Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	9692
Gene name	Protein only RNase P catalytic subunit
Gene symbol	PRORP
Synonyms (NCBI Gene)	COXPD54KIAA0391MRPP3
Chromosome	14
Chromosome location	14q13.2

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

21 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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	29880640
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030678	Component	Mitochondrial ribonuclease P complex	IBA
GO:0030678	Component	Mitochondrial ribonuclease P complex	IDA	25953853
GO:0030678	Component	Mitochondrial ribonuclease P complex	IPI	29880640
GO:0030678	Component	Mitochondrial ribonuclease P complex	TAS	23042678
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097745	Process	Mitochondrial tRNA 5'-end processing	IBA
GO:0097745	Process	Mitochondrial tRNA 5'-end processing	IDA	25953853, 29880640

MIM	HGNC	e!Ensembl
609947	19958	ENSG00000100890

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

Reactome Pathway
tRNA processing in the mitochondrion
tRNA modification in the mitochondrion
rRNA processing in the mitochondrion

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood onset sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs764714439, rs777185638	RCV001873232 RCV001869241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 54	Likely pathogenic; Pathogenic	rs759407337, rs764714439, rs777185638, rs1169927428	RCV002510554 RCV001824884 RCV001824883 RCV001824882	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lactic acidosis	Likely pathogenic; Pathogenic	rs764714439, rs777185638	RCV001873232 RCV001869241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy	Likely pathogenic; Pathogenic	rs764714439, rs777185638	RCV001873232 RCV001869241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome 1	Likely pathogenic; Pathogenic	rs1169927428	RCV000855453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (16)
ATOPIC ECZEMA	—	GWAS catalog	34454985, 37794016, 38663478, 40164604	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	34033851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	37262302	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37262302	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	27498866, 31455609, 34715011, 37558808	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	34715011	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	34715011	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	34033851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRORP-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	20953189, 25574825, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (19)
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20953189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26031901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 1	Combined oxidative phosphorylation deficiency	Pubtator	37558808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 3	Combined oxidative phosphorylation deficiency	Pubtator	37558808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 4	Combined oxidative phosphorylation deficiency	Pubtator	37558808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19624571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19624571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19624571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	34715011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	20136554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	37558808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34715011	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	19624571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	20136554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	20953189, 32221480	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASDB_DG	20953189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	20953189, 25574825		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30166627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TRMT10C	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	3	["tRNA processing in the mitochondrion","tRNA modification in the mitochondrion","rRNA processing in the mitochondrion"]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
RMND1	4	["Combined oxidative phosphorylation deficiency","Mitochondrial disease","Perrault syndrome","Xx gonadal dysgenesis syndrome"]	0	[]	9	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)","Disgenet (Perrault syndrome)","Orphanet (Perrault syndrome)","Disgenet (Xx gonadal dysgenesis syndrome)"]
ELAC2	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	2	["tRNA processing in the mitochondrion","rRNA processing in the mitochondrion"]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
TIMM22	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	0	[]	6	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","GenCC (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
MRPS28	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	0	[]	7	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","GenCC (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)","GWAS catalog (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]

PRORP (protein only RNase P catalytic subunit)

Save This Analysis