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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 responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
MRPL58 (Mitochondrial Ribosomal Protein L58) is a Protein Coding gene. Diseases associated with MRPL58 include 46,Xy Sex Reversal 2 and Urethral Calculus. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. An important paralog of this gene is MTRF1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003747 | translation release factor activity | IEA | -- |
GO:0004045 | aminoacyl-tRNA hydrolase activity | IEA,IDA | 20186120 |
GO:0016150 | translation release factor activity, codon nonspecific | IDA | 20186120 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 20186120 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005762 | mitochondrial large ribosomal subunit | IBA,IDA | 20186120 |
GO:0005840 | ribosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006415 | translational termination | IEA | -- |
GO:0070125 | mitochondrial translational elongation | TAS | -- |
GO:0070126 | mitochondrial translational termination | IDA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ICT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ICT1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ICT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ict1 30 31 |
|
OneToOne | |
Mrpl58 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Ict1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ICT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ICT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ICT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ICT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ict1 30 |
|
||
Str.10297 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100149182 30 |
|
||
ICT1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6094 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008425 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | R02F2.9 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToOne | |
PTH4 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G62850 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0249200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.345 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10512599 | - | p.Leu77Phe | |||
rs34496172 | - | p.Thr122Met | |||
rs3744206 | - | p.Arg8Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1056788 | CNV | gain | 25217958 |
nsv833540 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
46,xy sex reversal 2 |
|
|
urethral calculus |
|
|
acute diarrhea |
|
|
noonan syndrome 1 |
|
|
arthrogryposis, distal, type 6 |
|
|