Tbio SETX Probable helicase senataxin

Protein Summary

Description

Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111). 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]

Uniprot Accession IDs

• Q7Z333
• A2A396
• B2RPB2
• B5ME16
• C9JQ10
• O75120
• Q3KQX4
• Q5JUJ1
• Q68DW5
• Q6AZD7
• Q7Z3J6
• Q8WX33
• Q9H9D1
• Q9NVP9

Gene Name

• SETX

Ensembl ID

• ENST00000224140
• ENSP00000224140
• ENSG00000107290

Symbol

• ALS4
• KIAA0625
• SCAR1
• ALS4
• AOA2
• Sen1
• SCAR1
• bA479K20.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.99
interacting protein	0.98
biological process	0.96
ligand (protein) perturbation	0.83
transcription factor binding site profile	0.83

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Nuclease / Endoribonuclease / Probable Helicase Senataxin

Protein / Nucleic Acid Binding / Helicase / Rna Helicase / Probable Helicase Senataxin

Protein / Nucleic Acid Binding / Helicase / Dna Helicase / Probable Helicase Senataxin

Protein / Nucleic Acid Binding / Rna Binding Protein / Endoribonuclease / Probable Helicase Senataxin

Protein / Nucleic Acid Binding / Rna Binding Protein / Rna Helicase / Probable Helicase Senataxin

Protein / Nucleic Acid Binding / Dna Binding Protein / Dna Helicase / Probable Helicase Senataxin

Protein / Hydrolase / Probable Helicase Senataxin

DTO Classes

Protein / Enzyme / Helicase / Rna Helicase / Probable Helicase Senataxin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 291.27   (req: < 5)

Gene RIFs: 63   (req: <= 3)

Antibodies: 304   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 291.27   (req: >= 5)

Gene RIFs: 63   (req: > 3)

Antibodies: 304   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 28

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0