Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9692 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Protein only RNase P catalytic subunit |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PRORP |
SynonymsGene synonyms aliases
|
COXPD54, KIAA0391, MRPP3 |
ChromosomeChromosome number
|
14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q13.2 |
SNPsSNP information provided by dbSNP.
|
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.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
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 |
|
Sequence length |
583 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
26031901 |
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
25574825, 20953189 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
30166627 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
26198764 |
|