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] See more...

Aliases for EXOSC9 Gene

Aliases for EXOSC9 Gene

  • Exosome Component 9 2 3 4 5
  • PM/Scl-75 2 3 4
  • Polymyositis/Scleroderma Autoantigen 1, 75kDa 2 3
  • Exosome Complex Component RRP45 3 4
  • Autoantigen PM/Scl 1 3 4
  • PMSCL1 3 4
  • Rrp45p 2 3
  • RRP45 2 3
  • P5 2 3
  • P6 2 3
  • P75 Polymyositis-Scleroderma Overlap Syndrome Associated Autoantigen 3
  • P75 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen 4
  • Polymyositis/Scleroderma Autoantigen 1 (75kD) 2
  • Polymyositis/Scleroderma Autoantigen 75 KDa 4
  • Polymyositis/Scleroderma Autoantigen 1 4
  • Exosome Complex Exonuclease RRP45 3
  • PMSCL Autoantigen, 75kD 3
  • EC 3.1.13 51
  • EXOSC9 5
  • PCH1D 3

External Ids for EXOSC9 Gene

Previous HGNC Symbols for EXOSC9 Gene

  • PMSCL1

Previous GeneCards Identifiers for EXOSC9 Gene

  • GC04P123182
  • GC04P123080
  • GC04P122941
  • GC04P122722
  • GC04P118449

Summaries for EXOSC9 Gene

Entrez Gene Summary for EXOSC9 Gene

  • 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]

GeneCards Summary for EXOSC9 Gene

EXOSC9 (Exosome Component 9) is a Protein Coding gene. Diseases associated with EXOSC9 include Pontocerebellar Hypoplasia, Type 1D and Pontocerebellar Hypoplasia Type 1. Among its related pathways are rRNA processing in the nucleus and cytosol and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include 3'-5'-exoribonuclease activity. An important paralog of this gene is EXOSC7.

UniProtKB/Swiss-Prot Summary for EXOSC9 Gene

  • 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 maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs.

Gene Wiki entry for EXOSC9 Gene

Additional gene information for EXOSC9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOSC9 Gene

Genomics for EXOSC9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOSC9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J121798 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 611 -0.3 -325 4 SP1 CREB1 GATAD2A ATF7 ZNF629 IKZF1 NFKBIZ ZNF692 NFRKB POLR2A EXOSC9 lnc-CCNA2-1 BBS7 SMIM43 PP12613 piR-38583-012
GH04J121803 Promoter 0.3 Ensembl 600.7 +2.0 1982 0.2 EXOSC9 HSALNG0036825 SMIM43 PP12613 CCNA2
GH04J121821 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 49.6 +21.8 21783 3.8 SP1 CREB1 PRDM10 REST ZNF629 ZNF512 IKZF1 ZNF692 POLR2A RCOR2 CCNA2 EXOSC9 BBS7 KIAA1109 HSALNG0036825
GH04J121070 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 18.2 -729.4 -729359 6.7 CTCF ZIC2 ZSCAN4 POLR2A PATZ1 ZNF600 ZNF341 ZNF561 KLF9 ZBTB20 NDNF ENSG00000250344 LOC105377400 EXOSC9 PRDM5
GH04J122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.4 +931.9 931885 2.9 SP1 CREB1 PRDM10 REST RFX1 IKZF1 RFX5 CTCF FOS JUND CETN4P lnc-IL21-1 BBS12 SPATA5 EXOSC9 LOC727709 FGF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOSC9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOSC9

Top Transcription factor binding sites by QIAGEN in the EXOSC9 gene promoter:
  • Egr-2
  • HTF
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for EXOSC9 Gene

Genomic Locations for EXOSC9 Gene
chr4:121,801,318-121,817,021
(GRCh38/hg38)
Size:
15,704 bases
Orientation:
Plus strand
chr4:122,722,472-122,738,176
(GRCh37/hg19)
Size:
15,705 bases
Orientation:
Plus strand

Genomic View for EXOSC9 Gene

Genes around EXOSC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOSC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOSC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC9 Gene

