Biomarker: SMARCB1

Histology type: Dedifferentiated endometrial carcinomas (DDECs)/undifferentiated endometrial carcinomas (UDECs)

Country: Canada

Region: BC

Followed up time :

Conclusion: ARID1B, SMARCA4 and SMARCB1 immunohistochemistry can be used to aid in the differentiation betweenDedifferentiated endometrial carcinomas (DDECs)/undifferentiated endometrial carcinomas (UDECs) andneuroendocrine carcinoma (NEC).

Sample type : tissues

Sample method: immunohistochemistry

Expression pattern : upregulated

Funtion Uniprot: 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 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1

UniProt ID: Q12824

UniProt Link: https://www.uniprot.org/uniprotkb/Q12824

Biological function from UniProt: #Cell cycle #Host-virus interaction #Neurogenesis #Transcription #Transcription regulation

Molecular function from UniProt:

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Gene name from HGNC: SMARCB1

HPA class: Cancer-related genes Disease related genes Human disease related genes Plasma proteins

AlphaFold DB: Q12824

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q12824

HPA link: https://www.proteinatlas.org/ENSG00000099956-SMARCB1

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Non-specific - Transcription (mainly)

Single cell type specificity Cell type enhanced (Oocytes, Extravillous trophoblasts)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Localized to the Nucleoplasm In addition localized to the Nucleoli fibrillar center

Cancer prognostic summary HPA Prognostic marker in renal cancer (favorable) and liver cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000099956-SMARCB1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000099956-SMARCB1/pathology/endometrial+cancer

OMIM: 162091

OMIM link2: https://www.omim.org/entry/162091

HGNC ID: HGNC:11103

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103