Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	51013
Gene name	Exosome component 1
Gene symbol	EXOSC1
Synonyms (NCBI Gene)	CGI-108CSL4Csl4pPCH1FSKI4Ski4pp13
Chromosome	10
Chromosome location	10q24.1
Summary	This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein i

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050366	hsa-miR-24-3p	CLASH	23622248
MIRT046834	hsa-miR-222-3p	CLASH	23622248
MIRT043724	hsa-miR-342-3p	CLASH	23622248
MIRT973055	hsa-miR-103a	CLIP-seq
MIRT973056	hsa-miR-106a	CLIP-seq
MIRT973057	hsa-miR-106b	CLIP-seq
MIRT973058	hsa-miR-107	CLIP-seq
MIRT973059	hsa-miR-128	CLIP-seq
MIRT973060	hsa-miR-1299	CLIP-seq
MIRT973061	hsa-miR-15a	CLIP-seq
MIRT973062	hsa-miR-15b	CLIP-seq
MIRT973063	hsa-miR-16	CLIP-seq
MIRT973064	hsa-miR-17	CLIP-seq
MIRT973065	hsa-miR-195	CLIP-seq
MIRT973066	hsa-miR-20a	CLIP-seq
MIRT973067	hsa-miR-20b	CLIP-seq
MIRT973068	hsa-miR-27a	CLIP-seq
MIRT973069	hsa-miR-27b	CLIP-seq
MIRT973070	hsa-miR-302a	CLIP-seq
MIRT973071	hsa-miR-302b	CLIP-seq
MIRT973072	hsa-miR-302c	CLIP-seq
MIRT973073	hsa-miR-302d	CLIP-seq
MIRT973074	hsa-miR-302e	CLIP-seq
MIRT973075	hsa-miR-3127-3p	CLIP-seq
MIRT973076	hsa-miR-323b-3p	CLIP-seq
MIRT973077	hsa-miR-372	CLIP-seq
MIRT973078	hsa-miR-373	CLIP-seq
MIRT973079	hsa-miR-3934	CLIP-seq
MIRT973080	hsa-miR-424	CLIP-seq
MIRT973081	hsa-miR-4328	CLIP-seq
MIRT973082	hsa-miR-4433	CLIP-seq
MIRT973083	hsa-miR-4459	CLIP-seq
MIRT973084	hsa-miR-4640-3p	CLIP-seq
MIRT973085	hsa-miR-4687-3p	CLIP-seq
MIRT973086	hsa-miR-4717-3p	CLIP-seq
MIRT973087	hsa-miR-4731-5p	CLIP-seq
MIRT973088	hsa-miR-4763-5p	CLIP-seq
MIRT973089	hsa-miR-4768-3p	CLIP-seq
MIRT973090	hsa-miR-4779	CLIP-seq
MIRT973091	hsa-miR-4782-5p	CLIP-seq
MIRT973092	hsa-miR-4795-5p	CLIP-seq
MIRT973093	hsa-miR-4796-3p	CLIP-seq
MIRT973094	hsa-miR-497	CLIP-seq
MIRT973095	hsa-miR-501-5p	CLIP-seq
MIRT973096	hsa-miR-512-3p	CLIP-seq
MIRT973097	hsa-miR-516b	CLIP-seq
MIRT973098	hsa-miR-519d	CLIP-seq
MIRT973099	hsa-miR-520a-3p	CLIP-seq
MIRT973100	hsa-miR-520b	CLIP-seq
MIRT973101	hsa-miR-520c-3p	CLIP-seq
MIRT973102	hsa-miR-520d-3p	CLIP-seq
MIRT973103	hsa-miR-520d-5p	CLIP-seq
MIRT973104	hsa-miR-520e	CLIP-seq
MIRT973105	hsa-miR-520g	CLIP-seq
MIRT973106	hsa-miR-520h	CLIP-seq
MIRT973107	hsa-miR-524-5p	CLIP-seq
MIRT973108	hsa-miR-548t	CLIP-seq
MIRT973109	hsa-miR-548u	CLIP-seq
MIRT973110	hsa-miR-587	CLIP-seq
MIRT973111	hsa-miR-875-3p	CLIP-seq
MIRT973112	hsa-miR-93	CLIP-seq
MIRT1988329	hsa-miR-298	CLIP-seq
MIRT1988330	hsa-miR-888	CLIP-seq
MIRT973055	hsa-miR-103a	CLIP-seq
MIRT973058	hsa-miR-107	CLIP-seq
MIRT973061	hsa-miR-15a	CLIP-seq
MIRT973062	hsa-miR-15b	CLIP-seq
MIRT973063	hsa-miR-16	CLIP-seq
MIRT973065	hsa-miR-195	CLIP-seq
MIRT973076	hsa-miR-323b-3p	CLIP-seq
MIRT973079	hsa-miR-3934	CLIP-seq
MIRT973080	hsa-miR-424	CLIP-seq
MIRT2222765	hsa-miR-4694-5p	CLIP-seq
MIRT973094	hsa-miR-497	CLIP-seq
MIRT2222766	hsa-miR-510	CLIP-seq
MIRT2222767	hsa-miR-512-5p	CLIP-seq
MIRT973109	hsa-miR-548u	CLIP-seq
MIRT1988330	hsa-miR-888	CLIP-seq
MIRT1988330	hsa-miR-888	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000176	Component	Nuclear exosome (RNase complex)	IBA
GO:0000176	Component	Nuclear exosome (RNase complex)	NAS	20531386
GO:0000177	Component	Cytoplasmic exosome (RNase complex)	NAS	20531386
GO:0000178	Component	Exosome (RNase complex)	IDA	20531389
GO:0000178	Component	Exosome (RNase complex)	IEA
GO:0000178	Component	Exosome (RNase complex)	NAS	11812149, 20531386
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	11812149
GO:0004532	Function	RNA exonuclease activity	IDA	17174896
GO:0005515	Function	Protein binding	IPI	11812149, 12419256, 12788944, 15231747, 19060904, 20531386, 21791617, 24981860, 25043052, 25416956, 26496610, 27107012, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	20531386
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	11812149, 20531386
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	20531386
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006396	Process	RNA processing	IDA	17174896, 20531386
GO:0006396	Process	RNA processing	IEA
GO:0006401	Process	RNA catabolic process	IDA	17174896, 20531386
GO:0101019	Component	Nucleolar exosome (RNase complex)	NAS	20531386

