senataxin 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. Contributes to the mRNA splicing efficiency and splice site selection. 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. Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation. Involved in DNA double-strand breaks damage response generated by oxidative stress. In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage. 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). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription. Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis. Belongs to the DNA2/NAM7 helicase family. Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus). 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: EC 3.6.1.-; EC 3.6.4.-; Helicase; Nucleolus
Chromosomal Location of human Ortholog: 9q34.13
Cellular Component:  axon; chromosome, telomeric region; cytoplasm; growth cone; intercellular bridge; nuclear body; nuclear chromosome; nucleolus; nucleoplasm; nucleus
Molecular Function:  ATP binding; DNA binding; DNA helicase activity; identical protein binding; protein binding; transcription termination site sequence-specific DNA binding
Biological Process:  cellular response to DNA damage stimulus; cellular response to fibroblast growth factor stimulus; cellular response to hydrogen peroxide; cellular response to oxidative stress; cellular response to retinoic acid; circadian rhythm; DNA duplex unwinding; DNA recombination; DNA-templated transcription, termination; double-strand break repair; fibroblast growth factor receptor signaling pathway; MAPK cascade; mRNA splice site selection; negative regulation of apoptotic process; positive regulation of DNA-templated transcription, initiation; positive regulation of DNA-templated transcription, termination; positive regulation of neuron projection development; positive regulation of RNA splicing; positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled; positive regulation of transcription by RNA polymerase II; protein kinase B signaling; RNA processing; spermatogenesis
Disease: Amyotrophic Lateral Sclerosis 4, Juvenile; Spinocerebellar Ataxia, Autosomal Recessive 1
Reference #:  Q7Z333 (UniProtKB)
Alt. Names/Synonyms: ALS4; Amyotrophic lateral sclerosis 4 protein; AOA2; bA479K20.2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; Probable helicase senataxin; SCAN2; SCAR1; Sen1; SEN1 homolog; senataxin; SETX
Gene Symbols: SETX
Molecular weight: 302,880 Da
Basal Isoelectric point: 6.83  Predict pI for various phosphorylation states
Select Structure to View Below

senataxin

Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene