POP1 (gene): Difference between revisions

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{{Infobox_gene}}
'''Ribonucleases P/MRP protein subunit POP1''' is a [[protein]] that in humans is encoded by the ''POP1'' [[gene]].<ref name="pmid10199568">{{cite journal |vauthors=Pluk H, van Eenennaam H, Rutjes SA, Pruijn GJ, van Venrooij WJ | title = RNA-protein interactions in the human RNase MRP ribonucleoprotein complex | journal = RNA | volume = 5 | issue = 4 | pages = 512–24 |date=Apr 1999 | pmid = 10199568 | pmc = 1369778 | doi =10.1017/S1355838299982079  }}</ref><ref name="pmid8918471">{{cite journal |vauthors=Lygerou Z, Pluk H, van Venrooij WJ, Seraphin B | title = hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins | journal = EMBO J | volume = 15 | issue = 21 | pages = 5936–48 |date=Jan 1997 | pmid = 8918471 | pmc = 452370 | doi =  }}</ref>
== Function ==
POP1 is a protein subunit of two different small [[nucleolus|nucleolar]] [[ribonucleoprotein]] complexes: the [[endoribonuclease]] for mitochondrial RNA processing complex and the [[RNase P|ribonuclease P]] complex. This protein is a [[ribonuclease]] that localizes to the nucleus and functions in pre-RNA processing.<ref name="entrez">{{cite web | title = Entrez Gene: POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10940| accessdate = }}</ref>
== Clinical significance ==
POP1 is also an autoantigen in patients suffering from connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic [[dysplasia]].<ref name=pmid21455487>{{cite journal|last=Glazov|first=EA|author2=Zankl, A |author3=Donskoi, M |author4=Kenna, TJ |author5=Thomas, GP |author6=Clark, GR |author7=Duncan, EL |author8=Brown, MA |title=Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia.|journal=PLOS Genetics|date=Mar 2011|volume=7|issue=3|pages=e1002027|pmid=21455487|doi=10.1371/journal.pgen.1002027|pmc=3063761}}</ref>
== Interactions ==
POP1 (gene) has been shown to [[Protein-protein interaction|interact]] with [[POP4 (gene)|POP4]].<ref name=pmid15096576>{{cite journal |last=Welting |first=Tim J M |authorlink= |author2=van Venrooij Walther J |author3=Pruijn Ger J M  |year=2004|title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex |journal=Nucleic Acids Res. |volume=32 |issue=7 |pages=2138–46 |publisher= |location = England| issn = | pmid = 15096576 |doi = 10.1093/nar/gkh539 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=407822 }}</ref>
== References ==
{{reflist}}
== Further reading ==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  |vauthors=Nomura N, Nagase T, Miyajima N, etal |title=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. |journal=DNA Res. |volume=1 |issue= 5 |pages= 223–9 |year= 1995 |pmid= 7584044 |doi=10.1093/dnares/1.5.223  }}
*{{cite journal  |vauthors=Schmiedeknecht G, Büchler C, Schmitz G |title=A bidirectional promoter connects the p14.5 gene to the gene for RNase P and RNase MRP protein subunit hPOP1. |journal=Biochem. Biophys. Res. Commun. |volume=241 |issue= 1 |pages= 59–67 |year= 1998 |pmid= 9405234 |doi= 10.1006/bbrc.1997.7772 }}
*{{cite journal  |vauthors=Dundr M, Olson MO |title=Partially processed pre-rRNA is preserved in association with processing components in nucleolus-derived foci during mitosis. |journal=Mol. Biol. Cell |volume=9 |issue= 9 |pages= 2407–22 |year= 1999 |pmid= 9725903 |doi=  10.1091/mbc.9.9.2407| pmc=25507  }}
*{{cite journal  |vauthors=Jiang T, Guerrier-Takada C, Altman S |title=Protein-RNA interactions in the subunits of human nuclear RNase P. |journal=RNA |volume=7 |issue= 7 |pages= 937–41 |year= 2001 |pmid= 11455963 |doi=10.1017/S1355838201010299  | pmc=1370153  }}
*{{cite journal  |vauthors=van Eenennaam H, van der Heijden A, Janssen RJ, etal |title=Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association. |journal=Mol. Biol. Cell |volume=12 |issue= 11 |pages= 3680–9 |year= 2002 |pmid= 11694598 |doi=  10.1091/mbc.12.11.3680| pmc=60285  }}
*{{cite journal  |vauthors=Andersen JS, Lyon CE, Fox AH, etal |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=10.1016/S0960-9822(01)00650-9  }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |bibcode=2002PNAS...9916899M }}
*{{cite journal  |vauthors=Welting TJ, van Venrooij WJ, Pruijn GJ |title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2138–46 |year= 2004 |pmid= 15096576 |doi= 10.1093/nar/gkh539  | pmc=407822 }}
*{{cite journal  |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, etal |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101  | pmc=514446 |bibcode=2004PNAS..10112130B }}
*{{cite journal  |vauthors=Andersen JS, Lam YW, Leung AK, etal |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 |bibcode=2005Natur.433...77A }}
*{{cite journal  |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R }}
*{{cite journal  |vauthors=Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ |title=Differential association of protein subunits with the human RNase MRP and RNase P complexes. |journal=RNA |volume=12 |issue= 7 |pages= 1373–82 |year= 2006 |pmid= 16723659 |doi= 10.1261/rna.2293906  | pmc=1484433 }}
