Gene Gene information from NCBI Gene database.
Entrez ID 3396
Gene name Mitochondrial ribosomal protein L58
Gene symbol MRPL58
Synonyms (NCBI Gene)
DS-1DS1ICT1MRP-L58mL62
Chromosome 17
Chromosome location 17q25.1
Summary The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be r
miRNA miRNA information provided by mirtarbase database.
22
miRTarBase ID miRNA Experiments Reference
MIRT078651 hsa-miR-4464 PAR-CLIP 21572407
MIRT078656 hsa-miR-4748 PAR-CLIP 21572407
MIRT078647 hsa-miR-126-5p PAR-CLIP 21572407
MIRT545088 hsa-miR-549a PAR-CLIP 21572407
MIRT545087 hsa-miR-7854-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003747 Function Translation release factor activity IDA 33878294
GO:0003747 Function Translation release factor activity IEA
GO:0004045 Function Peptidyl-tRNA hydrolase activity IBA
GO:0004045 Function Peptidyl-tRNA hydrolase activity IDA 20186120
GO:0004045 Function Peptidyl-tRNA hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603000 5359 ENSG00000167862
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14197
Protein name Large ribosomal subunit protein mL62 (39S ribosomal protein L58, mitochondrial) (MRP-L58) (Digestion substraction 1) (DS-1) (Immature colon carcinoma transcript 1 protein) (Peptidyl-tRNA hydrolase ICT1, mitochondrial) (EC 3.1.1.29)
Protein function Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit (PubMed:20186120, PubMed:33878294). Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the terminat
PDB 3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7NQL , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00472 RF-1 66 201 RF-1 domain Family
Tissue specificity TISSUE SPECIFICITY: Down-regulated during the in vitro differentiation of HT29-D4 colon carcinoma cells. {ECO:0000269|PubMed:8575443}.
Sequence
Sequence length 206
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 24859971
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Associate 31849952
★☆☆☆☆
Found in Text Mining only
Gastroenteritis Associate 16415027, 27878638
★☆☆☆☆
Found in Text Mining only
Infections Stimulate 26794258
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 24859971
★☆☆☆☆
Found in Text Mining only
Rotavirus Infections Associate 32584905, 37569563
★☆☆☆☆
Found in Text Mining only