SETX Gene Summary [Human]
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | SETX |
| Official Name | senataxin [Source:HGNC Symbol;Acc:HGNC:445] |
| Ensembl ID | ENSG00000107290 |
| Bio databases IDs | |
| Aliases | senataxin |
| Synonyms | A130090N03, A930037J23RIK, ALS4, AOA2, bA479K20.2, KIAA0625, mKIAA0625, RGD1565575, SCAN2, SCAR1, Sen1, SENATAXIN, STEX |
| 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 SETX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UvrD/REP helicase N-terminal domain
- catalytic domain
- double-stranded DNA binding
- nucleic acid binding
- N-terminal helicase domain of the DEAD-box helicase superfamily
- enzyme
- protein binding
- sequence-specific DNA binding
- identical protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- DNA helicase
- AAA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous cell lung cancer
- dementia
- ataxia-ocular apraxia 2
- lung squamous cell carcinoma
- hereditary disorder
- autosomal dominant amyotrophic lateral sclerosis
- organismal death
- hereditary spastic ataxia
- cerebellar ataxia
- distal spinal muscular atrophy
role in cell
- phosphorylation in
- expression in
- cell viability
- apoptosis
- differentiation
- replication in
- processing in
- development
- survival
- DNA damage response
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
- Cytoplasm
- cytoplasmic bridges
- nuclear foci
- chromosome
- nucleoplasm
- nuclear bodies
- growth cone
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of RNA splicing
- spermatogenesis
- mRNA splice site selection
- nervous system development
- DNA recombination
- RNA processing
- transcription termination, DNA-dependent
- response to DNA damage stimulus
- termination of RNA polymerase II transcription
- circadian rhythm
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription termination, DNA-dependent
- double-strand break repair
- positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled
- DNA duplex unwinding
- cell differentiation
- cellular response to oxidative stress
- positive regulation of transcription initiation, DNA-dependent
- positive regulation of neuron projection development
- cellular response to hydrogen peroxide
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- chromosome, telomeric region
- intercellular bridge
- nuclear body
- cytoplasm
- nuclear chromosome
- nucleolus
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ATP binding
- identical protein binding
- DNA helicase activity
- protein binding
- RNA binding
- transcription termination site sequence-specific DNA binding
- hydrolase activity