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Aliases for EXOSC1 Gene

Aliases for EXOSC1 Gene

  • Exosome Component 1 2 3 4
  • CSL4 3 4 6
  • Homolog Of Yeast Exosomal Core Protein CSL4 3
  • CSL4 Exosomal Core Protein Homolog (Yeast) 2
  • CSL4 Exosomal Core Protein Homolog 3
  • 3-5 Exoribonuclease CSL4 Homolog 3
  • Exosome Complex Component CSL4 3
  • Exosomal Core Protein CSL4 3
  • CGI-108 3
  • HCsl4p 3
  • Csl4p 3
  • Ski4p 3
  • SKI4 3
  • P13 3

External Ids for EXOSC1 Gene

Summaries for EXOSC1 Gene

Entrez Gene Summary for EXOSC1 Gene

  • 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 interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. [provided by RefSeq, Jul 2008]

GeneCards Summary for EXOSC1 Gene

EXOSC1 (Exosome Component 1) is a Protein Coding gene. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Unfolded Protein Response. GO annotations related to this gene include RNA binding and exoribonuclease activity.

UniProtKB/Swiss-Prot for EXOSC1 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. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8

Gene Wiki entry for EXOSC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC1 Gene

Genomics for EXOSC1 Gene

Genomic Location for EXOSC1 Gene

Start:
97,435,909 bp from pter
End:
97,446,051 bp from pter
Size:
10,143 bases
Orientation:
Minus strand

Genomic View for EXOSC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXOSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC1 Gene

Regulatory Elements for EXOSC1 Gene

Proteins for EXOSC1 Gene

  • Protein details for EXOSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3B2-EXOS1_HUMAN
    Recommended name:
    Exosome complex component CSL4
    Protein Accession:
    Q9Y3B2
    Secondary Accessions:
    • B2R9B3
    • Q5JTH3

    Protein attributes for EXOSC1 Gene

    Size:
    195 amino acids
    Molecular mass:
    21452 Da
    Quaternary structure:
    • Component of the RNA exosome complex. 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. Interacts with EXOSC5, EXOSC7 and EXOSC10. Interacts with DDX60.

    Three dimensional structures from OCA and Proteopedia for EXOSC1 Gene

neXtProt entry for EXOSC1 Gene

Proteomics data for EXOSC1 Gene at MOPED

Post-translational modifications for EXOSC1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys96 and Lys120

Other Protein References for EXOSC1 Gene

No data available for DME Specific Peptides for EXOSC1 Gene

Domains for EXOSC1 Gene

Protein Domains for EXOSC1 Gene

UniProtKB/Swiss-Prot:

EXOS1_HUMAN
Domain:
  • Contains 1 S1 motif domain.:
    • Q9Y3B2
Family:
  • Belongs to the CSL4 family.:
    • Q9Y3B2
genes like me logo Genes that share domains with EXOSC1: view

No data available for Gene Families for EXOSC1 Gene

Function for EXOSC1 Gene

Molecular function for EXOSC1 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. EXOSC1 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC6 and EXOSC8

Gene Ontology (GO) - Molecular Function for EXOSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding NAS 11812149
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 11812149
genes like me logo Genes that share ontologies with EXOSC1: view

Phenotypes for EXOSC1 Gene

GenomeRNAi human phenotypes for EXOSC1:
genes like me logo Genes that share phenotypes with EXOSC1: view

miRNA for EXOSC1 Gene

miRTarBase miRNAs that target EXOSC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EXOSC1 Gene

Localization for EXOSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC1 Gene

Nucleus, nucleolus. Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXOSC1 Gene COMPARTMENTS Subcellular localization image for EXOSC1 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for EXOSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IBA --
GO:0000178 exosome (RNase complex) NAS 11812149
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA 11812149
genes like me logo Genes that share ontologies with EXOSC1: view

Pathways for EXOSC1 Gene

genes like me logo Genes that share pathways with EXOSC1: view

Pathways by source for EXOSC1 Gene

1 KEGG pathway for EXOSC1 Gene

Gene Ontology (GO) - Biological Process for EXOSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS --
GO:0006364 rRNA processing IEA --
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
GO:0016071 mRNA metabolic process --
genes like me logo Genes that share ontologies with EXOSC1: view

