Human Gene ARID1B (ENST00000350026.10) from GENCODE V43
Description: Homo sapiens AT-rich interaction domain 1B (ARID1B), transcript variant 1, mRNA. (from RefSeq NM_017519) RefSeq Summary (NM_017519): This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. Gencode Transcript: ENST00000350026.10 Gencode Gene: ENSG00000049618.25 Transcript (Including UTRs) Position: hg38 chr6:156,777,930-157,209,142 Size: 431,213 Total Exon Count: 19 Strand: + Coding Region Position: hg38 chr6:156,777,930-157,207,891 Size: 429,962 Coding Exon Count: 19
ID:ARI1B_HUMAN DESCRIPTION: RecName: Full=AT-rich interactive domain-containing protein 1B; Short=ARID domain-containing protein 1B; AltName: Full=BRG1-associated factor 250b; Short=BAF250B; AltName: Full=BRG1-binding protein hELD/OSA1; AltName: Full=Osa homolog 2; Short=hOsa2; AltName: Full=p250R; FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). 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 post-mitotic 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 post-mitotic 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. SUBUNIT: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1A/BAF250A. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and actin. Component of a SWI/SNF-like EPAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin. Component of a SWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Interacts with SMARCC1/BAF155. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). INTERACTION: P51531:SMARCA2; NbExp=3; IntAct=EBI-679921, EBI-679562; P51532:SMARCA4; NbExp=3; IntAct=EBI-679921, EBI-302489; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed with high levels in heart, skeletal muscle and kidney. POLYMORPHISM: The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23). DISEASE: Defects in ARID1B are the cause of mental retardation autosomal dominant type 12 (MRD12) [MIM:614562]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon. SIMILARITY: Contains 1 ARID domain. CAUTION: It is uncertain whether Met-1 or Met-59 is the initiator. SEQUENCE CAUTION: Sequence=AAL76077.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAN70985.1; Type=Frameshift; Positions=857, 863; Sequence=CAA69592.1; Type=Frameshift; Positions=132;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NFD5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.