POP1 (gene)

POP1
Identifiers
Aliases	POP1 , POP1 homolog, ribonuclease P/MRP subunit, ANXD2
External IDs	OMIM: 602486; MGI: 1914974; HomoloGene: 41000; GeneCards: POP1; OMA:POP1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8q22.2 Start 98,117,293 bp [1] End 98,159,835 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 B3.1 Start 34,495,450 bp [2] End 34,530,794 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad stromal cell of endometrium ganglionic eminence ventricular zone islet of Langerhans Achilles tendon apex of heart granulocyte rectum Top expressed in zygote primary oocyte hand ventricular zone epiblast tail of embryo Rostral migratory stream secondary oocyte proximal tubule lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ribonuclease P activity hydrolase activity ribonuclease MRP activity RNA binding Cellular component nucleolar ribonuclease P complex nucleus ribonuclease MRP complex nucleoplasm extracellular space nucleolus mitochondrion Golgi apparatus intracellular membrane-bounded organelle multimeric ribonuclease P complex Biological process tRNA catabolic process RNA processing RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic tRNA processing tRNA 5'-leader removal Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 15: 34.5 – 34.53 Mb PubMed search [3] [4]
Wikidata
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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. GRCh38: Ensembl release 89: ENSG00000104356 – Ensembl, May 2017
2. 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 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

• Nomura N, Nagase T, Miyajima N, et al. (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 1 (5): 223–9. doi: 10.1093/dnares/1.5.223 . PMID   7584044.
• Schmiedeknecht G, Büchler C, Schmitz G (1998). "A bidirectional promoter connects the p14.5 gene to the gene for RNase P and RNase MRP protein subunit hPOP1". Biochem. Biophys. Res. Commun. 241 (1): 59–67. doi:10.1006/bbrc.1997.7772. PMID   9405234.
• Dundr M, Olson MO (1999). "Partially processed pre-rRNA is preserved in association with processing components in nucleolus-derived foci during mitosis". Mol. Biol. Cell. 9 (9): 2407–22. doi:10.1091/mbc.9.9.2407. PMC   25507 . PMID   9725903.
• Jiang T, Guerrier-Takada C, Altman S (2001). "Protein-RNA interactions in the subunits of human nuclear RNase P." RNA. 7 (7): 937–41. doi:10.1017/S1355838201010299. PMC   1370153 . PMID   11455963.
• van Eenennaam H, van der Heijden A, Janssen RJ, et al. (2002). "Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association". Mol. Biol. Cell. 12 (11): 3680–9. doi:10.1091/mbc.12.11.3680. PMC   60285 . PMID   11694598.
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi: 10.1016/S0960-9822(01)00650-9 . PMID   11790298. S2CID   14132033.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Welting TJ, van Venrooij WJ, Pruijn GJ (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. 32 (7): 2138–46. doi:10.1093/nar/gkh539. PMC   407822 . PMID   15096576.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID   15635413. S2CID   4344740.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ (2006). "Differential association of protein subunits with the human RNase MRP and RNase P complexes". RNA. 12 (7): 1373–82. doi:10.1261/rna.2293906. PMC   1484433 . PMID   16723659.

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