MIM	HGNC	e!Ensembl
606493	17286	ENSG00000171311

Q9Y3B2

Protein name

Exosome complex component CSL4 (Exosome component 1)

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
PF10447	EXOSC1	89 → 135	Exosome component EXOSC1/CSL4	Domain
PF14382	ECR1_N	8 → 43	Exosome complex exonuclease RRP4 N-terminal region	Domain

Sequence

MAPPVRYCIPGERLCNLEEGSPGSGTYTRHGYIFSSLAGCLMKSSENGALPVVSVVRETE
SQLLPDVGAIVTCKVSSINSRFAKVHILYVGSMPLKNSFRGTIRKEDVRATEKDKVEIYK
SFRPGDIVLAKVISLGDAQSNYLLTTAENELGVVVAHSESGIQMVPISWCEMQCPKTHTK
EFRKVARVQPEFLQT

Sequence length

195

Interactions

View interactions

KEGG Pathway	Reactome Pathway
RNA degradation	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pontocerebellar hypoplasia, type 1F	Pathogenic	rs2133168246	RCV001380415	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
VASCULAR BRAIN INJURY	—	GWAS catalog	35121771	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27876072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22488912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	37024942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	37024942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27876072		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EXOSC8	1	["Pontocerebellar hypoplasia"]	7	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol","mRNA decay by 3' to 5' exoribonuclease","ATF4 activates genes in response to endoplasmic reticulum stress","Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA","Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA","KSRP (KHSRP) binds and destabilizes mRNA"]	3	["ClinVar (Pontocerebellar hypoplasia)","Disgenet (Pontocerebellar hypoplasia)","HPO (Pontocerebellar hypoplasia)"]
EXOSC9	1	["Pontocerebellar hypoplasia"]	7	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol","mRNA decay by 3' to 5' exoribonuclease","ATF4 activates genes in response to endoplasmic reticulum stress","Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA","Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA","KSRP (KHSRP) binds and destabilizes mRNA"]	3	["ClinVar (Pontocerebellar hypoplasia)","Disgenet (Pontocerebellar hypoplasia)","HPO (Pontocerebellar hypoplasia)"]
EXOSC3	1	["Pontocerebellar hypoplasia"]	7	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol","mRNA decay by 3' to 5' exoribonuclease","ATF4 activates genes in response to endoplasmic reticulum stress","Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA","Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA","KSRP (KHSRP) binds and destabilizes mRNA"]	3	["ClinVar (Pontocerebellar hypoplasia)","Disgenet (Pontocerebellar hypoplasia)","HPO (Pontocerebellar hypoplasia)"]
VPS51	1	["Pontocerebellar hypoplasia"]	0	[]	4	["GenCC (Pontocerebellar hypoplasia)","ClinVar (Pontocerebellar hypoplasia)","Disgenet (Pontocerebellar hypoplasia)","HPO (Pontocerebellar hypoplasia)"]
EXOSC6	0	[]	7	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol","mRNA decay by 3' to 5' exoribonuclease","ATF4 activates genes in response to endoplasmic reticulum stress","Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA","Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA","KSRP (KHSRP) binds and destabilizes mRNA"]	0	[]

EXOSC1 (exosome component 1)

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