EuRBPDB

Description

RBDs

RBPome

Literatures

Expression

Transcripts

Gene Model

Phenotypes

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000107290 (Gene tree)
Gene ID: 23064
Gene Symbol: SETX
Alias: KIAA0625|AOA2|Sen1|ALS4|SCAR1
Full Name: senataxin
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Minus strand
Length: 95,371 bases
Position: chr9:132,261,356-132,356,726
Accession: 445
RBP type: canonical RBP
Summary: 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-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]

RNA binding domains(RBDs)

Protein ID	Domain	Pfam ID	E-value	Domain number	Total number
ENSP00000409143	UvrD-helicase	PF00580.21	6.5e-08	1	1
ENSP00000224140	UvrD-helicase	PF00580.21	0.00028	1	1

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
28245518	Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation.	Synapse	2017 May	Choudhury SD	doi: 10.1002/syn.21969
29725819	Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.	Acta Neuropathol	2018 Sep	Bennett CL	doi: 10.1007/s00401-018-1852-9
19515850	Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.	Hum Mol Genet	2009 Sep 15	Suraweera A	doi: 10.1093/hmg/ddp278
24244371	Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.	PLoS One	2013 Nov 11	Bennett CL	doi: 10.1371/journal.pone.0078837
27771483	Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.	J Mol Biol	2017 Oct 27	Groh M	doi: 10.1016/j.jmb.2016.10.021
29416069	Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations.	Nat Commun	2018 Feb 7	Cohen S	doi: 10.1038/s41467-018-02894-w.

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000464133	SETX-203	631	-	-	- (aa)	-	-
ENST00000436441	SETX-202	5730	XM_017014496	ENSP00000409143	948 (aa)	XP_016869985	X6RI79
ENST00000477049	SETX-205	4067	-	-	- (aa)	-	-
ENST00000474172	SETX-204	719	-	-	- (aa)	-	-
ENST00000224140	SETX-201	11100	XM_005272172	ENSP00000224140	2677 (aa)	XP_005272229	Q7Z333

Gene Model

Click here to download ENSG00000107290's gene model file

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000107290	Body Height	5.94457947962116E-5	17903300
ENSG00000107290	Lupus Erythematosus, Systemic	1.06E-5	18204446

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000107290's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000107290	SETX	76	44.054	ENSAMXG00000014406	-	85	42.631	Astyanax_mexicanus
ENSG00000107290	SETX	100	89.557	ENSCJAG00000018245	SETX	100	89.258	Callithrix_jacchus
ENSG00000107290	SETX	90	80.070	ENSCAFG00020024489	SETX	100	82.091	Canis_lupus_dingo
ENSG00000107290	SETX	84	80.605	ENSTSYG00000030808	-	92	80.605	Carlito_syrichta
ENSG00000107290	SETX	100	78.714	ENSCPOG00000001492	SETX	100	71.561	Cavia_porcellus
ENSG00000107290	SETX	99	79.325	ENSCLAG00000012582	SETX	99	73.976	Chinchilla_lanigera
ENSG00000107290	SETX	99	67.300	ENSETEG00000008111	-	74	91.898	Echinops_telfairi
ENSG00000107290	SETX	91	82.658	ENSECAG00000012019	SETX	99	82.658	Equus_caballus
ENSG00000107290	SETX	80	42.693	ENSELUG00000022536	-	83	42.714	Esox_lucius
ENSG00000107290	SETX	100	81.349	ENSFCAG00000007102	SETX	100	77.749	Felis_catus
ENSG00000107290	SETX	80	67.013	ENSFALG00000001464	SETX	89	67.013	Ficedula_albicollis
ENSG00000107290	SETX	100	97.273	ENSGGOG00000027664	SETX	100	97.273	Gorilla_gorilla
ENSG00000107290	SETX	79	44.778	ENSIPUG00000006685	setx	85	45.008	Ictalurus_punctatus
ENSG00000107290	SETX	83	55.593	ENSLOCG00000004264	SETX	91	55.760	Lepisosteus_oculatus
ENSG00000107290	SETX	71	91.207	ENSLAFG00000017327	-	100	81.119	Loxodonta_africana
ENSG00000107290	SETX	97	76.247	ENSMOCG00000000848	Setx	99	68.000	Microtus_ochrogaster
ENSG00000107290	SETX	100	78.864	MGP_PahariEiJ_G0024821	Setx	100	72.080	Mus_pahari
ENSG00000107290	SETX	99	93.150	ENSNLEG00000012839	SETX	100	93.150	Nomascus_leucogenys
ENSG00000107290	SETX	96	79.235	ENSOCUG00000005616	SETX	96	71.528	Oryctolagus_cuniculus
ENSG00000107290	SETX	99	85.338	ENSOGAG00000013387	SETX	99	80.751	Otolemur_garnettii
ENSG00000107290	SETX	100	98.245	ENSPPAG00000004108	SETX	100	98.245	Pan_paniscus
ENSG00000107290	SETX	100	81.560	ENSPPRG00000012867	SETX	100	77.786	Panthera_pardus
ENSG00000107290	SETX	100	81.560	ENSPTIG00000021101	SETX	100	77.646	Panthera_tigris_altaica
ENSG00000107290	SETX	100	98.282	ENSPTRG00000021495	SETX	100	98.282	Pan_troglodytes
ENSG00000107290	SETX	75	49.256	ENSPKIG00000025162	SETX	84	49.587	Paramormyrops_kingsleyae
ENSG00000107290	SETX	59	93.103	ENSSARG00000002336	-	63	93.103	Sorex_araneus
ENSG00000107290	SETX	88	66.519	ENSSPUG00000016332	SETX	88	70.494	Sphenodon_punctatus
ENSG00000107290	SETX	93	86.631	ENSSSCG00000005724	SETX	99	76.198	Sus_scrofa
ENSG00000107290	SETX	79	71.833	ENSTGUG00000005117	SETX	86	71.833	Taeniopygia_guttata
ENSG00000107290	SETX	84	86.507	ENSUMAG00000016729	SETX	92	88.129	Ursus_maritimus
ENSG00000107290	SETX	79	63.123	ENSXETG00000006254	setx	95	63.411	Xenopus_tropicalis

