EXOSC3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEXOSC3, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10, CGI-102, Exosome component 3
External IDsOMIM: 606489 MGI: 1913612 HomoloGene: 6867 GeneCards: EXOSC3
Orthologs
SpeciesHumanMouse
Entrez

51010

66362

Ensembl

ENSG00000107371

ENSMUSG00000028322

UniProt

Q9NQT5

Q7TQK4

RefSeq (mRNA)

NM_016042
NM_001002269

NM_025513
NM_001362788

RefSeq (protein)

NP_001002269
NP_057126

NP_079789
NP_001349717

Location (UCSC)Chr 9: 37.76 – 37.83 MbChr 4: 45.32 – 45.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.[5]

Clinical significance

Mutations in EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000107371 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028322 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: EXOSC3 exosome component 3".
  6. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC (2012). "Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration". Nat. Genet. 44 (6): 704–8. doi:10.1038/ng.2254. PMC 3366034. PMID 22544365.

Further reading

  • Overview of all the structural information available in the PDB for UniProt: Q9NQT5 (Human Exosome complex component RRP40) at the PDBe-KB.



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