PRORP (protein only RNase P catalytic subunit)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9692
Gene name Gene Name - the full gene name approved by the HGNC.
Protein only RNase P catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRORP
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD54, KIAA0391, MRPP3
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.2
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609947 19958 ENSG00000100890
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 54 rs1169927428, rs764714439, rs777185638 N/A
Perrault Syndrome perrault syndrome 1 rs1169927428 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease 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