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

Symbol

SMARCA4 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
swsn-4 Caenorhabditis elegans
smarca4 Danio rerio
Smarca4 Mus musculus
Smarca4 Rattus norvegicus
snf22 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3401 Gene expression of SMARCA4 increases with age Molecular skin Human SMARCA4 —

GO Terms

GO IDGO TermGO Category
GO:0000122 negative regulation of transcription from RNA polymerase II promoter biological_process
GO:0003407 neural retina development biological_process
GO:0006337 nucleosome disassembly biological_process
GO:0006338 chromatin remodeling biological_process
GO:0006355 regulation of transcription, DNA-dependent biological_process
GO:0006357 regulation of transcription from RNA polymerase II promoter biological_process
GO:0007399 nervous system development biological_process
GO:0030308 negative regulation of cell growth biological_process
GO:0043923 positive regulation by host of viral transcription biological_process
GO:0045749 negative regulation of S phase of mitotic cell cycle biological_process
GO:0045892 negative regulation of transcription, DNA-dependent biological_process
GO:0045893 positive regulation of transcription, DNA-dependent biological_process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter biological_process
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity biological_process
GO:0060766 negative regulation of androgen receptor signaling pathway biological_process
GO:0000790 nuclear chromatin cellular_component
GO:0005634 nucleus cellular_component
GO:0016514 SWI/SNF complex cellular_component
GO:0071564 npBAF complex cellular_component
GO:0071565 nBAF complex cellular_component
GO:0071778 WINAC complex cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0002039 p53 binding molecular_function
GO:0003677 DNA binding molecular_function
GO:0003713 transcription coactivator activity molecular_function
GO:0003714 transcription corepressor activity molecular_function
GO:0004386 helicase activity molecular_function
GO:0005515 protein binding molecular_function
GO:0005524 ATP binding molecular_function
GO:0008094 DNA-dependent ATPase activity molecular_function
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides molecular_function
GO:0030957 Tat protein binding molecular_function
GO:0047485 protein N-terminus binding molecular_function
GO:0050681 androgen receptor binding molecular_function
GO:0070577 histone acetyl-lysine binding molecular_function