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
247635892014High-resolution genomic analysis of human mitochondrial RNA sequence variation.34
259538532015Structure of the nuclease subunit of human mitochondrial RNase P.16
196245712009Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.4
196245712009Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.4
298806402018Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.4
237552572013The amyloid-β-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.1

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)