Aliases
BRG1-associated factor 47, Integrase interactor 1 protein, SNF5 homolog, BAF47, INI1, SNF5L1, SMARCB1
Antibody Type
Polyclonal Antibody
Species
Human
Uniprot ID
Q12824
Immunogen
Recombinant human SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 protein (2-376AA)
Raised In
Rabbit
Species Reactivity
Human
Tested Applications
ELISA;Not yet tested in other applications.
Background / Function
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene.
Isotype
IgG
Conjugate
HRP
Storage Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze.
Purity
Caprylic Acid Ammonium Sulfate Precipitation purified
Literature
[1]”Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.” Tsurusaki Y., Okamoto N., Ohashi H., Kosho T., Imai Y., Hibi-Ko Y., Kaname T., Naritomi K., Kawame H., Wakui K., Fukushima Y., Homma T., Kato M., Hiraki Y., Yamagata T., Yano S., Mizuno S., Sakazume S. expand/collapse author list Matsumoto N. Nat. Genet. 44:376-378(2012). [2]”Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.” Sestini R., Bacci C., Provenzano A., Genuardi M., Papi L. Hum. Mutat. 29:227-231(2008). [3]”Germline mutation of INI1/SMARCB1 in familial schwannomatosis.” Hulsebos T.J.M., Plomp A.S., Wolterman R.A., Robanus-Maandag E.C., Baas F., Wesseling P. Am. J. Hum. Genet. 80:805-810(2007).
