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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 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
3
Cytoband
q26.33
Chromosome location (bp)
179562886 - 179588407
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). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. 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). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Chromatin regulator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA recombination, DNA repair, Growth regulation, Neurogenesis, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been 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.
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes 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:0000723[telomere maintenance] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0000786[nucleosome] GO:0003407[neural retina development] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006275[regulation of DNA replication] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006310[DNA recombination] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007165[signal transduction] GO:0007399[nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016573[histone acetylation] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0031011[Ino80 complex] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0033044[regulation of chromosome organization] GO:0035060[brahma complex] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045582[positive regulation of T cell differentiation] GO:0045596[negative regulation of cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045739[positive regulation of DNA repair] GO:0045893[positive regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0051726[regulation of cell cycle] GO:0060382[regulation of DNA strand elongation] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0140288[GBAF complex] GO:1902459[positive regulation of stem cell population maintenance] GO:1904507[positive regulation of telomere maintenance in response to DNA damage] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000779[regulation of double-strand break repair] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0000786[nucleosome] GO:0001825[blastocyst formation] GO:0003407[neural retina development] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006275[regulation of DNA replication] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006310[DNA recombination] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007165[signal transduction] GO:0007399[nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016573[histone acetylation] GO:0016586[RSC-type complex] GO:0021510[spinal cord development] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0031011[Ino80 complex] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0033044[regulation of chromosome organization] GO:0035060[brahma complex] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045582[positive regulation of T cell differentiation] GO:0045596[negative regulation of cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045739[positive regulation of DNA repair] GO:0045893[positive regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0051726[regulation of cell cycle] GO:0060382[regulation of DNA strand elongation] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0140288[GBAF complex] GO:1902459[positive regulation of stem cell population maintenance] GO:1904507[positive regulation of telomere maintenance in response to DNA damage] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000779[regulation of double-strand break repair] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000776[kinetochore] GO:0000785[chromatin] GO:0000786[nucleosome] GO:0003407[neural retina development] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006275[regulation of DNA replication] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006310[DNA recombination] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007165[signal transduction] GO:0007399[nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016573[histone acetylation] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0031011[Ino80 complex] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0033044[regulation of chromosome organization] GO:0035060[brahma complex] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042981[regulation of apoptotic process] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045582[positive regulation of T cell differentiation] GO:0045596[negative regulation of cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045739[positive regulation of DNA repair] GO:0045893[positive regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0051726[regulation of cell cycle] GO:0060382[regulation of DNA strand elongation] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0140288[GBAF complex] GO:1902459[positive regulation of stem cell population maintenance] GO:1904507[positive regulation of telomere maintenance in response to DNA damage] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000779[regulation of double-strand break repair] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
The Human Protein Atlas project is funded
