| POP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | POP1 , POP1 homolog, ribonuclease P/MRP subunit, ANXD2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602486 MGI: 1914974 HomoloGene: 41000 GeneCards: POP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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]
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]
POP1 is also an autoantigen in patients with connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic dysplasia. [8]
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965.
Ribonuclease P is a type of ribonuclease which cleaves RNA. RNase P is unique from other RNases in that it is a ribozyme – a ribonucleic acid that acts as a catalyst in the same way that a protein-based enzyme would. Its function is to cleave off an extra, or precursor, sequence of RNA on tRNA molecules. Further, RNase P is one of two known multiple turnover ribozymes in nature, the discovery of which earned Sidney Altman and Thomas Cech the Nobel Prize in Chemistry in 1989: in the 1970s, Altman discovered the existence of precursor tRNA with flanking sequences and was the first to characterize RNase P and its activity in processing of the 5' leader sequence of precursor tRNA. Recent findings also reveal that RNase P has a new function. It has been shown that human nuclear RNase P is required for the normal and efficient transcription of various small noncoding RNAs, such as tRNA, 5S rRNA, SRP RNA and U6 snRNA genes, which are transcribed by RNA polymerase III, one of three major nuclear RNA polymerases in human cells.
RNase MRP is an enzymatically active ribonucleoprotein with two distinct roles in eukaryotes. RNAse MRP stands for RNAse for mitochondrial RNA processing. In mitochondria it plays a direct role in the initiation of mitochondrial DNA replication. In the nucleus it is involved in precursor rRNA processing, where it cleaves the internal transcribed spacer 1 between 18S and 5.8S rRNAs. Despite distinct functions, RNase MRP has been shown to be evolutionarily related to RNase P. Like eukaryotic RNase P, RNase MRP is not catalytically active without associated protein subunits.
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.
Ribonuclease P protein subunit p20 is an enzyme that in humans is encoded by the POP7 gene.
Ribonuclease P protein subunit p40 is an enzyme that in humans is encoded by the RPP40 gene.
Exosome component 8, also known as EXOSC8, is a human gene, the protein product of which is part of the exosome complex.
Exosome component 7, also known as EXOSC7, is a human gene, the protein product of which is part of the exosome complex.
Exosome component 3, also known as EXOSC3, is a human gene, which is part of the exosome complex.
Ribonuclease P/MRP protein subunit POP5 is an enzyme that in humans is encoded by the POP5 gene.
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.
Exosome component 4, also known as EXOSC4, is a human gene, which is part of the exosome complex.
3'-5' exoribonuclease CSL4 homolog is an enzyme that in humans is encoded by the EXOSC1 gene.
Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.
Ribonuclease P protein subunit p30 is an enzyme that in humans is encoded by the RPP30 gene.
Ribonuclease P protein subunit p38 is an enzyme that in humans is encoded by the RPP38 gene.
Ribonuclease P protein subunit p14 is an enzyme that in humans is encoded by the RPP14 gene.
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
U3 small nucleolar RNA-interacting protein 2 is a protein that in humans is encoded by the RRP9 gene.
Ribonuclease P protein subunit p29 is an enzyme that in humans is encoded by the POP4 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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