Proteins for EXOSC9 Gene

  • Protein details for EXOSC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06265-EXOS9_HUMAN
    Recommended name:
    Exosome complex component RRP45
    Protein Accession:
    Q06265
    Secondary Accessions:
    • Q12883
    • Q4W5P5
    • Q86Y41
    • Q86Y48

    Protein attributes for EXOSC9 Gene

    Size:
    439 amino acids
    Molecular mass:
    48949 Da
    Quaternary structure:
    • Component of the RNA exosome complex (PubMed:29906447). Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure (PubMed:11719186, PubMed:12788944, PubMed:20531389). Interacts (via C-terminus region) with SETX (via N-terminus domain); the interaction enhances SETX sumoylation (PubMed:24105744).

    Three dimensional structures from OCA and Proteopedia for EXOSC9 Gene

    Alternative splice isoforms for EXOSC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOSC9 Gene

Selected DME Specific Peptides for EXOSC9 Gene

Q06265:
  • PVLWTPGTAQIG
  • EERDPVPLSIHHMPICVSFAFFQQGTYLLVDP

Post-translational modifications for EXOSC9 Gene

  • Ubiquitination at Lys101, Lys52, Lys67, Lys244, and Lys281
  • Modification sites at PhosphoSitePlus

Domains & Families for EXOSC9 Gene

Gene Families for EXOSC9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EXOSC9 Gene

GenScript: Design optimal peptide antigens:
  • Exosome component 9 (A5PLM5_HUMAN)
  • Polymyositis/scleroderma autoantigen 75 kDa (EXOS9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06265

UniProtKB/Swiss-Prot:

EXOS9_HUMAN :
  • Belongs to the RNase PH family.
Family:
  • Belongs to the RNase PH family.
genes like me logo Genes that share domains with EXOSC9: view

Function for EXOSC9 Gene

Molecular function for EXOSC9 Gene

UniProtKB/Swiss-Prot 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 maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs.

Enzyme Numbers (IUBMB) for EXOSC9 Gene

Phenotypes From GWAS Catalog for EXOSC9 Gene

Gene Ontology (GO) - Molecular Function for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3'-5'-exoribonuclease activity NAS 11879549
GO:0001102 RNA polymerase II activating transcription factor binding IEA --
GO:0003723 RNA binding NAS 11879549
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 12788944
genes like me logo Genes that share ontologies with EXOSC9: view
genes like me logo Genes that share phenotypes with EXOSC9: view

Human Phenotype Ontology for EXOSC9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXOSC9 Gene

MGI Knock Outs for EXOSC9:
  • Exosc9 Exosc9<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOSC9

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for EXOSC9 Gene

Localization for EXOSC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC9 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Colocalizes with SETX in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). {ECO:0000269 PubMed:24105744}.
[Isoform 1]: Nucleus, nucleolus.
[Isoform 2]: Nucleus, nucleolus.
[Isoform 3]: Nucleus. Note=Excluded from the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOSC9 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IBA,NAS 11879549
GO:0000177 cytoplasmic exosome (RNase complex) IBA 21873635
GO:0000178 exosome (RNase complex) IEA,IDA 20531389
GO:0000228 nuclear chromosome IDA 24105744
GO:0005634 nucleus TAS,IDA 17545563
genes like me logo Genes that share ontologies with EXOSC9: view

Pathways & Interactions for EXOSC9 Gene

genes like me logo Genes that share pathways with EXOSC9: view

Pathways by source for EXOSC9 Gene

1 GeneGo (Thomson Reuters) pathway for EXOSC9 Gene
  • ATP/ITP metabolism

SIGNOR curated interactions for EXOSC9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000467 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:0000956 nuclear-transcribed mRNA catabolic process IMP 17545563
GO:0006364 rRNA processing TAS --
GO:0006396 RNA processing IEA --
GO:0006955 immune response NAS 11879549
genes like me logo Genes that share ontologies with EXOSC9: view

