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 encod... See more...

Aliases for MRPL58 Gene

Aliases for MRPL58 Gene

  • Mitochondrial Ribosomal Protein L58 2 3 5
  • DS-1 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML62 3 4
  • Immature Colon Carcinoma Transcript 1 Protein 3 4
  • Peptidyl-TRNA Hydrolase ICT1, Mitochondrial 3 4
  • 39S Ribosomal Protein L58, Mitochondrial 3 4
  • Digestion Substraction 1 3 4
  • MRP-L58 3 4
  • ICT1 3 4
  • DS1 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ICT1 3
  • Immature Colon Carcinoma Transcript 1 2
  • EC 3.1.1.29 4
  • MRPL58 5

External Ids for MRPL58 Gene

Previous HGNC Symbols for MRPL58 Gene

  • ICT1

Previous GeneCards Identifiers for MRPL58 Gene

  • GC17P075013

Summaries for MRPL58 Gene

Entrez Gene Summary for MRPL58 Gene

  • 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]

GeneCards Summary for MRPL58 Gene

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.

UniProtKB/Swiss-Prot Summary for MRPL58 Gene

  • Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes.

Additional gene information for MRPL58 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL58 Gene

Genomics for MRPL58 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL58 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL58 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL58

Genomic Locations for MRPL58 Gene

Genomic Locations for MRPL58 Gene
chr17:75,012,670-75,021,261
(GRCh38/hg38)
Size:
8,592 bases
Orientation:
Plus strand
chr17:73,008,765-73,017,356
(GRCh37/hg19)
Size:
8,592 bases
Orientation:
Plus strand

Genomic View for MRPL58 Gene

Genes around MRPL58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL58 Gene

Proteins for MRPL58 Gene

  • Protein details for MRPL58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14197-ICT1_HUMAN
    Recommended name:
    Peptidyl-tRNA hydrolase ICT1, mitochondrial
    Protein Accession:
    Q14197
    Secondary Accessions:
    • B2RAD1
    • Q53HM7
    • Q53Y11

    Protein attributes for MRPL58 Gene

    Size:
    206 amino acids
    Molecular mass:
    23630 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503, PubMed:20186120). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for MRPL58 Gene

neXtProt entry for MRPL58 Gene

Post-translational modifications for MRPL58 Gene

  • Ubiquitination at Lys47 and Lys66
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL58 Gene

No data available for DME Specific Peptides for MRPL58 Gene

Domains & Families for MRPL58 Gene

Gene Families for MRPL58 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL58 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL58 Gene

GenScript: Design optimal peptide antigens:
  • Immature colon carcinoma transcript 1 protein (ICT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14197

UniProtKB/Swiss-Prot:

ICT1_HUMAN :
  • Belongs to the prokaryotic/mitochondrial release factor family. Mitochondrion-specific ribosomal protein mL62 subfamily.
Family:
  • Belongs to the prokaryotic/mitochondrial release factor family. Mitochondrion-specific ribosomal protein mL62 subfamily.
genes like me logo Genes that share domains with MRPL58: view

Function for MRPL58 Gene

Molecular function for MRPL58 Gene

UniProtKB/Swiss-Prot Function:
Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acyl-L-alpha-aminoacyl-tRNA = an N-acyl-L-amino acid + H(+) + tRNA; Xref=Rhea:RHEA:54448, Rhea:RHEA-COMP:10123, Rhea:RHEA-COMP:13883, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:59874, ChEBI:CHEBI:78442, ChEBI:CHEBI:138191; EC=3.1.1.29;.

