PRORP
entrez
9692
canonical
uniprot
O15091
canonical
ensembl
ENSG00000100890
resolver
ensembl
ENSG00000258790
resolver
ensp
ENSP00000250377
resolver
ensp
ENSP00000324697
resolver
ensp
ENSP00000440915
resolver
ensp
ENSP00000474299
resolver
ensp
ENSP00000474620
resolver
genesymbol
PRORP
resolver
genesymbol_syn
KIAA0391
resolver
genesymbol_syn
MRPP3
resolver
hgnc
HGNC:19958
resolver
uniprot
B4DXD9
resolver
uniprot
B4E0S8
resolver
uniprot
B4E211
resolver
uniprot
C4AM93
resolver
uniprot
D3DS99
resolver
uniprot
D3DSA1
resolver
uniprot
Q86SZ4
resolver
uniprot
Q86YB5
resolver
uniprot
Q8N5L5
resolver
uniprot_entry
MRPP3_HUMAN
resolver
uniprot_sec
B4DXD9
resolver
uniprot_sec
B4E0S8
resolver
uniprot_sec
B4E211
resolver
uniprot_sec
C4AM93
resolver
uniprot_sec
D3DS99
resolver
uniprot_sec
D3DSA1
resolver
uniprot_sec
Q86SZ4
resolver
uniprot_sec
Q86YB5
resolver
uniprot_sec
Q8N5L5
resolver
amino_acid_sequence
MTFYLFGIRSFPKLWKSPYLGLGPGHSYVSLFLADRCGIRNQQRLFSLKTMSPQNTKATNLIAKARYLRKDEGSNKQVYSVPHFFLAGAAKERSQMNSQTEDHALAPVRNTIQLPTQPLNSEEWDKLKEDLKENTGKTSFESWIISQMAGCHSSIDVAKSLLAWVAAKNNGIVSYDLLVKYLYLCVFHMQTSEVIDVFEIMKARYKTLEPRGYSLLIRGLIHSDRWREALLLLEDIKKVITPSKKNYNDCIQGALLHQDVNTAWNLYQELLGHDIVPMLETLKAFFDFGKDIKDDNYSNKLLDILSYLRNNQLYPGESFAHSIKTWFESVPGKQWKGQFTTVRKSGQCSGCGKTIESIQLSPEEYECLKGKIMRDVIDGGDQYRKTTPQELKRFENFIKSRPPFDVVIDGLNVAKMFPKVRESQLLLNVVSQLAKRNLRLLVLGRKHMLRRSSQWSRDEMEEVQKQASCFFADDISEDDPFLLYATLHSGNHCRFITRDLMRDHKACLPDAKTQRLFFKWQQGHQLAIVNRFPGSKLTFQRILSYDTVVQTTGDSWHIPYDEDLVERCSCEVPTKWLCLHQKT
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737]: An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. {ECO:0000269|PubMed:34715011}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.26.5
uniprot
proteins
function
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 presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends (PubMed:25953853). {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:25953853, ECO:0000269|PubMed:34715011}.
uniprot
proteins
mass_dalton
67315
uniprot
proteins
mutagenesis
MUTAGEN 409; /note="D->N: Abolishes ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 478; /note="D->N: Abolishes ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 479; /note="D->N: Abolishes ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 480; /note="P->G: Does not affect ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 498; /note="R->D,N: Does not affect ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 499; /note="D->N: Abolishes ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853"; MUTAGEN 569; /note="S->A: Does not affect ribonuclease activity."; /evidence="ECO:0000269|PubMed:25953853
uniprot
proteins
post_translational_modification
PTM: Degraded by LONP1 following mitochondrial unfolded protein response, probably leading to inhibit translation in mitochondrion. {ECO:0000269|PubMed:27350246}.
uniprot
proteins
protein_family
P subfamily
uniprot
proteins
protein_family
PPR family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18984158
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25953853
uniprot
proteins
pubmed
27350246
uniprot
proteins
pubmed
34715011
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
583
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18984158}.
uniprot
proteins