SMARCB1 Protein

A component of the SWI-SNF CHROMATIN REMODELING complex that functions as a PROTEIN PHOSPHATASE 1 regulator and to stabilize CHROMATIN at PROMOTER REGIONS. It is important for regulating CELL PROLIFERATION and CELL DIFFERENTIATION. Mutations in the SMARCB1 gene are associated with malignant RHABDOID TUMORS.

Also Known As:

BAF47 Protein; BRG1-Associated Factor 47 Protein; Integrase Interactor 1 Protein; SNF5 Homolog Protein; Swi-Snf-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1; BRG1 Associated Factor 47 Protein; Swi Snf Related Matrix Associated Actin Dependent Regulator Of Chromatin Subfamily B Member 1

Networked: 46 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Biegel, Jaclyn A: 4 articles (06/2015 - 01/2012)
2.	Nanjangud, Gouri J: 3 articles (10/2020 - 12/2017)
3.	Judkins, Alexander R: 3 articles (01/2020 - 01/2012)
4.	Folpe, Andrew L: 3 articles (06/2015 - 01/2012)
5.	Frühwald, Michael C: 2 articles (01/2021 - 09/2014)
6.	Kohashi, Kenichi: 2 articles (01/2021 - 06/2014)
7.	Oda, Yoshinao: 2 articles (01/2021 - 06/2014)
8.	Oyen, Florian: 2 articles (01/2021 - 09/2014)
9.	Siebert, Reiner: 2 articles (01/2021 - 09/2014)
10.	Yamada, Yuichi: 2 articles (01/2021 - 06/2014)

Related Diseases

1.	Neoplasms (Cancer) 04/01/2022 - "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a tumor suppressor gene located at chromosome 22q11.2. In the past decade, a major stride has been taken for decoding the molecular genesis of various tumors which has resulted in the addition of newer tumors harboring loss of this gene." 04/01/2022 - "Reappraisal of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1/INI-1 deficient tumor: Report of two cases." 01/01/2018 - "The tumor cells were completely negative for SMARCB1 protein expression by immunohistochemistry. " 12/01/2017 - "Tumors were analyzed for expression of SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1 (SMARCB1) through immunohistochemistry and for genomic alterations with fluorescence in situ hybridization for SMARCB1, and targeted next-generation sequencing. " 06/01/2014 - "However, it is controversial whether these tumors are distinct entities because they share similar histological and immunohistochemical features such as the existence of rhabdoid cells or complete loss of SMARCB1 protein expression. "
2.	Rhabdoid Tumor (Rhabdoid Tumors) 01/01/2018 - "SMARCB1 (INI1) is a tumor-suppressor gene located at 22q11.2. Loss of SMARCB1 protein expression has been reported to be associated with atypical teratoid/rhabdoid tumors and malignant rhabdoid tumors of the kidney and extrarenal tissues. " 09/01/2014 - "As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. " 04/21/1999 - "The human SMARCB1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named the INI1/hSNF5 gene) is a tumor suppressor gene located on chromosome 22q11.2 and is inactivated in malignant rhabdoid tumors. " 09/01/2014 - "However, also nonsense and frameshift mutations, which are characteristic for rhabdoid tumors and are predicted to result in the absence of SMARCB1 protein via nonsense-mediated mRNA decay, have been reported in schwannomatosis patients. " 10/01/2020 - "Biallelic inactivation of the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1)/integrase interactor 1 (INI1) gene is the only common genetic feature in rhabdoid tumors. "
3.	Sarcoma (Soft Tissue Sarcoma) 02/01/2014 - "Our results suggest loss of SMARCB1 protein expression in epithelioid sarcoma is due to the epigenetic mechanism of gene silencing by oncomiRs." 06/01/2013 - "In the present report, we identified lack of SMARCB1 protein due to a homozygous deletion of exon 1 and upstream regulatory region in epithelioid sarcoma cell line VAESBJ. " 06/01/2015 - "Epithelioid sarcoma and myoepithelial carcinoma are very rare in the vulvar region, and few of these cases have been evaluated for SMARCB1 protein loss by immunohistochemistry (IHC) or for SMARCB1 gene alterations by molecular genetic techniques. " 06/01/2014 - "Among controls, only the SMARCB1-immunonegative myoepithelial carcinomas displayed SMARCB1 homozygous deletions in 3/5 cases, while no gene specific abnormalities were seen among all other histologic subtypes of sarcomas tested regardless of the SMARCB1 protein status. " 06/01/2013 - "We previously reported loss of tumor suppressor SMARCB1 protein expression and SMARCB1 gene deletion in the majority of epithelioid sarcoma cases. "
4.	Carcinoma (Carcinomatosis) 10/01/2020 - "Genetic basis of SMARCB1 protein loss in 22 sinonasal carcinomas." 09/28/2020 - "The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures, rhabdoid features, and loss of SMARCB1 protein expression with wild-type KRAS, consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma. " 01/16/2019 - "Undifferentiated carcinoma of the esophagus with rhabdoid features is a very rare histologic finding that is occasionally associated with the loss of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1); however, until now, few survey reports of this type of tumor have been published. " 06/01/2015 - "Epithelioid sarcoma and myoepithelial carcinoma are very rare in the vulvar region, and few of these cases have been evaluated for SMARCB1 protein loss by immunohistochemistry (IHC) or for SMARCB1 gene alterations by molecular genetic techniques. " 06/01/2014 - "Among controls, only the SMARCB1-immunonegative myoepithelial carcinomas displayed SMARCB1 homozygous deletions in 3/5 cases, while no gene specific abnormalities were seen among all other histologic subtypes of sarcomas tested regardless of the SMARCB1 protein status. "
5.	Neurilemmoma (Schwannoma) 01/01/2012 - "By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. " 10/01/2008 - "The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. " 06/01/2017 - "A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas." 12/15/2012 - "These data, together with the expression of SMARCB1 protein in a proportion of cells from schwannomatosis-related schwannomas, suggest that these tumors develop through a mechanism that is distinct from that of rhabdoid tumors in which SMARCB1 protein is completely absent in tumor cells."

Related Drugs and Biologics

1.	Sucrose (Saccharose)
2.	Integrases
3.	SMARCB1 Protein
4.	Proteins (Proteins, Gene)
5.	Class Ia Phosphatidylinositol 3-Kinase
6.	beta-Transducin Repeat-Containing Proteins
7.	Cyclophilin A
8.	Cyclin-Dependent Kinase Inhibitor p16
9.	Proto-Oncogene Proteins c-met
10.	cis-trans-Isomerases

Related Therapies and Procedures

1.	Drug Therapy (Chemotherapy)