EXOSC3 - exosome component 3 Gene

Homo sapiens

Also known as p10; PCH1B; RRP40; Rrp40p; CGI-102; hRrp-40; bA3J10.7

Gene ID: 51010 | Gene type: protein coding

About EXOSC3

Cytogenetic location: 9p13.2 Genomic coordinates (GRCh38): 9:37,779,714-37,785,092 (from NCBI)

This gene has 11 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 9.5), lymph node (RPKM 7.7) and 25 other tissues.

Summary

This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]

EXOSC3 Products(2)

mRNA	Protein	Name
NM_001002269.2	NP_001002269.1	exosome complex component RRP40 isoform 2
NM_016042.4	NP_057126.2	exosome complex component RRP40 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables RNA exonuclease activity	IDA IDA: Inferred from direct assay	17174896	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11719186	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in CUT catabolic process	IMP IMP: Inferred from mutant phenotype	19056938	GOA
involved in DNA deamination	IDA IDA: Inferred from direct assay	21255825	GOA
involved in RNA catabolic process	IDA IDA: Inferred from direct assay	17174896	GOA
involved in RNA processing	IDA IDA: Inferred from direct assay	17174896	GOA
involved in mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	11782436	GOA
involved in rRNA processing	IDA IDA: Inferred from direct assay	11110791	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17545563	GOA
part of cytoplasmic exosome (RNase complex)	IDA IDA: Inferred from direct assay	11110791	GOA
located in cytosol	IDA IDA: Inferred from direct assay	20531386	GOA
located in euchromatin	IMP IMP: Inferred from mutant phenotype	20699273	GOA
part of exosome (RNase complex)	IDA IDA: Inferred from direct assay	20531389	GOA
part of nuclear exosome (RNase complex)	IDA IDA: Inferred from direct assay	11110791	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	20531386	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17545563	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

exosome complex component RRP40

exosome complex exonuclease RRP40

EXOSC3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EXOSC3	Q9NQT5	EXOSC2	Homo sapiens	Q13868	Anti Bait CoIP	16396833
Intra	EXOSC3	Q9NQT5	EXOSC2	Homo sapiens	Q13868	Anti Tag CoIP	28514442
Intra	EXOSC3	Q9NQT5	EXOSC2	Homo sapiens	Q13868	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	EXOSC2	Homo sapiens	Q13868	Anti Tag CoIP	33961781
Intra	EXOSC3	Q9NQT5	EXOSC2	Homo sapiens	Q13868	TAP	24981860
Intra	EXOSC3	Q9NQT5	DIS3L	Homo sapiens	Q8TF46	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	DIS3L	Homo sapiens	Q8TF46	Anti Tag CoIP	33961781
Intra	EXOSC3	Q9NQT5	DIS3L	Homo sapiens	Q8TF46	TAP	24981860
Intra	EXOSC3	Q9NQT5	EXOSC4	Homo sapiens	Q9NPD3	Anti Tag CoIP	28514442
Intra	EXOSC3	Q9NQT5	EXOSC4	Homo sapiens	Q9NPD3	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	EXOSC5	Homo sapiens	Q9NQT4	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	EXOSC5	Homo sapiens	Q9NQT4	Anti Tag CoIP	28514442
Intra	EXOSC3	Q9NQT5	EXOSC5	Homo sapiens	Q9NQT4	Y2H	15231747
Intra	EXOSC3	Q9NQT5	EXOSC8	Homo sapiens	Q96B26	Y2H	15231747
Intra	EXOSC3	Q9NQT5	EXOSC8	Homo sapiens	Q96B26	Anti Tag CoIP	33961781
Intra	EXOSC3	Q9NQT5	EXOSC8	Homo sapiens	Q96B26	Anti Tag CoIP	28514442
Intra	EXOSC3	Q9NQT5	EXOSC8	Homo sapiens	Q96B26	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	EXOSC8	Homo sapiens	Q96B26	TAP	24981860
Intra	EXOSC3	Q9NQT5	DIS3	Homo sapiens	Q9Y2L1	Anti Tag CoIP	33961781
Intra	EXOSC3	Q9NQT5	DIS3	Homo sapiens	Q9Y2L1	Cosedimentation	20531386
Intra	EXOSC3	Q9NQT5	DIS3	Homo sapiens	Q9Y2L1	Anti Bait CoIP	20531389
Intra	EXOSC3	Q9NQT5	DDX17	Homo sapiens	Q92841	Anti Bait CoIP	18334637
Cross	EXOSC3	Q9NQT5	Zc3hav1	Rattus norvegicus	Q8K3Y6	Anti Bait CoIP	18334637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 1b

Pontocerebellar Hypoplasia Type 1b	PCH1B
Pontocerebellar Hypoplasia 1b	Hypoplasia, Pontocerebellar, Type 1b

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Hypotonia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Non-Syndromic Pontocerebellar Hypoplasia

Pontoneocerebellar Hypoplasia	Pch
Pontoneocerebellar Atrophy

Pontocerebellar Hypoplasia, Type 1c

PCH1C	Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1c	Pontocerebellar Hypoplasia 1c
Doid:0112334	Hypoplasia, Pontocerebellar, Type 1c

Pontocerebellar Hypoplasia, Type 1d

PCH1D	Pontocerebellar Hypoplasia Type 1d
Pontocerebellar Hypoplasia 1d	Doid:0112323
Hypoplasia, Pontocerebellar, Type 1d

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome	Syndromic Diarrhea
Tricho-Hepato-Enteric Syndrome	Sd/The
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome	THES1
Phenotypic Diarrhea	Thes
Phenotypic Diarrhea Of Infancy	Diarrhea, Syndromic
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa	Intractable Diarrhea With Phenotypic Anomalies
Syndromatic Diarrhea	Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5

Microcephaly 1, Primary, Autosomal Recessive

MCPH1	Premature Chromosome Condensation Syndrome
Pcc Syndrome	Primary Autosomal Recessive Microcephaly 1
Microcephaly, Primary Autosomal Recessive, 1	Premature Chromosome Condensation With Microcephaly And Mental Retardation
Microcephaly Vera	True Microcephaly
Microcephaly, Type 1, Primary, Autosomal Recessive	Autosomal Recessive Primary Microcephaly

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d	Pcca
PCH2D	Progressive Cerebello-Cerebral Atrophy
Cerebellocerebral Atrophy, Progressive	Pontocerebellar Hypoplasia 2d
Progressive Cerebellocerebral Atrophy	Hypoplasia, Pontocerebellar, Type 2d

Anterior Horn Cell Disease

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4	ALS4
Amyotrophic Lateral Sclerosis 4	Dhmn With Upper Motor Neuron Signs
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs	Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
Als 4	Distal Hereditary Motor Neuropathy With Pyramidal Features
Amyotrophic Lateral Sclerosis Juvenile 4	Neuronopathy Distal Hereditary Motor With Pyramidal Features
Sclerosis, Lateral, Amyotrophic, Type Type 4

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139059	ERD03	Inhibitor	99.39%	Unkown
HY-RS04599	EXOSC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EXOSC3	VGNC	VGNC:28658
Macaca mulatta	EXOSC3	VGNC	VGNC:72292
Felis catus	EXOSC3	VGNC	VGNC:62008
Mus musculus	EXOSC3	MGD	MGI:1913612
Canis familiaris	EXOSC3	VGNC	VGNC:40524
Rattus norvegicus	EXOSC3	RGD	RGD:1304739

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