protein
AT-rich interactive domain-containing protein 1B
aka ARID domain-containing protein 1B
Gene
ARID1B
Organism
Homo sapiens(9606)
Length
2319 aa
Mass
243,943 Da
ARID1B (AT-rich interactive domain-containing protein 1B) is a 2319-amino acid protein that functions in transcriptional regulation through chromatin remodeling (UniProt: Q8NFD5). It serves as a core component of SWI/SNF chromatin remodeling complexes, which alter DNA-nucleosome topology in an ATP-dependent manner to modulate gene activation and repression. The protein binds DNA non-specifically and participates in both neural progenitor-specific (npBAF) and neuron-specific (nBAF) chromatin remodeling complexes.
ARID1B plays a critical role during neural development, particularly in the transition from proliferating neural stem/progenitor cells to postmitotic neurons. The npBAF complex containing ARID1B is essential for neural stem cell self-renewal, while nBAF complexes regulate genes necessary for dendrite growth. Mutations in ARID1B cause Coffin-Siris syndrome 1, a congenital multiple malformation syndrome characterized by intellectual disability, distinctive facial features, hypoplasia of fifth digit nails or phalanges, and various cardiac, gastrointestinal, and neurological abnormalities (UniProt: Q8NFD5).
ARID1B is classified as a high-confidence autism risk gene (SFARI Cat 1) and is associated with syndromic autism presentations (SFARI Cat syndromic). These classifications reflect the gene's documented role in neurodevelopmental disorders beyond Coffin-Siris syndrome, connecting chromatin remodeling dysfunction to autism spectrum conditions.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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. 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). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388)
Disease associations
Coffin-Siris syndrome 1CSS1
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Sources
Last updated 5/6/2026, 5:25:52 AM