senataxin; amyotrophic lateral sclerosis 4 protein; SEN1 homolog (SETX, ALS4, KIAA0625, SCAR1)

Function

• probable helicase
• may be involved in RNA maturation
• role in DNA double-strand breaks damage response generated by oxidative stress

Structure

belongs to the DNA2/NAM7 helicase family

Compartment

• nucleus, nucleoplasm, nucleolus
• cytoplasm
• detected in the nucleolus only in cycling cells (putative)
• most abundant in the nucleus
• detected in granules
• colocalized in cycling cells with FBL in the nucleolus

Alternative splicing

named isoforms=3

Expression

• highly expressed in skeletal muscle
• expressed in heart, fibroblast, placenta & liver
• weakly expressed in brain & lung
• expressed in the cortex of the kidney
  • highly expressed in tubular epithelial cells
  • low expression in the renal glomerulus

Pathology

• mutations associated with:
  • ataxia-ocular apraxia 2
  • amyotrophic lateral sclerosis 4

More general terms

• helicase (DNA unwinding protein, DNA untwisting protein)
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23064
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23064
• OMIM: https://mirror.omim.org/entry/602433
• OMIM: https://mirror.omim.org/entry/606002
• OMIM: https://mirror.omim.org/entry/608465
• UniProt: http://www.uniprot.org/uniprot/Q7Z333.html