PRORP (protein only RNase P catalytic subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9692
Gene name Protein only RNase P catalytic subunit
Gene symbol PRORP
Synonyms (NCBI Gene)
COXPD54KIAA0391MRPP3
Chromosome 14
Chromosome location 14q13.2
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs764714439 ->A Likely-pathogenic Frameshift variant, coding sequence variant
rs777185638 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1169927428 C>G,T Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0001682 Process TRNA 5'-leader removal IBA
GO:0004518 Function Nuclease activity IEA
GO:0004526 Function Ribonuclease P activity IBA
GO:0004526 Function Ribonuclease P activity IDA 25953853
GO:0004526 Function Ribonuclease P activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609947 19958 ENSG00000100890
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15091
Protein name Mitochondrial ribonuclease P catalytic subunit (EC 3.1.26.5) (Mitochondrial ribonuclease P protein 3) (Mitochondrial RNase P protein 3) (Protein only RNase P catalytic subunit)
Protein function Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:25953853, PubMed:34715011). The presenc
PDB 4ROU , 4XGL , 4XGM , 7ONU , 8CBK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16953 PRORP 342 → 578 Protein-only RNase P Domain
Sequence 
MTFYLFGIRSFPKLWKSPYLGLGPGHSYVSLFLADRCGIRNQQRLFSLKTMSPQNTKATN
LIAKARYLRKDEGSNKQVYSVPHFFLAGAAKERSQMNSQTEDHALAPVRNTIQLPTQPLN
SEEWDKLKEDLKENTGKTSFESWIISQMAGCHSSIDVAKSLLAWVAAKNNGIVSYDLLVK
YLYLCVFHMQTSEVIDVFEIMKARYKTLEPRGYSLLIRGLIHSDRWREALLLLEDIKKVI
TPSKKNYNDCIQGALLHQDVNTAWNLYQELLGHDIVPMLETLKAFFDFGKDIKDDNYSNK
LLDILSYLRNNQLYPGESFAHSIKTWFESVPGKQWKGQFTTVRKSGQCSGCGKTIESIQL
SPEEYECLKGKIMRDVIDGGDQYRKTTPQELKRFENFIKSRPPFDVVIDGLNVAKMFPKV
RESQLLLNVVSQLAKRNLRLLVLGRKHMLRRSSQWSRDEMEEVQKQASCFFADDISEDDP
FLLYATLHSGNHCRFITRDLMRDHKACLPDAKTQRLFFKWQQGHQLAIVNRFPGSKLTFQ
RILSYDTVVQTTGDSWHIPYDEDLVERCSCEVPTKWLCLHQKT
Sequence length 583
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    tRNA processing in the mitochondrion
tRNA modification in the mitochondrion
rRNA processing in the mitochondrion
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood onset sensorineural hearing impairment Likely pathogenic; Pathogenic rs764714439, rs777185638 RCV001873232
RCV001869241
Combined oxidative phosphorylation deficiency 54 Likely pathogenic; Pathogenic rs759407337, rs764714439, rs777185638, rs1169927428 RCV002510554
RCV001824884
RCV001824883
RCV001824882
Lactic acidosis Likely pathogenic; Pathogenic rs764714439, rs777185638 RCV001873232
RCV001869241
Leukoencephalopathy Likely pathogenic; Pathogenic rs764714439, rs777185638 RCV001873232
RCV001869241
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PRORP-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs144536804, rs11156878, rs45626032, rs1306752806, rs771213124 RCV003941102
RCV003984534
RCV003933852
RCV003922325
RCV003932147
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 20953189
Combined Oxidative Phosphorylation Deficiency 1 Associate 37558808
Combined Oxidative Phosphorylation Deficiency 3 Associate 37558808
Combined Oxidative Phosphorylation Deficiency 4 Associate 37558808
Disease Associate 34715011
Hearing Loss Sensorineural Associate 34715011
Leukodystrophy Metachromatic Associate 37558808
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Associate 34715011
Mitochondrial Diseases Associate 34715011
Primary Ovarian Insufficiency Associate 34715011