SETX information

SETX
Identifiers
Aliases	SETX, ALS4, AOA2, SCAR1, bA479K20.2, senataxin, Sen1, SCAN2, STEX
External IDs	OMIM: 608465; MGI: 2443480; HomoloGene: 41003; GeneCards: SETX; OMA:SETX - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	132,354,986 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	29,072,483 bp
RNA expression pattern
	Top expressed in
	right testis; ; Achilles tendon; ; left testis; ; white blood cell; ; monocyte; ; granulocyte; ; right lobe of thyroid gland; ; testicle; ; spleen; ; left lobe of thyroid gland;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; hand; ; superior cervical ganglion; ; mesenteric lymph nodes; ; Gonadal ridge; ; substantia nigra; ; condyle; ; foot;
	More reference expression data
	; ;
	More reference expression data
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; RNA binding;
Cellular component	nucleolus; telomere; nuclear chromosome; chromosome; cell projection; cytoplasm; growth cone; nucleoplasm; axon; nucleus; nuclear body; intercellular bridge;
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 by RNA polymerase II; MAPK cascade; cellular response to DNA damage stimulus; DNA duplex unwinding; double-strand break repair;
	Sources:Amigo / QuickGO
Orthologs
	23064
	269254
	ENSG00000107290
	ENSMUSG00000043535
	Q7Z333
	A2AKX3
	NM_015046; NM_001351527; NM_001351528
	NM_198033; NM_177365
	NP_055861; NP_001338456; NP_001338457
	NP_932150
	Wikidata
View/Edit Human	View/Edit Mouse

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.^[5]^[6]^[7]

This gene encodes a protein named senataxin, a 302kDa protein^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107290 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043535 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, et al. (March 1998). "Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34". American Journal of Human Genetics. 62 (3): 633–40. doi:10.1086/301769. PMC 1376963. PMID 9497266.
^ Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, et al. (November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34". American Journal of Human Genetics. 67 (5): 1320–6. doi:10.1016/S0002-9297(07)62962-0. PMC 1288574. PMID 11022012.
^ "Entrez Gene: SETX senataxin".
^ Groh M, Albulescu LO, Cristini A, Gromak N (October 2017). "Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration". Journal of Molecular Biology. 429 (21): 3181–3195. doi:10.1016/j.jmb.2016.10.021. PMID 27771483.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107290 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000043535 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9497266-5] Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, et al. (March 1998). "Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34". American Journal of Human Genetics. 62 (3): 633–40. doi:10.1086/301769. PMC 1376963. PMID 9497266.

[pmid11022012-6] Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, et al. (November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34". American Journal of Human Genetics. 67 (5): 1320–6. doi:10.1016/S0002-9297(07)62962-0. PMC 1288574. PMID 11022012.

[entrez-7] "Entrez Gene: SETX senataxin".

[8] Groh M, Albulescu LO, Cristini A, Gromak N (October 2017). "Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration". Journal of Molecular Biology. 429 (21): 3181–3195. doi:10.1016/j.jmb.2016.10.021. PMID 27771483.

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