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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 d, member 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
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
12
Cytoband
q13.12
Chromosome location (bp)
50085200 - 50100707
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 1,2. 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). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer 3. Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation 4. Interacts with AKIRIN2 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Neurogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [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.
Q96GM5 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations 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:0000776[kinetochore] GO:0000785[chromatin] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] 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:0007399[nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0016043[cellular component organization] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0043231[intracellular membrane-bounded organelle] 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:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0060090[molecular adaptor activity] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0140288[GBAF complex] GO:1902459[positive regulation of stem cell population maintenance] 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]
Q96GM5 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations 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:0000776[kinetochore] GO:0000785[chromatin] GO:0003682[chromatin binding] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] 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:0007399[nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0016043[cellular component organization] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0043231[intracellular membrane-bounded organelle] 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:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0060090[molecular adaptor activity] GO:0070316[regulation of G0 to G1 transition] GO:0071398[cellular response to fatty acid] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0140288[GBAF complex] GO:1902459[positive regulation of stem cell population maintenance] 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]
F8VRQ4 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0016043[cellular component organization] GO:0016514[SWI/SNF complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0045582[positive regulation of T cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0071565[nBAF complex] 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]
F8VUB0 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0016043[cellular component organization] GO:0016514[SWI/SNF complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0043231[intracellular membrane-bounded organelle] GO:0045582[positive regulation of T cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:0071564[npBAF complex] GO:0071565[nBAF complex] 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]
F8VW95 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
F8VZ70 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
