ENSG00000120699


Homo sapiens

Features
Gene ID: ENSG00000120699
  
Biological name :EXOSC8
  
Synonyms : EXOSC8 / exosome component 8 / Q96B26
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q13.3
Gene start: 36998816
Gene end: 37009613
  
Corresponding Affymetrix probe sets: 215136_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000239893
Ensembl peptide - ENSP00000374354
Ensembl peptide - ENSP00000419203
NCBI entrez gene - 11340     See in Manteia.
OMIM - 606019
RefSeq - XM_006719763
RefSeq - NM_181503
RefSeq Peptide - NP_852480
swissprot - H7C581
swissprot - Q96B26
swissprot - H7C5Z2
Ensembl - ENSG00000120699
  
Related genetic diseases (OMIM): 616081 - Pontocerebellar hypoplasia, type 1C, 616081
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 exosc8ENSDARG00000068755Danio rerio
 EXOSC8ENSGALG00000017048Gallus gallus
 Exosc8ENSMUSG00000027752Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EXOSC9 / Q06265 / exosome component 9ENSG0000012373727
EXOSC7 / Q15024 / exosome component 7ENSG0000007591426


Protein motifs (from Interpro)
Interpro ID Name
 IPR001247  Exoribonuclease, phosphorolytic domain 1
 IPR015847  Exoribonuclease, phosphorolytic domain 2
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR027408  PNPase/RNase PH domain superfamily
 IPR033196  Exosome complex component Rrp43
 IPR036345  Exoribonuclease, PH domain 2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000467 exonucleolytic trimming to generate mature 3"-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
 biological_processGO:0006364 rRNA processing TAS
 biological_processGO:0006396 RNA processing IEA
 biological_processGO:0006401 RNA catabolic process IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3"-5" IBA
 biological_processGO:0034473 U1 snRNA 3"-end processing IBA
 biological_processGO:0034475 U4 snRNA 3"-end processing IBA
 biological_processGO:0034476 U5 snRNA 3"-end processing IBA
 biological_processGO:0043488 regulation of mRNA stability TAS
 biological_processGO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay IBA
 biological_processGO:0071028 nuclear mRNA surveillance IBA
 biological_processGO:0071035 nuclear polyadenylation-dependent rRNA catabolic process IBA
 biological_processGO:0071038 nuclear polyadenylation-dependent tRNA catabolic process IBA
 biological_processGO:0071042 nuclear polyadenylation-dependent mRNA catabolic process IBA
 cellular_componentGO:0000176 nuclear exosome (RNase complex) IBA
 cellular_componentGO:0000177 cytoplasmic exosome (RNase complex) IBA
 cellular_componentGO:0000178 exosome (RNase complex) IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017091 AU-rich element binding IDA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
ATF4 activates genes
mRNA decay by 3 to 5 exoribonuclease
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
KSRP (KHSRP) binds and destabilizes mRNA
Major pathway of rRNA processing in the nucleolus and cytosol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000505 Impaired vision 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001285 Spastic tetraparesis "Spastic weakness affecting all four limbs." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001508 Failure to thrive 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002878 Early respiratory failure 
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 HP:0007269 Spinal muscular atrophy "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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