EXOSC9 - exosome component 9 Gene

Homo sapiens

Also known as p5; p6; PCH1D; RRP45; PMSCL1; Rrp45p; PM/Scl-75

Gene ID: 5393 | Gene type: protein coding

About EXOSC9

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:121,801,323-121,817,021 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 24.9), bone marrow (RPKM 19.1) and 24 other tissues.

Summary

This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

EXOSC9 Products(2)

mRNA	Protein	Name
NM_001034194.2	NP_001029366.1	exosome complex component RRP45 isoform 1
NM_005033.3	NP_005024.2	exosome complex component RRP45 isoform 2

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 mRNA 3'-UTR AU-rich region binding	IDA IDA: Inferred from direct assay	11782436	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12788944	GOA

Biological Process GO Annotation	Evidence	Reference	Source
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 nuclear mRNA surveillance	IMP IMP: Inferred from mutant phenotype	17545563	GOA
involved in nuclear polyadenylation-dependent rRNA catabolic process	IMP IMP: Inferred from mutant phenotype	16455498	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	17545563	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	17545563	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17545563	GOA
located in cytosol	IDA IDA: Inferred from direct assay	20531386	GOA
part of exosome (RNase complex)	IDA IDA: Inferred from direct assay	20531389	GOA
located in nuclear chromosome	IDA IDA: Inferred from direct assay	24105744	GOA
part of nuclear exosome (RNase complex)	IDA IDA: Inferred from direct assay	22791713	GOA
NOT located in nucleolus	IDA IDA: Inferred from direct assay	22791713	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	20531386	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	24105744	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

EXOSC9 Protein Structure

RNase_PH

RNase_PH_C

0
100
200
300
400
439 a.a.

Protein Preferred Names

Protein Names

exosome complex component RRP45

P75 polymyositis-scleroderma overlap syndrome associated autoantigen

Recombinant EXOSC9 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76325	EXOSC9 Protein, Human (sf9, His)	Q06265-1/NP_005024.2 (M1-N439)	≥95%

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 1d

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

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

Cerebral Atrophy

Polymyositis

Pm - [Polymyositis]

Pontocerebellar Hypoplasia

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

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 1b

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

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

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3	HP3
Ph Iii	Primary Hyperoxaluria Type Iii
Hyperoxaluria Primary 3	Hyperoxaluria Non-Hp1/Non-Hp2
Hyperoxaluria Non-Ph I/Ph Ii Form	Hyperoxaluria Primary Type Iii

Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2	D-Glycerate Dehydrogenase Deficiency
Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency	HP2
Oxalosis Ii	Glyceric Aciduria
L-Glyceric Aciduria	Primary Hyperoxaluria, Type Ii
Oxalosis 2	Hyperoxaluria Primary 2
Hyperoxaluria Primary Type Ii	Ph2
Primary Hyperoxaluria Type Ii

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

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12	OI12
Osteogenesis Imperfecta Type Xii	Oi, Type Xii
Osteogenesis Imperfecta 12	Oi Type Xii
Oi-Xii	Osteogenesis Imperfecta Sillence Type Iii

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04605	EXOSC9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EXOSC9	MGD	MGI:1355319
Felis catus	EXOSC9	VGNC	VGNC:68925
Rattus norvegicus	EXOSC9	RGD	RGD:1307888
Canis familiaris	EXOSC9	VGNC	VGNC:40529
Bos taurus	EXOSC9	VGNC	VGNC:28663
Macaca mulatta	EXOSC9	VGNC	VGNC:72477
Others	EXOSC9	NCBI

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