EXOSC8 (exosome component 8)

Gene

• Entrez ID: 11340
• Gene name: Exosome component 8
• Gene symbol: EXOSC8
• Synonyms: CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9
• Chromosome: 13
• Chromosome location: 13q13.3
• Summary: This gene encodes a 3`-5` exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is fo

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030408	hsa-miR-24-3p	Microarray	19748357
MIRT973355	hsa-miR-192	CLIP-seq
MIRT973356	hsa-miR-215	CLIP-seq
MIRT973357	hsa-miR-299-5p	CLIP-seq
MIRT973358	hsa-miR-3688-3p	CLIP-seq
MIRT973359	hsa-miR-522	CLIP-seq
MIRT973360	hsa-miR-548ac	CLIP-seq
MIRT973361	hsa-miR-548ae	CLIP-seq
MIRT973362	hsa-miR-548aj	CLIP-seq
MIRT973363	hsa-miR-548am	CLIP-seq
MIRT973364	hsa-miR-548d-3p	CLIP-seq
MIRT973365	hsa-miR-548x	CLIP-seq
MIRT973366	hsa-miR-548z	CLIP-seq
MIRT2449007	hsa-miR-2052	CLIP-seq
MIRT2449008	hsa-miR-4666-3p	CLIP-seq
MIRT2449009	hsa-miR-4762-5p	CLIP-seq
MIRT2449010	hsa-miR-520d-5p	CLIP-seq
MIRT2449011	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000176	Component	Nuclear exosome (RNase complex)	IBA	21873635
GO:0000177	Component	Cytoplasmic exosome (RNase complex)	IBA	21873635
GO:0000178	Component	Exosome (RNase complex)	IDA	20531389
GO:0000467	Process	Exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	21873635
GO:0001650	Component	Fibrillar center	IDA
GO:0004532	Function	Exoribonuclease activity	IDA	17174896
GO:0005515	Function	Protein binding	IPI	12419256, 15231747, 20531389, 21255825, 24981860, 25043052, 25416956, 25910212, 26496610, 26871637, 28514442, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	17545563
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005737	Component	Cytoplasm	IDA	17545563
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	TAS
GO:0008150	Process	Biological_process	ND
GO:0016075	Process	RRNA catabolic process	IBA	21873635
GO:0034427	Process	Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'	IBA	21873635
GO:0034473	Process	U1 snRNA 3'-end processing	IBA	21873635
GO:0034475	Process	U4 snRNA 3'-end processing	IBA	21873635
GO:0034476	Process	U5 snRNA 3'-end processing	IBA	21873635
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IDA	16912217
GO:0042802	Function	Identical protein binding	IPI	15231747, 25416956, 32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043928	Process	Exonucleolytic catabolism of deadenylated mRNA	IBA	21873635
GO:0043928	Process	Exonucleolytic catabolism of deadenylated mRNA	TAS
GO:0071028	Process	Nuclear mRNA surveillance	IBA	21873635
GO:0071035	Process	Nuclear polyadenylation-dependent rRNA catabolic process	IBA	21873635
GO:0071038	Process	Nuclear polyadenylation-dependent tRNA catabolic process	IBA	21873635
GO:0071042	Process	Nuclear polyadenylation-dependent mRNA catabolic process	IBA	21873635

Other IDs

• MIM: 606019
• HGNC: 17035
• e!Ensembl: ENSG00000120699

Protein

• UniProt ID: Q96B26
• Protein name: Exosome complex component RRP43 (Exosome component 8) (Opa-interacting protein 2) (OIP-2) (Ribosomal RNA-processing protein 43) (p9)
• Protein function: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturat
• PDB: 2NN6, 6D6Q, 6D6R, 6H25, 9G8M, 9G8N, 9G8O, 9G8P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01138	RNase_PH	31 → 166		Domain
  PF03725	RNase_PH_C	191 → 258		Domain

• Sequence:

  MAAGFKTVEPLEYYRRFLKENCRPDGRELGEFRTTTVNIGSISTADGSALVKLGNTTVIC
  GVKAEFAAPSTDAPDKGYVVPNVDLPPLCSSRFRSGPPGEEAQVASQFIADVIENSQIIQ
  KEDLCISPGKLVWVLYCDLICLDYDGNILDACTFALLAALKNVQLPEVTINEETALAEVN
  LKKKSYLNIRTHPVATSFAVFDDTLLIVDPTGEEEHLATGTLTIVMDEEGKLCCLHKPGG
  SGLTGAKLQDCMSRAVTRHKEVKKLMDEVIKSMKPK

• Sequence length: 276

Pathways

KEGG:

RNA degradation

Reactome:

ATF4 activates genes in response to endoplasmic reticulum stress
mRNA decay by 3' to 5' exoribonuclease
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
KSRP (KHSRP) binds and destabilizes mRNA
Major pathway of rRNA processing in the nucleolus and cytosol

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C	rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426, rs398122918, rs587780333, rs374550999, rs587777391, rs587777392, rs587777393, rs587777394, rs587777395, rs587777465, rs587777466, rs587777616, rs606231285, rs587784476, rs886037738, rs886037739, rs730880294, rs886037740, rs730882145, rs746260871, rs796052019, rs371295780, rs772731615, rs797046052, rs797046051, rs756696262, rs797045567, rs797046057, rs797046054, rs797046055, rs863224183, rs199835443, rs863224182, rs863224186, rs757743894, rs772887102, rs774923951, rs875989844, rs879253779, rs879253780, rs776969714, rs886041639, rs886041316, rs1057518749, rs1057518750, rs1057518887, rs1057519294, rs1057519296, rs1553730885, rs1570621473, rs371848318, rs777030573, rs758153898, rs1064795060, rs777942571, rs1554203400, rs779282547, rs1553230375, rs765088174, rs759922477, rs1554093168, rs755246924, rs1477347690, rs774157225, rs1420939606, rs781417096, rs780563835, rs772263867, rs139632595, rs768997239, rs200594402, rs1160669103, rs759331139, rs1566713184, rs753591864, rs769473411, rs1566696845, rs201467485, rs1258569046, rs1598480419, rs1309003036, rs759420180, rs199728745, rs773838753, rs1582712331, rs772146380, rs1223645705, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs1584071201, rs1582576986, rs1246937494, rs1650621772, rs760433806, rs1447478732, rs1472685858, rs1712612585, rs1256144022, rs774755297, rs752086581, rs1887100431, rs762979613, rs774877872, rs201386427, rs199862050	24989451, 24989451, 29656927
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral cortical atrophy	Cerebral cortical atrophy
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Respiratory failure	Respiratory Failure
Spastic tetraparesis	Spastic tetraparesis	rs35077384