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000165	MAPK cascade	21576111.	IDA	Process
GO:0000228	nuclear chromosome	24105744.	IDA	Component
GO:0000781	chromosome, telomeric region	-	IEA	Component
GO:0001147	transcription termination site sequence-specific DNA binding	21873635.	IBA	Function
GO:0001147	transcription termination site sequence-specific DNA binding	21700224.	IDA	Function
GO:0003677	DNA binding	17562789.	IC	Function
GO:0003678	DNA helicase activity	17562789.	TAS	Function
GO:0003723	RNA binding	21873635.	IBA	Function
GO:0005515	protein binding	19515850.20936779.24105744.24244371.26700805.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005634	nucleus	17562789.21576111.	IDA	Component
GO:0005654	nucleoplasm	17562789.	IDA	Component
GO:0005730	nucleolus	-	IEA	Component
GO:0005737	cytoplasm	17562789.21576111.	IDA	Component
GO:0006302	double-strand break repair	17562789.	IDA	Process
GO:0006310	DNA recombination	-	IEA	Process
GO:0006353	DNA-templated transcription, termination	26700805.	IMP	Process
GO:0006369	termination of RNA polymerase II transcription	21873635.	IBA	Process
GO:0006376	mRNA splice site selection	19515850.	IMP	Process
GO:0006396	RNA processing	17562789.	TAS	Process
GO:0006974	cellular response to DNA damage stimulus	17562789.	IDA	Process
GO:0007283	spermatogenesis	-	IEA	Process
GO:0007623	circadian rhythm	-	IEA	Process
GO:0008543	fibroblast growth factor receptor signaling pathway	21576111.	IDA	Process
GO:0010976	positive regulation of neuron projection development	21576111.	IDA	Process
GO:0016604	nuclear body	21873635.	IBA	Component
GO:0016604	nuclear body	-	IDA	Component
GO:0030424	axon	21576111.	IDA	Component
GO:0030426	growth cone	21576111.	IDA	Component
GO:0032508	DNA duplex unwinding	-	IEA	Process
GO:0033120	positive regulation of RNA splicing	19515850.	IMP	Process
GO:0034599	cellular response to oxidative stress	17562789.	IDA	Process
GO:0042802	identical protein binding	24244371.	IPI	Function
GO:0043066	negative regulation of apoptotic process	21576111.	IDA	Process
GO:0043491	protein kinase B signaling	21576111.	IDA	Process
GO:0044344	cellular response to fibroblast growth factor stimulus	21576111.	IDA	Process
GO:0045171	intercellular bridge	-	IDA	Component
GO:0045944	positive regulation of transcription by RNA polymerase II	19515850.	IMP	Process
GO:0060566	positive regulation of DNA-templated transcription, termination	19515850.	IMP	Process
GO:0070301	cellular response to hydrogen peroxide	17562789.	IDA	Process
GO:0071300	cellular response to retinoic acid	21576111.	IDA	Process
GO:2000144	positive regulation of DNA-templated transcription, initiation	21700224.	IMP	Process
GO:2000806	positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled	21700224.	IMP	Process