SMARCB1 Gene Summary [Human]

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
SMARCB1
Official Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Source:HGNC Symbol;Acc:HGNC:11103]
Ensembl ID
ENSG00000099956
Bio databases IDs NCBI: 6598 Ensembl: ENSG00000099956
Aliases SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, sucrose nonfermenting, yeast, homolog-like 1, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144
Synonyms BAF47, CSS3, hSNFS, INI1, LOC103694876, MRD15, PPP1R144, RDT, RTPS1, Sfh1p, SMARB1, SNF5, SNF5/INI1, SNF5L1, Snr1, SWI/SNF related BAF chromatin remodeling complex subunit B1, SWNTS1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMARCB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • transcription co-activator
  • nuclear export signal
  • WH_NTD_SMARCB1_like
  • Ini1/SNF5 binding domain
  • INI1 repeat domain
  • nucleic acid binding
  • SNF5 homology domain
  • transcription factor binding
  • coiled-coil domain
  • p53 binding
  • protein binding
  • sequence-specific DNA binding
  • identical protein binding
  • integrase binding domain
  • DNA binding
  • repeat 2 domain
  • repeat 1 domain
  • double-stranded DNA binding
  • SNF5 / SMARCB1 / INI1

Pathways

Biological processes and signaling networks where the SMARCB1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • neoplasia
  • Burkitt lymphoma
  • schwannomatosis type 1
  • hereditary cancer-predisposing syndrome
  • autosomal dominant mental retardation type 15
  • rhabdoid tumor
  • rhabdoid cancer
  • dementia
  • conventional mantle cell lymphoma
regulated by
regulates
role in cell
  • apoptosis
  • colony formation
  • cell viability
  • survival
  • cell survival
  • migration
  • expression in
  • activation in
  • phosphorylation in
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • nuclear matrix fraction
  • fibrillar center
  • intracellular membrane-bounded organelle
  • Cytoplasm
  • nucleoplasm
  • nucleoli
  • sex chromatin
  • endocytotic vesicle
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SMARCB1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation by host of viral transcription
  • regulation of mitotic metaphase/anaphase transition
  • positive regulation of gene expression, epigenetic
  • negative regulation of cell proliferation
  • nervous system development
  • DNA integration
  • positive regulation of cell differentiation
  • positive regulation of myoblast differentiation
  • positive regulation of transcription from RNA polymerase II promoter
  • positive regulation of sequence-specific DNA binding transcription factor activity
  • regulation of nucleotide-excision repair
  • nucleosome disassembly
  • regulation of transcription from RNA polymerase II promoter
  • RNA polymerase I transcriptional preinitiation complex assembly
  • chromatin remodeling
  • hepatocyte differentiation
  • positive regulation of T cell differentiation
  • blastocyst hatching
  • regulation of G1/S transition of mitotic cell cycle
  • positive regulation of double-strand break repair
  • regulation of G0 to G1 transition

Cellular Component

Where in the cell the gene product is active
  • SWI/SNF complex
  • nuclear chromosome
  • brahma complex
  • kinetochore
  • nucleolus
  • chromatin
  • fibrillar center
  • nucleoplasm
  • XY body
  • nucleus
  • germ cell nucleus
  • npBAF complex
  • intracellular membrane-bounded organelle
  • nuclear matrix
  • macromolecular complex
  • nBAF complex
  • RSC complex

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • identical protein binding
  • p53 binding
  • RNA polymerase I CORE element sequence-specific DNA binding
  • protein binding
  • transcription coactivator activity
  • Tat protein binding
  • nucleosomal DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.