Enzyme Numbers (IUBMB) for MRPL58 Gene

Phenotypes From GWAS Catalog for MRPL58 Gene

Gene Ontology (GO) - Molecular Function for MRPL58 Gene

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 --
genes like me logo Genes that share ontologies with MRPL58: view
genes like me logo Genes that share phenotypes with MRPL58: view

Animal Models for MRPL58 Gene

MGI Knock Outs for MRPL58:
  • Mrpl58 Mrpl58<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for MRPL58

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL58

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRPL58 Gene

Localization for MRPL58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL58 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL58 gene
Compartment Confidence
mitochondrion 5
nucleus 3
plasma membrane 2
extracellular 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL58 Gene

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 --
genes like me logo Genes that share ontologies with MRPL58: view

Pathways & Interactions for MRPL58 Gene

genes like me logo Genes that share pathways with MRPL58: view

Gene Ontology (GO) - Biological Process for MRPL58 Gene

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 --
genes like me logo Genes that share ontologies with MRPL58: view

No data available for SIGNOR curated interactions for MRPL58 Gene

Drugs & Compounds for MRPL58 Gene

(1) Drugs for MRPL58 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with MRPL58: view

Transcripts for MRPL58 Gene

mRNA/cDNA for MRPL58 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL58

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL58 Gene

No ASD Table

Relevant External Links for MRPL58 Gene

GeneLoc Exon Structure for
MRPL58

Expression for MRPL58 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL58

mRNA Expression by UniProt/SwissProt for MRPL58 Gene:

Q14197-ICT1_HUMAN
Tissue specificity: Down-regulated during the in vitro differentiation of HT29-D4 colon carcinoma cells.

Evidence on tissue expression from TISSUES for MRPL58 Gene

  • Skin(2.9)
  • Nervous system(2.6)
  • Kidney(2.6)
  • Liver(2.6)
  • Muscle(2.5)
  • Spleen(2.5)
  • Heart(2.4)
  • Blood(2.4)
  • Intestine(2.3)
  • Lymph node(2.3)
  • Bone marrow(2.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MRPL58: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL58 Gene

Orthologs for MRPL58 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPL58 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ICT1 30 31
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ICT1 31
  • 84 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ICT1 30 31
  • 83.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ict1 30 31
  • 81.73 (n)
OneToOne
Mrpl58 17
Rat
(Rattus norvegicus)
Mammalia Ict1 30
  • 81.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia ICT1 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ICT1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ICT1 30 31
  • 63.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ICT1 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ict1 30
  • 60.34 (n)
Str.10297 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100149182 30
  • 57.86 (n)
ICT1 31
  • 44 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6094 30 31
  • 49.8 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008425 30
  • 48.08 (n)
Worm
(Caenorhabditis elegans)
Secernentea R02F2.9 30 31
  • 46.91 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 27 (a)
OneToOne
PTH4 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G62850 30
  • 48.48 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0249200 30
  • 49.52 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.345 31
  • 33 (a)
OneToOne
Species where no ortholog for MRPL58 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MRPL58 Gene

ENSEMBL:
Gene Tree for MRPL58 (if available)
TreeFam:
Gene Tree for MRPL58 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL58: view image

Paralogs for MRPL58 Gene

Paralogs for MRPL58 Gene

genes like me logo Genes that share paralogs with MRPL58: view

Variants for MRPL58 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL58 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs10512599 - p.Leu77Phe
rs34496172 - p.Thr122Met
rs3744206 - p.Arg8Pro

Additional dbSNP identifiers (rs#s) for MRPL58 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL58 Gene

Variant ID Type Subtype PubMed ID
nsv1056788 CNV gain 25217958
nsv833540 CNV loss 17160897

Variation tolerance for MRPL58 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL58 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL58 Gene

Disorders for MRPL58 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MRPL58 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MRPL58: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL58 Gene

Publications for MRPL58 Gene

  1. Identification of mRNAs that show modulated expression during colon carcinoma cell differentiation. (PMID: 8575443) van Belzen N … Bosman FT (European journal of biochemistry 1995) 2 3 4 23
  2. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PMID: 20186120) Richter R … Chrzanowska-Lightowlers ZM (The EMBO journal 2010) 2 3 4
  3. Human Cells Require Non-stop Ribosome Rescue Activity in Mitochondria. (PMID: 27029019) Feaga HA … Keiler KC (PLoS genetics 2016) 2 3
  4. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  5. Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome. (PMID: 23908630) Koc EC … Koc H (Frontiers in physiology 2013) 3 4

Products for MRPL58 Gene

  • Signalway Proteins for MRPL58

Sources for MRPL58 Gene