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Gene: SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) Homo sapiens
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Symbol: SMARCB1
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Description: Exhibits several functions, including RNA polymerase I CORE element sequence-specific DNA binding activity; Tat protein binding activity; and p53 binding activity. Contributes to RNA polymerase II distal enhancer sequence-specific DNA binding activity; RNA polymerase II proximal promoter sequence-specific DNA binding activity; and nucleosomal DNA binding activity. Involved in several processes, including chromatin organization; regulation of histone modification; and regulation of transcription, DNA-templated. Localizes to the SWI/SNF complex; fibrillar center; and nucleoplasm. Implicated in Coffin-Siris syndrome 3; atypical teratoid rhabdoid tumor; neurilemmomatosis; and rhabdoid cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAF47; BRG1-associated factor 47; CSS3; hSNF5; hSNFS; INI1; integrase interactor 1 protein; malignant rhabdoid tumor suppressor; MRD15; PPP1R144; RDT; RTPS1; Sfh1p; SNF5; SNF5 homolog; SNF5L1; Snr1; sucrose nonfermenting, yeast, homolog-like 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; SWI/SNF-related matrix-associated protein; SWNTS1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2223,786,931 - 23,838,008 (+)Ensembl
GRCh382223,786,966 - 23,838,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,129,150 - 24,176,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,459,150 - 22,506,705 (+)NCBINCBI36hg18NCBI36
Build 342222,453,703 - 22,501,258NCBI
Celera227,968,247 - 8,015,764 (+)NCBI
Cytogenetic Map22q11.23NCBI
HuRef227,117,207 - 7,164,626 (+)NCBIHuRef
CHM1_12224,141,361 - 24,188,920 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on SMARCB1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1318721
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.