POP1
Identifiers
AliasesPOP1, POP1 homolog, ribonuclease P/MRP subunit, ANXD2
External IDsOMIM: 602486 MGI: 1914974 HomoloGene: 41000 GeneCards: POP1
Orthologs
SpeciesHumanMouse
Entrez

10940

67724

Ensembl

ENSG00000104356

ENSMUSG00000022325

UniProt

Q99575
Q96F88

n/a

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

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

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

Interactions

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104356 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022325 - 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. 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, Tim J M; van Venrooij Walther J; Pruijn Ger J M (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. England. 32 (7): 2138–46. doi:10.1093/nar/gkh539. PMC 407822. PMID 15096576.

Further reading

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.