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POP1 (gene)

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POP1
Identifiers
AliasesPOP1, POP1 homolog, ribonuclease P/MRP subunit, ANXD2
External IDsOMIM: 602486; MGI: 1914974; HomoloGene: 41000; GeneCards: POP1; OMA:POP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145860
NM_001145861
NM_015029

NM_026340
NM_152894

RefSeq (protein)

NP_001139332
NP_001139333
NP_055844
NP_055844.2

n/a

Location (UCSC)Chr 8: 98.12 – 98.16 MbChr 15: 34.5 – 34.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.[5][6]

Function

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POP1 is a protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. This protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing.[7]

Clinical significance

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POP1 is also an autoantigen in patients with connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic dysplasia.[8]

Interactions

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POP1 (gene) has been shown to interact with POP4.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104356Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022325Ensembl, 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. ^ Pluk H, van Eenennaam H, Rutjes SA, Pruijn GJ, van Venrooij WJ (Apr 1999). "RNA-protein interactions in the human RNase MRP ribonucleoprotein complex". RNA. 5 (4): 512–24. doi:10.1017/S1355838299982079. PMC 1369778. PMID 10199568.
  6. ^ Lygerou Z, Pluk H, van Venrooij WJ, Seraphin B (Jan 1997). "hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins". EMBO J. 15 (21): 5936–48. doi:10.1002/j.1460-2075.1996.tb00980.x. PMC 452370. PMID 8918471.
  7. ^ "Entrez Gene: POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)".
  8. ^ Glazov EA, Zankl, A, Donskoi, M, Kenna, TJ, Thomas, GP, Clark, GR, Duncan, EL, Brown, MA (Mar 2011). "Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia". PLOS Genetics. 7 (3): e1002027. doi:10.1371/journal.pgen.1002027. PMC 3063761. PMID 21455487.
  9. ^ Welting TJ, van Venrooij Walther J, Pruijn Ger J M (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. 32 (7). England: 2138–46. doi:10.1093/nar/gkh539. PMC 407822. PMID 15096576.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.