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FLASH GENE

Symbol

SETX

contributors: mct/npt - updated : 16-09-2016

HGNC name	senataxin
HGNC id	445

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALS4 familial amyotrophic lateral sclerosis 4 AOA2 ataxia-ocular apraxia 2, early onset
Location	9q34.13      Physical location : 135.136.827 - 135.230.372
Synonym name	transcriptional transactivator senataxin
	SEN1 homolog
Synonym symbol(s)	203M2.2, DKFZp781B151, FLJ12840, FLJ43459, KIAA0625, SCAR1, bA479K20.2, AOA2
EC.number	3.6.1.-

DNA

TYPE	functioning gene
STRUCTURE	95.29 kb     26 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015046 26 - 11016 NP_055861 302.7 2677 - 2004 14770181

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon     Lymphoid/Immune lymph node           spleen         Nervous brain         Reproductive female system breast mammary gland       male system testis       Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C terminus with a classical seven-motif domain found in the superfamily I of helicases, suggesting that it is a putative DNA/RNA helicase (Suraweera 2009)

HOMOLOGY

interspecies

homolog to yeast S.Pombe Sen1p

intraspecies

homolog to RENT1,IGHMBP2

Homologene

FAMILY

DNA2/NAM7 helicase family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus
text	SETX and EXOSC9 co-localize in nuclear foci that constitute sites of R-loop formation generated by transcription and replication machinery collisions

basic FUNCTION	involved in splicing mechanism
	eliminating the production of nonsense-containing RNAs, essential for embryonic viability
	involved in the DNA damage response (Suraweera 2007)
	play a role in the response to oxidative stress, and plays a role in coordinating transcriptional events, in addition to its role in DNA repair (Suraweera 2009)
	possible involvement of SETX in telomere stability
	role of senataxin in modulating the expression levels and signalling activity of fibroblast growth factor 8
	acts to resolve these R-loop structures and by so doing allows access of the 5 prime-3 prime exonuclease XRN2 at 3 prime cleavage poly(A) sites
	colocalizes with TP53BP1, a key DNA damage response protein, and with other factors involved in DNA repair
	is targeted to R loops, where it plays an important role at the interface of transcription and the DNA damage response
	plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response
	is essential for spermatogenesis and it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation
	key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome
	involved in the response to oxidative stress and likely resolve R loops formed at transcription termination sites or at sites of collisions between the transcription and replication machineries

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	interacts with several proteins that function in different facets of RNA metabolism (Suraweera 2009)
	also interacts with RNA polymerase II (there is significantly less RNA polymerase II binding to the SOD1, IMPDH2, CYC and RPL36 genomic loci in AOA2) (Suraweera 2009)
	key role of senataxin in neuronal differentiation through FGF8 signalling
	EXOSC9 is a core component of the exosome, a SETX-interacting protein and this interaction depends on modification of SETX by sumoylation
	FAM120B functions with SETX in a pathway necessary for resistance to interstrand DNA cross-links (ICLs)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AOA2 , ALS4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS