negative regulation of histone H3-K9 dimethylation] GO:1900113[negative regulation of histone H3-K9 trimethylation] GO:1901838[positive regulation of transcription of nucleolar large rRNA by RNA polymerase I] GO:1902459[positive regulation of stem cell population maintenance] GO:1902661[positive regulation of glucose mediated signaling pathway] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
C9JTA6 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
A0A0U1RRB8 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 Q86WI7 [Target identity:100%; Query identity:100%] Integrase interactor 1 protein isoform E
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
A0A0U1RQQ2 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 Q86WI8 [Target identity:100%; Query identity:100%] Integrase interactor 1 protein isoform D
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others Protein evidence (Ezkurdia et al 2014)
Q12824 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Others 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:0000228[nuclear chromosome] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0001164[RNA polymerase I core promoter sequence-specific DNA binding] GO:0001188[RNA polymerase I preinitiation complex assembly] GO:0001650[fibrillar center] GO:0001741[XY body] GO:0001824[blastocyst development] GO:0001835[blastocyst hatching] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006325[chromatin organization] GO:0006337[nucleosome disassembly] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0008285[negative regulation of cell population proliferation] GO:0015074[DNA integration] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0030957[Tat protein binding] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0035060[brahma complex] GO:0039692[single stranded viral RNA replication via double stranded DNA intermediate] GO:0042802[identical protein binding] GO:0043073[germ cell nucleus] GO:0043231[intracellular membrane-bounded organelle] GO:0043923[positive regulation by host of viral transcription] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0070316[regulation of G0 to G1 transition] GO:0070365[hepatocyte differentiation] GO:0070603[SWI/SNF superfamily-type complex] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0090240[positive regulation of histone H4 acetylation] GO:0140092[bBAF complex] GO:1900110[negative regulation of histone H3-K9 dimethylation] GO:1900113[negative regulation of histone H3-K9 trimethylation] GO:1901838[positive regulation of transcription of nucleolar large rRNA by RNA polymerase I] GO:1902459[positive regulation of stem cell population maintenance] GO:1902661[positive regulation of glucose mediated signaling pathway] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
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