Details for: EXOSC8

Gene ID: 11340

Symbol: EXOSC8

Ensembl ID: ENSG00000120699

Description: exosome component 8

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.99
    Marker Score: 3,115
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.85
    Marker Score: 2,658
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.7
    Marker Score: 6,587
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.65
    Marker Score: 1,555
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.54
    Marker Score: 566
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.49
    Marker Score: 4,048
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.48
    Marker Score: 1,006
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.48
    Marker Score: 5,811
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.44
    Marker Score: 3,007
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.42
    Marker Score: 1,513
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.38
    Marker Score: 399
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.38
    Marker Score: 2,344
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.36
    Marker Score: 1,371
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.33
    Marker Score: 4,940
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.33
    Marker Score: 995
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.3
    Marker Score: 1,636
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.27
    Marker Score: 1,684
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.26
    Marker Score: 5,176
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.25
    Marker Score: 786
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.23
    Marker Score: 1,305
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.22
    Marker Score: 3,316
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.21
    Marker Score: 15,956
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.2
    Marker Score: 878
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.11
    Marker Score: 613
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.08
    Marker Score: 1,163
  • Cell Name: basophil (CL0000767)
    Fold Change: 1.08
    Marker Score: 512
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.07
    Marker Score: 1,648
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.07
    Marker Score: 1,576
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.07
    Marker Score: 1,895
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.05
    Marker Score: 1,490
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.05
    Marker Score: 337
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.04
    Marker Score: 3,071
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.03
    Marker Score: 2,437
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.02
    Marker Score: 2,409
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.02
    Marker Score: 683
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,601
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.99
    Marker Score: 318
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,826
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.99
    Marker Score: 494
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.99
    Marker Score: 1,617
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.99
    Marker Score: 409
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.98
    Marker Score: 235
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,374
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.97
    Marker Score: 1,032
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.97
    Marker Score: 9,774
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.97
    Marker Score: 606
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.96
    Marker Score: 11,193
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.95
    Marker Score: 209
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.95
    Marker Score: 1,118
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.95
    Marker Score: 388
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.94
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,377
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.94
    Marker Score: 454
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.93
    Marker Score: 590
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.93
    Marker Score: 327
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.93
    Marker Score: 6,048
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.93
    Marker Score: 218
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.93
    Marker Score: 529
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.93
    Marker Score: 229
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 475
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.92
    Marker Score: 382
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.92
    Marker Score: 31,335
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.92
    Marker Score: 1,800
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.91
    Marker Score: 1,176
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.91
    Marker Score: 3,790
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.91
    Marker Score: 1,459
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.9
    Marker Score: 7,778
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.9
    Marker Score: 614
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9
    Marker Score: 413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5,127
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.9
    Marker Score: 222
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.9
    Marker Score: 313
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.9
    Marker Score: 9,074
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.89
    Marker Score: 441
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.89
    Marker Score: 2,669
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.89
    Marker Score: 794
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.88
    Marker Score: 312
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.88
    Marker Score: 1,648
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.88
    Marker Score: 232
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.87
    Marker Score: 3,764
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,288
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.87
    Marker Score: 654
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.86
    Marker Score: 1,725
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.86
    Marker Score: 1,431
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.86
    Marker Score: 2,173
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.86
    Marker Score: 555
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.86
    Marker Score: 807
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.86
    Marker Score: 516
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.85
    Marker Score: 240
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.85
    Marker Score: 226
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.85
    Marker Score: 9,607
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.85
    Marker Score: 416
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.85
    Marker Score: 850
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.84
    Marker Score: 1,473
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 0.84
    Marker Score: 215
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.84
    Marker Score: 29,108
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.84
    Marker Score: 245
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.84
    Marker Score: 573