Drugs & Compounds for EXOSC9 Gene

No Compound Related Data Available

Transcripts for EXOSC9 Gene

mRNA/cDNA for EXOSC9 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOSC9

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC9 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - - -
SP7: - - - -
SP8:

Relevant External Links for EXOSC9 Gene

GeneLoc Exon Structure for
EXOSC9

Expression for EXOSC9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOSC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EXOSC9 Gene

This gene is overexpressed in Lung (32.8) and Breast (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOSC9 Gene



Protein tissue co-expression partners for EXOSC9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOSC9

SOURCE GeneReport for Unigene cluster for EXOSC9 Gene:

Hs.91728

Evidence on tissue expression from TISSUES for EXOSC9 Gene

  • Liver(4.3)
  • Nervous system(2.8)
  • Skin(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with EXOSC9: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOSC9 Gene

Orthologs for EXOSC9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOSC9 30
  • 99.63 (n)
Cow
(Bos Taurus)
Mammalia EXOSC9 30 31
  • 92.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOSC9 30 31
  • 91.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Exosc9 30
  • 88.69 (n)
Mouse
(Mus musculus)
Mammalia Exosc9 30 17 31
  • 88.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOSC9 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC9 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EXOSC9 30 31
  • 75.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EXOSC9 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exosc9 30
  • 71.7 (n)
Str.10876 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16470 30
Zebrafish
(Danio rerio)
Actinopterygii exosc9 30 31
  • 69.16 (n)
OneToOne
Dr.18150 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002348 30
  • 49.28 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rrp45 31
  • 26 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea exos-9 30 31
  • 48.51 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP45 30 31 33 33
  • 48.86 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11099g 30
  • 48.38 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL124W 30
  • 47.11 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CER7 30
  • 51.19 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0550700 30
  • 52.89 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC757.08 30
  • 52.04 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00334 30
  • 49.7 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for EXOSC9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EXOSC9 Gene

ENSEMBL:
Gene Tree for EXOSC9 (if available)
TreeFam:
Gene Tree for EXOSC9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOSC9: view image

Paralogs for EXOSC9 Gene

Paralogs for EXOSC9 Gene

(2) SIMAP similar genes for EXOSC9 Gene using alignment to 7 proteins:

  • EXOS9_HUMAN
  • A5PLM5_HUMAN
  • D6R905_HUMAN
  • D6RA17_HUMAN
  • D6RAP4_HUMAN
  • D6RIY6_HUMAN
  • H0Y9L5_HUMAN
genes like me logo Genes that share paralogs with EXOSC9: view

Variants for EXOSC9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOSC9 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs139632595 Pathogenic: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D. Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065] 121,801,465(+) T/Cp.Leu14Pro MISSENSE_VARIANT
rs372318863 Pathogenic: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D 121,804,718(+) C/T NONSENSE
rs1051881 - p.Ser425Thr
rs1803183 - p.Ile366Val

Additional dbSNP identifiers (rs#s) for EXOSC9 Gene

Structural Variations from Database of Genomic Variants (DGV) for EXOSC9 Gene

Variant ID Type Subtype PubMed ID
esv3602016 CNV gain 21293372
nsv997539 CNV gain 25217958

Variation tolerance for EXOSC9 Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.01; 80.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOSC9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOSC9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOSC9 Gene

Disorders for EXOSC9 Gene

MalaCards: The human disease database

(12) MalaCards diseases for EXOSC9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EXOS9_HUMAN
  • Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065]: An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. {ECO:0000269 PubMed:29727687}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with EXOSC9: view

No data available for Genatlas for EXOSC9 Gene

Publications for EXOSC9 Gene

  1. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. (PMID: 29727687) Burns DT … Bönnemann CG (American journal of human genetics 2018) 3 4
  2. A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage. (PMID: 24105744) Richard P … Manley JL (Genes & development 2013) 3 4
  3. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals RH … Pruijn GJ (The EMBO journal 2010) 3 4
  4. Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. (PMID: 17545563) van Dijk EL … Pruijn GJ (RNA (New York, N.Y.) 2007) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for EXOSC9 Gene

Sources for EXOSC9 Gene