ARID1A Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ARID1A
Official Name
AT-rich interaction domain 1A [Source:HGNC Symbol;Acc:HGNC:11110]
Ensembl ID
ENSG00000117713
Bio databases IDs NCBI: 8289 Ensembl: ENSG00000117713
Aliases AT-rich interaction domain 1A
Synonyms 1110030E03Rik, AT-rich interaction domain 1A, B120, BAF250, BAF250A, BM029, C1orf4, CSS2, ELD, hELD, hOSA1, HSP16.2, MRD14, OSA1, P270, SMARCF1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARID1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • ligand-dependent nuclear receptor interactor
  • LXXLL motif
  • transcription co-activator
  • binding protein
  • chromatin binding
  • protein binding
  • DNA dependent ATPase
  • ARID/BRIGHT DNA binding domain
  • DNA binding
  • SWI/SNF-like complex subunit BAF250/Osa
  • ARID/BRIGHT DNA binding domain family

Pathways

Biological processes and signaling networks where the ARID1A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • epithelial neoplasia
  • autosomal dominant mental retardation type 14
  • ARID1A-related disorder
  • bladder cancer
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • metastasis
  • non-Hodgkin lymphoma
  • non-Hodgkin disease
regulated by
regulates
role in cell
  • accumulation in
  • quantity
  • expression in
  • apoptosis
  • number
  • activation in
  • phosphorylation in
  • growth
  • binding in
  • formation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Cytoplasm
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ARID1A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • glucocorticoid receptor signaling pathway
  • regulation of mitotic metaphase/anaphase transition
  • positive regulation of gene expression, epigenetic
  • nervous system development
  • positive regulation of myoblast differentiation
  • positive regulation of cell differentiation
  • regulation of nucleotide-excision repair
  • nucleosome disassembly
  • regulation of transcription from RNA polymerase II promoter
  • chromatin remodeling
  • positive regulation of transcription, DNA-dependent
  • positive regulation of T cell differentiation
  • regulation of G1/S transition of mitotic cell cycle
  • positive regulation of double-strand break repair
  • androgen receptor signaling pathway
  • intracellular estrogen receptor signaling pathway
  • regulation of G0 to G1 transition

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • SWI/SNF complex
  • npBAF complex
  • brahma complex
  • nBAF complex
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • ligand-dependent nuclear receptor binding
  • protein binding
  • transcription coactivator activity
  • nucleosome binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.