Basic Information

Symbol
SMARCB1
RNA class
mRNA
Alias
SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1 BAF47 PPP1R144 SNF5L1 INI-1 HSNFS Sfh1p Ini1 Snr1 SNF5 RDT SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1 SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1 Protein Phosphatase 1, Regulatory Subunit 144 Sucrose Nonfermenting, Yeast, Homolog-Like 1 Malignant Rhabdoid Tumor Suppressor Integrase Interactor 1 Protein BRG1-Associated Factor 47 SNF5 Homolog HSNF5 SWI/SNF-Related Matrix-Associated Protein Integrase Interactor 1 SWNTS1 MRD15 RTPS1 CSS3 INI1
Location (GRCh38)
22:23786931-23838009
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003073.5
Sequence length
5191.0 nt
GC content
0.5958

Transcripts

ID Sequence Length GC content
NM_001007468.3 NCBI
GCCAGCGCCUGCGCACUGAGGGCGGCCUGGUCGUCGUCUGCGGCGGCGG… 5164 nt 0.5974
NM_001317946.2 NCBI
GCCAGCGCCUGCGCACUGAGGGCGGCCUGGUCGUCGUCUGCGGCGGCGG… 5218 nt 0.5972
NM_001362877.2 NCBI
GCCAGCGCCUGCGCACUGAGGGCGGCCUGGUCGUCGUCUGCGGCGGCGG… 5245 nt 0.5956
NM_003073.5 NCBI
GCCAGCGCCUGCGCACUGAGGGCGGCCUGGUCGUCGUCUGCGGCGGCGG… 5191 nt 0.5958
Summary

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] CIViC Summary for SMARCB1 Gene

Forensic Context

A study in mice demonstrated that the SMARCB1 mRNA was down-regulated (0.19-fold) in bone marrow cells 6 hours after a 6.5 Gy whole-body ionizing radiation exposure, as identified through microarray analysis [Dai et al. DOI:10.1080/09553000600857389]. This differential expression was part of a broader transcriptional response involving 34 up-regulated and 69 down-regulated genes, with the SMARCB1 categorized among genes involved in processes such as RNA processing.