Entity Details

Primary name SETX_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z333
EntryNameSETX_HUMAN
FullNameProbable helicase senataxin
TaxID9606
Evidenceevidence at protein level
Length2677
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesSETX

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0000228 nuclear chromosome
GO:0000781 chromosome, telomeric region
GO:0001147 transcription termination site sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003723 RNA binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0006302 double-strand break repair
GO:0006310 DNA recombination
GO:0006353 DNA-templated transcription, termination
GO:0006369 termination of RNA polymerase II transcription
GO:0006376 mRNA splice site selection
GO:0006396 RNA processing
GO:0006974 cellular response to DNA damage stimulus
GO:0007283 spermatogenesis
GO:0007399 nervous system development
GO:0007623 circadian rhythm
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0010976 positive regulation of neuron projection development
GO:0016604 nuclear body
GO:0030154 cell differentiation
GO:0030424 axon
GO:0030426 growth cone
GO:0033120 positive regulation of RNA splicing
GO:0034599 cellular response to oxidative stress
GO:0042802 identical protein binding
GO:0043066 negative regulation of apoptotic process
GO:0043491 protein kinase B signaling
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045171 intercellular bridge
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0060566 positive regulation of DNA-templated transcription, termination
GO:0070301 cellular response to hydrogen peroxide
GO:0071300 cellular response to retinoic acid
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2000806 positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled

Subcellular Location

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Subcellular Location
Cell projection
Chromosome
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR041677 DNA2/NAM7 helicase, helicase domainDomainDomain
IPR041679 DNA2/NAM7 helicase-like, C-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
606002 OMIMSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2)A form of spinocerebellar ataxia, 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. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia. The disease is caused by variants affecting the gene represented in this entry.
602433 OMIMAmyotrophic lateral sclerosis 4 (ALS4)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. The disease is caused by variants affecting the gene represented in this entry.