PRORP (protein only RNase P catalytic subunit)

2014-11-01  

Identity

HGNC
LOCATION
14q13.2
LOCUSID
ALIAS
KIAA0391,MRPP3
FUSION GENES

Other Information

Locus ID:

NCBI: 9692
MIM: 609947
HGNC: 19958
Ensembl: ENSG00000258790

Variants:

dbSNP: 9692
ClinVar: 9692
TCGA: ENSG00000258790
COSMIC: PRORP

RNA/Proteins

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA processing in the mitochondrionREACTOMER-HSA-6785470
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD25963335
PA451955zileutonChemicalClinicalAnnotation, VariantAnnotationassociatedPD25963335

References

Pubmed IDYearTitleCitations
382624972024Comprehensive functional interrogation of susceptibility loci in GWASs identified KIAA0391 as a novel oncogenic driver via regulating pyroptosis in NSCLC.0
382624972024Comprehensive functional interrogation of susceptibility loci in GWASs identified KIAA0391 as a novel oncogenic driver via regulating pyroptosis in NSCLC.0
375588082023Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.2
375588082023Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.2
344896092021Structural basis of RNA processing by human mitochondrial RNase P.32
347150112021Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.23
344896092021Structural basis of RNA processing by human mitochondrial RNase P.32
347150112021Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.23
298806402018Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.18
298806402018Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.18
259538532015Structure of the nuclease subunit of human mitochondrial RNase P.29
259538532015Structure of the nuclease subunit of human mitochondrial RNase P.29
247635892014High-resolution genomic analysis of human mitochondrial RNA sequence variation.53
247635892014High-resolution genomic analysis of human mitochondrial RNA sequence variation.53
237552572013The amyloid-β-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.4

Citation

Dessen P

PRORP (protein only RNase P catalytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64855/prorp-(protein-only-rnase-p-catalytic-subunit)