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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
1
Cytoband
p36.11
Chromosome location (bp)
26693236 - 26782104
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. Binds DNA non-specifically. 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)....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.
This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and 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, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. 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.
O14497 [Direct mapping] AT-rich interactive domain-containing protein 1A
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders 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:0000785[chromatin] GO:0003677[DNA binding] 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:0006357[regulation of transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0016514[SWI/SNF complex] GO:0016922[nuclear receptor binding] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030521[androgen receptor signaling pathway] GO:0031491[nucleosome binding] GO:0035060[brahma complex] GO:0042921[glucocorticoid receptor signaling pathway] GO:0045582[positive regulation of T 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:0070316[regulation of G0 to G1 transition] GO:0070603[SWI/SNF superfamily-type complex] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0140092[bBAF 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]
O14497 [Direct mapping] AT-rich interactive domain-containing protein 1A
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0003677[DNA binding] 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:0006357[regulation of transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0016514[SWI/SNF complex] GO:0016922[nuclear receptor binding] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030521[androgen receptor signaling pathway] GO:0031491[nucleosome binding] GO:0035060[brahma complex] GO:0042921[glucocorticoid receptor signaling pathway] GO:0045582[positive regulation of T 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:0070316[regulation of G0 to G1 transition] GO:0070603[SWI/SNF superfamily-type complex] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0140092[bBAF 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]
H0Y488 [Direct mapping] AT-rich interactive domain-containing protein 1A
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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 Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
O14497 [Direct mapping] AT-rich interactive domain-containing protein 1A
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders 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:0000785[chromatin] GO:0003677[DNA binding] 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:0006357[regulation of transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0016514[SWI/SNF complex] GO:0016922[nuclear receptor binding] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030521[androgen receptor signaling pathway] GO:0031491[nucleosome binding] GO:0035060[brahma complex] GO:0042921[glucocorticoid receptor signaling pathway] GO:0045582[positive regulation of T 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:0070316[regulation of G0 to G1 transition] GO:0070603[SWI/SNF superfamily-type complex] GO:0071564[npBAF complex] GO:0071565[nBAF complex] GO:0140092[bBAF 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]
E9PQW6 [Direct mapping] AT-rich interactive domain-containing protein 1A
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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 Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1B0GTU5 [Direct mapping] AT-rich interactive domain-containing protein 1A
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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 Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
A0A1B0GVT5 [Direct mapping] AT-rich interactive domain-containing protein 1A
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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 Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Other congenital malformations Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
