This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 20... See more...

Aliases for MRPL18 Gene

Aliases for MRPL18 Gene

  • Mitochondrial Ribosomal Protein L18 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL18m 3 4
  • 39S Ribosomal Protein L18, Mitochondrial 3 4
  • MRP-L18 3 4
  • L18mt 3 4
  • HSPC071 3

External Ids for MRPL18 Gene

Previous GeneCards Identifiers for MRPL18 Gene

  • GC06P159650
  • GC06P160085
  • GC06P160043
  • GC06P160120
  • GC06P160181
  • GC06P157681
  • GC06P160210

Summaries for MRPL18 Gene

Entrez Gene Summary for MRPL18 Gene

  • This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]

GeneCards Summary for MRPL18 Gene

MRPL18 (Mitochondrial Ribosomal Protein L18) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome and 5S rRNA binding.

UniProtKB/Swiss-Prot Summary for MRPL18 Gene

  • Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA.

Gene Wiki entry for MRPL18 Gene

Additional gene information for MRPL18 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL18 Gene

Genomics for MRPL18 Gene

GeneHancer (GH) Regulatory Elements for MRPL18 Gene

Promoters and enhancers for MRPL18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J159787 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 564.1 +0.2 206 5.4 FOXK2 HNRNPK ZBTB40 EP300 SIN3A NRF1 MYC POLR2G SP1 PHF8 MRPL18 TCP1 HSALNG0054782 lnc-SOD2-5 WTAP LOC729603 PNLDC1
GH06J159759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 43.1 -28.1 -28109 4.2 ZBTB40 EP300 ZSCAN5C SIN3A NRF1 POLR2G SP1 NCOR1 TEAD4 FOS ACAT2 ENSG00000285441 SOD2-OT1 MRPL18 WTAP LOC729603 PNLDC1 SOD2
GH06J159725 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 39.8 -61.6 -61626 5.6 EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G USF1 SP1 WTAP lnc-TCP1-2 SOD2 MRPL18 TCP1 PNLDC1 ACAT2 SNORA29 SNORA20 LOC729603
GH06J159690 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.7 -96.4 -96413 5.8 FOXK2 HNRNPK CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 BCLAF1 SOD2 JA662193 lnc-WTAP-4 lnc-TCP1-5 WTAP MRPL18 PNLDC1 LOC729603 ACAT2 SNORA29
GH06J159805 Enhancer 1 Ensembl ENCODE 58.1 +16.5 16473 3.4 EP300 ZNF10 ZBTB25 MYC TEAD1 CEBPB CEBPG FOS JUND ZNF395 MRPL18 SNORA29 SNORA20 ACAT2 RF00017-5919 PNLDC1 piR-48854
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL18

Top Transcription factor binding sites by QIAGEN in the MRPL18 gene promoter:
  • Egr-2
  • IRF-1
  • Lmo2
  • Nkx2-5
  • p53
  • Pax-4a
  • SRY
  • TBP
  • USF-1

Genomic Locations for MRPL18 Gene

Genomic Locations for MRPL18 Gene
chr6:159,789,812-159,798,436
(GRCh38/hg38)
Size:
8,625 bases
Orientation:
Plus strand
chr6:160,210,844-160,219,468
(GRCh37/hg19)
Size:
8,625 bases
Orientation:
Plus strand

Genomic View for MRPL18 Gene

Genes around MRPL18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL18 Gene

Proteins for MRPL18 Gene

  • Protein details for MRPL18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0U6-RM18_HUMAN
    Recommended name:
    39S ribosomal protein L18, mitochondrial
    Protein Accession:
    Q9H0U6
    Secondary Accessions:
    • Q5TAP9
    • Q9NZW8

    Protein attributes for MRPL18 Gene

    Size:
    180 amino acids
    Molecular mass:
    20577 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25278503). 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 MRPL18 Gene

neXtProt entry for MRPL18 Gene

Post-translational modifications for MRPL18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL18 Gene

Domains & Families for MRPL18 Gene

Gene Families for MRPL18 Gene

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

Protein Domains for MRPL18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL18 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76688, highly similar to Homo sapiens HSPC071 mRNA (A8K9D2_HUMAN)
  • 39S ribosomal protein L18, mitochondrial (RM18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0U6

UniProtKB/Swiss-Prot:

RM18_HUMAN :
  • Belongs to the universal ribosomal protein uL18 family.
Family:
  • Belongs to the universal ribosomal protein uL18 family.
genes like me logo Genes that share domains with MRPL18: view

Function for MRPL18 Gene

Molecular function for MRPL18 Gene

UniProtKB/Swiss-Prot Function:
Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA.

Phenotypes From GWAS Catalog for MRPL18 Gene

Gene Ontology (GO) - Molecular Function for MRPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome NAS 11543634
GO:0008097 5S rRNA binding IDA 21685364
genes like me logo Genes that share ontologies with MRPL18: view
genes like me logo Genes that share phenotypes with MRPL18: view

Animal Models for MRPL18 Gene

MGI Knock Outs for MRPL18:
  • Mrpl18 Mrpl18<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRPL18 Gene

Localization for MRPL18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL18 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 MRPL18 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
nucleus 2
cytosol 2
peroxisome 0

Gene Ontology (GO) - Cellular Components for MRPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IBA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
genes like me logo Genes that share ontologies with MRPL18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL18 Gene

Pathways & Interactions for MRPL18 Gene

genes like me logo Genes that share pathways with MRPL18: view

Gene Ontology (GO) - Biological Process for MRPL18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA,NAS 11543634
GO:0035928 rRNA import into mitochondrion IDA 21685364
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL18: view

No data available for SIGNOR curated interactions for MRPL18 Gene

Drugs & Compounds for MRPL18 Gene

No Compound Related Data Available

Transcripts for MRPL18 Gene

mRNA/cDNA for MRPL18 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL18 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - -
SP7: - - -
SP8: -
SP9: -

Relevant External Links for MRPL18 Gene

GeneLoc Exon Structure for
MRPL18

Expression for MRPL18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL18 Gene

Protein differential expression in normal tissues from HIPED for MRPL18 Gene

This gene is overexpressed in Breast (10.4), Bone (7.6), Plasma (6.3), and Tlymphocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL18 Gene



Protein tissue co-expression partners for MRPL18 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL18

SOURCE GeneReport for Unigene cluster for MRPL18 Gene:

Hs.416998

Evidence on tissue expression from TISSUES for MRPL18 Gene

  • Nervous system(4.7)
  • