Description: Homo sapiens senataxin (SETX), mRNA. RefSeq Summary (NM_015046): 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]. Transcript (Including UTRs) Position: hg19 chr9:135,136,827-135,230,372 Size: 93,546 Total Exon Count: 26 Strand: - Coding Region Position: hg19 chr9:135,139,626-135,224,815 Size: 85,190 Coding Exon Count: 24
ID:SETX_HUMAN DESCRIPTION: RecName: Full=Probable helicase senataxin; EC=3.6.4.-; AltName: Full=Amyotrophic lateral sclerosis 4 protein; AltName: Full=SEN1 homolog; FUNCTION: Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Note=May be detected in the nucleolus only in cycling cells (By similarity). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. TISSUE SPECIFICITY: 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). DISEASE: Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]; also known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha- fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia. DISEASE: Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]. ALS4 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent- onset form characterized by slow disease progression and the sparing of bulbar and respiratory muscles. SIMILARITY: Belongs to the DNA2/NAM7 helicase family. SEQUENCE CAUTION: Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97857.1; Type=Frameshift; Positions=1626; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SETX";
Body Height Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z333
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
