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SMARCB1 (NM_003073) - 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 Isoform A

Mutations Visualisation

Protein summary

This is preferred isoform of SMARCB1 protein. View all 2 isoforms
SMARCB1: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform a
Description:

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].

Strand
+
Chromosome
22
Protein
385 residues
All mutations
96
PTM sites
14
CDS
24,129,356 - 24,176,367
Transcription
24,129,149 - 24,176,705
13.25% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 6598
UniProt
Ensembl