SMARCA4

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Description

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli fibrillar center, Nucleoli rim

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (10960932 - 11079426)

Ensembl ID

ENSG00000127616  (ver. 103.38)

Orthologs

Mouse Smarca4: ENSMUSG00000032187

UniProt

P51532

neXtProt

NX_P51532

Human splice variants
Mouse splice variants

Protein structure