SETX

SETX
Identifiers
Aliases	SETX, ALS4, AOA2, SCAR1, bA479K20.2, senataxin
External IDs	MGI: 2443480 HomoloGene: 41003 GeneCards: SETX
Gene ontology Molecular function • transcription termination site sequence-specific DNA binding • nucleotide binding • protein binding • ATP binding • helicase activity • DNA helicase activity • identical protein binding • hydrolase activity • DNA binding Cellular component • nucleolus • chromosome, telomeric region • nuclear chromosome • chromosome • cell projection • cytoplasm • growth cone • nucleoplasm • axon • nucleus Biological process • cellular response to fibroblast growth factor stimulus • positive regulation of DNA-templated transcription, termination • fibroblast growth factor receptor signaling pathway • positive regulation of RNA splicing • DNA recombination • cellular response to retinoic acid • nervous system development • positive regulation of neuron projection development • DNA repair • RNA processing • termination of RNA polymerase II transcription • cell differentiation • DNA-templated transcription, termination • mRNA splice site selection • cellular response to hydrogen peroxide • positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled • negative regulation of apoptotic process • positive regulation of DNA-templated transcription, initiation • circadian rhythm • cellular response to oxidative stress • spermatogenesis • protein kinase B signaling • rhythmic process • positive regulation of transcription from RNA polymerase II promoter • MAPK cascade • cellular response to DNA damage stimulus • double-strand break repair • DNA duplex unwinding Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23064	269254
Ensembl	ENSG00000107290	ENSMUSG00000043535
UniProt	Q7Z333	A2AKX3
RefSeq (mRNA)	NM_015046	NM_198033
RefSeq (protein)	NP_055861	NP_932150.2 NP_932150
Location (UCSC)	Chr 9: 132.26 – 132.35 Mb	Chr 2: 29.12 – 29.18 Mb
PubMed search

23064

269254

ENSG00000107290

ENSMUSG00000043535

Q7Z333

A2AKX3

NM_015046

NM_198033

NP_055861

NP_932150.2
NP_932150

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.

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 oculomotor apraxia type 2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).

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