SMARCA1 Gene Summary [Human]
This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Details
| Type | Retained Intron |
| Official Symbol | SMARCA1 |
| Official Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Source:HGNC Symbol;Acc:HGNC:11097] |
| Ensembl ID | ENSG00000102038 |
| Bio databases IDs | |
| Aliases | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 |
| Synonyms | 5730494M04Rik, hSNF2L, ISWI, LOC102638489, NURF140, RGD1561046, SNF2L, SNF2L1, SNF2 related chromatin remodeling ATPase 1, SWI, SWI2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMARCA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SANT
- transcription regulator
- SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
- nucleic acid binding
- HAND
- helicase
- DEAD/DEAH box helicase
- SNF2-related domain
- helicase superfamily c-terminal domain
- SLIDE
- transcription factor binding
- isomerase
- chromatin binding
- protein binding
- enzyme
- DNA dependent ATPase
- Helicase conserved C-terminal domain
- single-stranded DNA binding
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- peripheral arterial disease
- epithelial cancer
- liver cancer
- breast cancer
- organismal death
- serous ovarian cancer
- rectal adenocarcinoma
- colorectal carcinomagenesis
- rectum cancer
role in cell
- apoptosis
- differentiation
- morphology
- phosphorylation in
- proliferation
- damage in
- G2/M phase
- DNA damage response
- remodeling
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- nucleoplasm
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMARCA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- neuron differentiation
- positive regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- brain development
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- intracellular membrane-bounded organelle
- NURF complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ATP binding
- DNA-dependent ATPase activity
- protein binding
- nucleosome binding
- helicase activity
- hydrolase activity