EXOSC9 - exosome component 9 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5393

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	References	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	References	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	References	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

EXOSC9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EXOSC9	Q06265	EXOSC4	Homo sapiens	Q9NPD3	Anti Bait CoIP	12788944
Intra	EXOSC9	Q06265	EXOSC4	Homo sapiens	Q9NPD3	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EXOSC9 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76325	EXOSC9 Protein, Human (sf9, His)	Q06265-1/NP_005024.2 (M1-N439)	≥ 85%, as determined by reducing SDS-PAGE.

EXOSC9 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86869	EXOSC9 Antibody (YA6562)	WB	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04605	EXOSC9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21853	Exosc9 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28370	Exosc9 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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