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The EXOSC8 gene is located on the X chromosome and is highly expressed in various cell types, including erythroid progenitor cells, oogonial cells, neural progenitor cells, and epithelial cells of the nephron. The encoded protein, RRP43, is a component of the exosome complex and is involved in the degradation of mRNA, rRNA, and tRNA. The EXOSC8 gene is also involved in the regulation of RNA stability through interactions with proteins that bind AU-rich elements. **Pathways and Functions** The EXOSC8 gene is involved in several key pathways, including: 1. **Endoplasmic Reticulum Stress Response**: The EXOSC8 gene is induced in response to endoplasmic reticulum stress, which is a condition where the endoplasmic reticulum is unable to properly fold proteins. This response is mediated by the transcription factor ATF4, which activates the expression of EXOSC8. 2. **RNA Decay**: The EXOSC8 gene is involved in the degradation of mRNA, rRNA, and tRNA through the action of the exosome complex. This process is crucial for regulating gene expression and maintaining cellular homeostasis. 3. **Cellular Responses to Stimuli**: The EXOSC8 gene is involved in the regulation of cellular responses to various stimuli, including stress, hypoxia, and DNA damage. 4. **Chromosome Stability**: The EXOSC8 gene is involved in the regulation of chromosome stability through its interaction with proteins that bind AU-rich elements. **Clinical Significance** Mutations in the EXOSC8 gene have been associated with several diseases, including: 1. **X-linked Intellectual Disability**: Mutations in the EXOSC8 gene have been identified as a cause of X-linked intellectual disability, a condition characterized by cognitive impairment and developmental delays. 2. **Neurodegenerative Disorders**: Mutations in the EXOSC8 gene have also been associated with neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 3. **Cancer**: The EXOSC8 gene is also involved in the regulation of cancer development and progression, and mutations in the gene have been identified in several types of cancer, including breast cancer and lung cancer. In conclusion, the EXOSC8 gene plays a critical role in regulating RNA metabolism and cellular homeostasis. Mutations in the gene have been associated with several diseases, including X-linked intellectual disability, neurodegenerative disorders, and cancer. Further research is needed to fully understand the mechanisms by which the EXOSC8 gene regulates cellular processes and to develop effective therapeutic strategies for diseases associated with EXOSC8 mutations.

Genular Protein ID: 3020685117

Symbol: EXOS8_HUMAN

Name: Exosome complex component RRP43

UniProtKB Accession Codes:

Q96B26 O43480 Q5TBA5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ComplexPortal 5 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EMDB 4 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 6 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9466265

Title: Using the yeast two-hybrid system to identify human epithelial cell proteins that bind gonococcal Opa proteins: intracellular gonococci bind pyruvate kinase via their Opa proteins and require host pyruvate for growth.

PubMed ID: 9466265

DOI: 10.1046/j.1365-2958.1998.00670.x

PubMed ID: 11719186

Title: AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.

PubMed ID: 11719186

DOI: 10.1016/s0092-8674(01)00578-5

PubMed ID: 12419256

Title: Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.

PubMed ID: 12419256

DOI: 10.1016/s0022-2836(02)00947-6

PubMed ID: 15231747

Title: A protein interaction framework for human mRNA degradation.

PubMed ID: 15231747

DOI: 10.1101/gr.2122004

PubMed ID: 16912217

Title: Sequence-specific RNA binding mediated by the RNase PH domain of components of the exosome.

PubMed ID: 16912217

DOI: 10.1261/rna.144606

PubMed ID: 17545563

Title: Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways.

PubMed ID: 17545563

DOI: 10.1261/rna.575107

PubMed ID: 20531389

Title: Dis3-like 1: a novel exoribonuclease associated with the human exosome.

PubMed ID: 20531389

DOI: 10.1038/emboj.2010.122

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24989451

Title: EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

PubMed ID: 24989451

DOI: 10.1038/ncomms5287

PubMed ID: 17174896

Title: Reconstitution, activities, and structure of the eukaryotic RNA exosome.

PubMed ID: 17174896

DOI: 10.1016/j.cell.2006.10.037

PubMed ID: 29906447

Title: Helicase-Dependent RNA Decay Illuminated by a Cryo-EM Structure of a Human Nuclear RNA Exosome-MTR4 Complex.

PubMed ID: 29906447

DOI: 10.1016/j.cell.2018.05.041

Sequence Information:

  • Length: 276
  • Mass: 30040
  • Checksum: FC8F5BAE74A1FF55
  • Sequence:
    • MAAGFKTVEP LEYYRRFLKE NCRPDGRELG EFRTTTVNIG SISTADGSAL VKLGNTTVIC 
GVKAEFAAPS TDAPDKGYVV PNVDLPPLCS SRFRSGPPGE EAQVASQFIA DVIENSQIIQ 
KEDLCISPGK LVWVLYCDLI CLDYDGNILD ACTFALLAAL KNVQLPEVTI NEETALAEVN 
LKKKSYLNIR THPVATSFAV FDDTLLIVDP TGEEEHLATG TLTIVMDEEG KLCCLHKPGG 
SGLTGAKLQD CMSRAVTRHK EVKKLMDEVI KSMKPK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.