POP1 (gene)

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesPOP1, POP1 homolog, ribonuclease P/MRP subunit, ANXD2
End98,159,835 bp[1]
Quick facts Identifiers, Aliases ...
POP1
Identifiers
AliasesPOP1, POP1 homolog, ribonuclease P/MRP subunit, ANXD2
External IDsOMIM: 602486; MGI: 1914974; HomoloGene: 41000; GeneCards: POP1; OMA:POP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
Close

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

Further reading

Related Articles

Wikiwand AI