Gene Gene information from NCBI Gene database.
Entrez ID 10799
Gene name Ribonuclease P/MRP subunit p40
Gene symbol RPP40
Synonyms (NCBI Gene)
RNASEP1bA428J1.3
Chromosome 6
Chromosome location 6p25.1
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT023880 hsa-miR-1-3p Proteomics 18668040
MIRT028558 hsa-miR-30a-5p Proteomics 18668040
MIRT625685 hsa-miR-4282 HITS-CLIP 23824327
MIRT618673 hsa-miR-548b-3p HITS-CLIP 23824327
MIRT618672 hsa-miR-4511 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000171 Function Ribonuclease MRP activity IBA
GO:0000172 Component Ribonuclease MRP complex IBA
GO:0000447 Process Endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0001682 Process TRNA 5'-leader removal IBA
GO:0001682 Process TRNA 5'-leader removal IDA 30454648
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606117 20992 ENSG00000124787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75818
Protein name Ribonuclease P protein subunit p40 (RNaseP protein p40) (RNase P subunit 1)
Protein function Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:9630247). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed
PDB 6AHR , 6AHU , 6AHV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08584 Ribonuc_P_40 75 346 Ribonuclease P 40kDa (Rpp40) subunit Family
Sequence
Sequence length 363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   tRNA processing in the nucleus
Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations