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InnateDB Protein
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IDBP-383034.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SETX
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Protein Name
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senataxin
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Synonyms
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ALS4; AOA2; bA479K20.2; SCAR1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000409143
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InnateDB Gene
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IDBG-90245 (SETX)
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Protein Structure
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| Function |
Probable helicase involved in RNA maturation. Required for the 3' transcriptional termination of PER1 and CRY2, plays an important role in the circadian rhythm regulation. Involved in DNA double-strand breaks damage response generated by oxidative stress. {ECO:0000269PubMed:14770181, ECO:0000269PubMed:17562789}.
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| Subcellular Localization |
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. {ECO:0000250}.
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| Disease Associations |
Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002]: 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. {ECO:0000269PubMed:14770181, ECO:0000269PubMed:16644229, ECO:0000269PubMed:16717225, ECO:0000269PubMed:17096168}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]: A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. 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 the cases. {ECO:0000269PubMed:15106121}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| 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). {ECO:0000269PubMed:14770181, ECO:0000269PubMed:15106121, ECO:0000269PubMed:16644229, ECO:0000269PubMed:17562789}.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
10
[view]
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| Protein-Protein |
10
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| Predicted by orthology |
| Total |
3 [view]
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Molecular Function |
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR014016
UvrD-like Helicase, ATP-binding domain
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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| PFAM |
PF00580
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
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| PhosphoSite |
PhosphoSite-Q7Z333
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| TrEMBL |
X6RI79
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| UniProt Splice Variant |
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| Entrez Gene |
23064
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| UniGene |
Hs.460317
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| RefSeq |
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| HUGO |
HGNC:445
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| OMIM |
608465
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| CCDS |
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| HPRD |
07622
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| IMGT |
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| EMBL |
AK302394
AL159997
AL353701
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| GenPept |
BAG63708
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Version 5.4