POP1 (gene)

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

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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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]