}}
{{refend}}
{{NLM content}}
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
| HGNCid = 30129
| Symbol = POP1
| AltSymbols =; KIAA0061; MGC17365
| OMIM = 602486
| ECnumber = 
| Homologene = 41000
| MGIid = 1914974
| GeneAtlas_image1 = PBB_GE_POP1_213449_at_tn.png
| Function = {{GNF_GO|id=GO:0000171 |text = ribonuclease MRP activity}} {{GNF_GO|id=GO:0004526 |text = ribonuclease P activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}}
| Component = {{GNF_GO|id=GO:0000172 |text = ribonuclease MRP complex}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005655 |text = nucleolar ribonuclease P complex}}
| Process = {{GNF_GO|id=GO:0001682 |text = tRNA 5'-leader removal}} {{GNF_GO|id=GO:0016078 |text = tRNA catabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10940
    | Hs_Ensembl = ENSG00000104356
    | Hs_RefseqProtein = NP_055844
    | Hs_RefseqmRNA = NM_015029
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 99199244
    | Hs_GenLoc_end = 99239813
    | Hs_Uniprot = Q99575
    | Mm_EntrezGene = 67724
    | Mm_Ensembl = ENSMUSG00000022325
    | Mm_RefseqmRNA = NM_026340
    | Mm_RefseqProtein = NP_080616
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 34439912
    | Mm_GenLoc_end = 34475237
    | Mm_Uniprot = 
  }}
}}
'''Processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)''', also known as '''POP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10940| accessdate = }}</ref>
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Nomura N, Nagase T, Miyajima N, ''et al.'' |title=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. |journal=DNA Res. |volume=1 |issue= 5 |pages= 223-9 |year= 1995 |pmid= 7584044 |doi=  }}
*{{cite journal  | author=Lygerou Z, Pluk H, van Venrooij WJ, Séraphin B |title=hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins. |journal=EMBO J. |volume=15 |issue= 21 |pages= 5936-48 |year= 1997 |pmid= 8918471 |doi=  }}
*{{cite journal  | author=Schmiedeknecht G, Büchler C, Schmitz G |title=A bidirectional promoter connects the p14.5 gene to the gene for RNase P and RNase MRP protein subunit hPOP1. |journal=Biochem. Biophys. Res. Commun. |volume=241 |issue= 1 |pages= 59-67 |year= 1998 |pmid= 9405234 |doi= 10.1006/bbrc.1997.7772 }}
*{{cite journal  | author=Dundr M, Olson MO |title=Partially processed pre-rRNA is preserved in association with processing components in nucleolus-derived foci during mitosis. |journal=Mol. Biol. Cell |volume=9 |issue= 9 |pages= 2407-22 |year= 1999 |pmid= 9725903 |doi=  }}
*{{cite journal  | author=Pluk H, van Eenennaam H, Rutjes SA, ''et al.'' |title=RNA-protein interactions in the human RNase MRP ribonucleoprotein complex. |journal=RNA |volume=5 |issue= 4 |pages= 512-24 |year= 1999 |pmid= 10199568 |doi=  }}
*{{cite journal  | author=Jiang T, Guerrier-Takada C, Altman S |title=Protein-RNA interactions in the subunits of human nuclear RNase P. |journal=RNA |volume=7 |issue= 7 |pages= 937-41 |year= 2001 |pmid= 11455963 |doi=  }}
*{{cite journal  | author=van Eenennaam H, van der Heijden A, Janssen RJ, ''et al.'' |title=Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association. |journal=Mol. Biol. Cell |volume=12 |issue= 11 |pages= 3680-9 |year= 2002 |pmid= 11694598 |doi=  }}
*{{cite journal  | author=Andersen JS, Lyon CE, Fox AH, ''et al.'' |title=Directed proteomic analysis of the human nucleolus. |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1-11 |year= 2002 |pmid= 11790298 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Welting TJ, van Venrooij WJ, Pruijn GJ |title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2138-46 |year= 2004 |pmid= 15096576 |doi= 10.1093/nar/gkh539 }}
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal  | author=Andersen JS, Lam YW, Leung AK, ''et al.'' |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77-83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | author=Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ |title=Differential association of protein subunits with the human RNase MRP and RNase P complexes. |journal=RNA |volume=12 |issue= 7 |pages= 1373-82 |year= 2006 |pmid= 16723659 |doi= 10.1261/rna.2293906 }}
}}
{{refend}}


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Latest revision as of 08:43, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.[1][2]

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.[3]

Clinical significance

POP1 is also an autoantigen in patients suffering from connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic dysplasia.[4]

Interactions

POP1 (gene) has been shown to interact with POP4.[5]

References

  1. ↑ 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.
  2. ↑ 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. PMC 452370. PMID 8918471.
  3. ↑ "Entrez Gene: POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)".
  4. ↑ 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.
  5. ↑ 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.



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