Exosome component 3

Last updated
EXOSC3
Protein EXOSC3 PDB 2nn6.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases EXOSC3 , PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10, CGI-102, Exosome component 3
External IDs OMIM: 606489 MGI: 1913612 HomoloGene: 6867 GeneCards: EXOSC3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 4: 45.32 – 45.34 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

Clinical significance

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

Related Research Articles

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<span class="mw-page-title-main">Exosome component 2</span> Protein-coding gene in the species Homo sapiens

Exosome component 2, also known as EXOSC2, is a protein which in humans is encoded by the EXOSC2 gene.

<span class="mw-page-title-main">Exosome component 10</span> Protein-coding gene in the species Homo sapiens

Exosome component 10, also known as EXOSC10, is a human gene, the protein product of which is part of the exosome complex and is an autoantigen is patients with certain auto immune diseases, most notably scleromyositis.

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<span class="mw-page-title-main">DIS3</span> Protein-coding gene in the species Homo sapiens

Exosome complex exonuclease RRP44 or Dis3 is an enzyme that in humans is encoded by the DIS3 gene. Its protein product is an RNase enzyme homologous to the yeast protein Rrp44, and can be part of the exosome complex in the nucleus of eukaryotic cells.

<span class="mw-page-title-main">POP7</span> Protein-coding gene in the species Homo sapiens

Ribonuclease P protein subunit p20 is an enzyme that in humans is encoded by the POP7 gene.

<span class="mw-page-title-main">POP1 (gene)</span> Protein-coding gene in the species Homo sapiens

Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.

<span class="mw-page-title-main">Exosome component 8</span> Protein-coding gene in the species Homo sapiens

Exosome component 8, also known as EXOSC8, is a human gene, the protein product of which is part of the exosome complex.

<span class="mw-page-title-main">Exosome component 7</span> Protein-coding gene in the species Homo sapiens

Exosome component 7, also known as EXOSC7, is a human gene, the protein product of which is part of the exosome complex.

<span class="mw-page-title-main">POP5</span> Protein-coding gene in the species Homo sapiens

Ribonuclease P/MRP protein subunit POP5 is an enzyme that in humans is encoded by the POP5 gene.

<span class="mw-page-title-main">Exosome component 9</span> Protein-coding gene in the species Homo sapiens

Exosome component 9, also known as EXOSC9, is a human gene, the protein product of which is part of the exosome complex and is an autoantigen is patients with certain auto immune diseases, most notably scleromyositis.

<span class="mw-page-title-main">Exosome component 4</span> Protein-coding gene in the species Homo sapiens

Exosome component 4, also known as EXOSC4, is a human gene, which is part of the exosome complex.

<span class="mw-page-title-main">SKIV2L2</span> Protein-coding gene in the species Homo sapiens

Superkiller viralicidic activity 2-like 2 is a protein that in humans is encoded by the SKIV2L2 gene.

<span class="mw-page-title-main">Exosome component 1</span> Protein-coding gene in the species Homo sapiens

3'-5' exoribonuclease CSL4 homolog is an enzyme that in humans is encoded by the EXOSC1 gene.

<span class="mw-page-title-main">Exosome component 5</span> Protein-coding gene in the species Homo sapiens

Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.

<span class="mw-page-title-main">RPP38</span> Protein-coding gene in the species Homo sapiens

Ribonuclease P protein subunit p38 is an enzyme that in humans is encoded by the RPP38 gene.

<span class="mw-page-title-main">RMRP</span>

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.

<span class="mw-page-title-main">RRP9</span> Protein-coding gene in the species Homo sapiens

U3 small nucleolar RNA-interacting protein 2 is a protein that in humans is encoded by the RRP9 gene.

<span class="mw-page-title-main">Exosome component 6</span> Protein-coding gene in the species Homo sapiens

Exosome complex exonuclease MTR3 is an enzyme that in humans is encoded by the EXOSC6 gene.

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