Transcripts for EXOSC1 Gene

Unigene Clusters for EXOSC1 Gene

Exosome component 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7: -

Relevant External Links for EXOSC1 Gene

GeneLoc Exon Structure for
EXOSC1
ECgene alternative splicing isoforms for
EXOSC1

Expression for EXOSC1 Gene

mRNA expression in normal human tissues for EXOSC1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXOSC1 Gene

SOURCE GeneReport for Unigene cluster for EXOSC1 Gene Hs.632089

genes like me logo Genes that share expressions with EXOSC1: view

Orthologs for EXOSC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC1 36
  • 99.49 (n)
  • 100 (a)
EXOSC1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXOSC1 36
  • 91.62 (n)
  • 96.92 (a)
EXOSC1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOSC1 36
  • 90.94 (n)
  • 96.92 (a)
EXOSC1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exosc1 36
  • 89.74 (n)
  • 95.9 (a)
Exosc1 16
Exosc1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOSC1 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC1 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exosc1 36
  • 89.23 (n)
  • 95.9 (a)
chicken
(Gallus gallus)
Aves EXOSC1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOSC1 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc1 36
  • 70.14 (n)
  • 78.65 (a)
Str.6115 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1793 36
zebrafish
(Danio rerio)
Actinopterygii exosc1 36
  • 69.98 (n)
  • 80.63 (a)
exosc1 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008063 36
  • 54.63 (n)
  • 51.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta Csl4 36
  • 54.03 (n)
  • 50 (a)
Csl4 37
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea exos-1 36
  • 45.81 (n)
  • 34.64 (a)
exos-1 37
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL199W 36
  • 51.45 (n)
  • 53.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSL4 36
  • 52.03 (n)
  • 47.15 (a)
CSL4 37
  • 26 (a)
OneToOne
CSL4 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19701g 36
  • 49.23 (n)
  • 46.92 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38890 36
  • 52.62 (n)
  • 45.51 (a)
rice
(Oryza sativa)
Liliopsida Os02g0815800 36
  • 55.15 (n)
  • 50.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04155 36
  • 52.51 (n)
  • 49.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes csl4 36
  • 48.15 (n)
  • 46.78 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2962 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 54 (a)
OneToOne
Species with no ortholog for EXOSC1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 EXOSC1 Gene

ENSEMBL:
Gene Tree for EXOSC1 (if available)
TreeFam:
Gene Tree for EXOSC1 (if available)

Paralogs for EXOSC1 Gene

No data available for Paralogs for EXOSC1 Gene

Variants for EXOSC1 Gene

Sequence variations from dbSNP and Humsavar for EXOSC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs10101 -- 97,443,290(+) TTCTC(A/T)CACTA reference, stop-gained, nc-transcript-variant
rs1062893 -- 97,436,232(-) ACAAA(A/C)AAAAC utr-variant-3-prime, downstream-variant-500B
rs1572863 -- 97,443,812(+) tttga(A/G)atgga intron-variant
rs2861953 -- 97,439,325(+) ctgca(G/T)agaag intron-variant
rs2861954 -- 97,440,387(+) TCTGT(C/T)GCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXOSC1 Gene

Variant ID Type Subtype PubMed ID
nsv467440 CNV Loss 19166990

Relevant External Links for EXOSC1 Gene

HapMap Linkage Disequilibrium report
EXOSC1

Disorders for EXOSC1 Gene

No disorders were found for EXOSC1 Gene.

No data available for UniProtKB/Swiss-Prot for EXOSC1 Gene

Publications for EXOSC1 Gene

  1. Protein-protein interactions of hCsl4p with other human exosome subunits. (PMID: 11812149) Raijmakers R. … Pruijn G.J.M. (J. Mol. Biol. 2002) 2 3 4 23
  2. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PMID: 11719186) Chen C.-Y. … Karin M. (Cell 2001) 2 3 4
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for EXOSC1 Gene

Sources for EXOSC1 Gene

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