This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Probable helicase senataxin.
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 recruiting 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).
Human | |
---|---|
Gene Name: | SETX |
Uniprot: | Q7Z333 |
Entrez: | 23064 |
Belongs to: |
---|
DNA2/NAM7 helicase family |
ALS4recessive, non-Friedreich type 1; AOA2FLJ43459; DKFZp781B151; KIAA0625FLJ12840; senataxin; SETX
Mass (kDA):
302.88 kDA
Human | |
---|---|
Location: | 9q34.13 |
Sequence: | 9; NC_000009.12 (132261356..132356726, complement) |
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).
Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Chromosome. Chromosome, telomere. Cell projection, axon. Cell projection, growth cone. May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mi
PMID: 14770181 by Moreira M.-C., et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia- ocular apraxia 2.
PMID: 17562789 by Suraweera A., et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.