InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SETX

Summary

InnateDB Protein

IDBP-90247.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SETX

Protein Name

senataxin

Synonyms

ALS4; AOA2; bA479K20.2; SCAR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000224140

InnateDB Gene

IDBG-90245 (SETX)

Protein Structure

UniProt Annotation

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}.

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}.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003678	DNA helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0006302	double-strand break repair
GO:0006369	termination of RNA polymerase II transcription
GO:0006396	RNA processing
GO:0007623	circadian rhythm
GO:0008219	cell death
GO:0032508	DNA duplex unwinding