SETX report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0032508Biological processDNA duplex unwinding
GO_0006376Biological processmRNA splice site recognition
GO_0007283Biological processspermatogenesis
GO_0010976Biological processpositive regulation of neuron projection development
GO_0033120Biological processpositive regulation of RNA splicing
GO_0006396Biological processRNA processing
GO_0006302Biological processdouble-strand break repair
GO_0006974Biological processDNA damage response
GO_0007623Biological processcircadian rhythm
GO_0006369Biological processtermination of RNA polymerase II transcription
GO_0060566Biological processpositive regulation of termination of DNA-templated transcription
GO_0034599Biological processcellular response to oxidative stress
GO_0030154Biological processcell differentiation
GO_2000144Biological processpositive regulation of DNA-templated transcription initiation
GO_2000806Biological processpositive regulation of termination of RNA polymerase II transcription, poly(A)-coupled
GO_0006310Biological processDNA recombination
GO_0006353Biological processDNA-templated transcription termination
GO_0007399Biological processnervous system development
GO_0070301Biological processcellular response to hydrogen peroxide
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0005730Cellular componentnucleolus
GO_0000228Cellular componentnuclear chromosome
GO_0005654Cellular componentnucleoplasm
GO_0045171Cellular componentintercellular bridge
GO_0016604Cellular componentnuclear body
GO_0030426Cellular componentgrowth cone
GO_0005737Cellular componentcytoplasm
GO_0030424Cellular componentaxon
GO_0000781Cellular componentchromosome, telomeric region
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0016787Molecular functionhydrolase activity
GO_0042802Molecular functionidentical protein binding
GO_0003678Molecular functionDNA helicase activity
GO_0005524Molecular functionATP binding
GO_0003723Molecular functionRNA binding
GO_0005515Molecular functionprotein binding
GO_0001147Molecular functiontranscription termination site sequence-specific DNA binding

IV. Literature review

[source]
Gene nameSETX
Protein nameSenataxin isoform 2
Senataxin
Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin)
Senataxin isoform 1
SynonymsALS4
KIAA0625
SCAR1
DescriptionFUNCTION: Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription . Contributes to the mRNA splicing efficiency and splice site selection . Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination . Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress . In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage . Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription . Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis . .

AccessionsENST00000224140.6 [Q7Z333-1]
ENST00000436441.5
A0A0S2Z520
Q7Z333
X6RI79
A0A0S2Z550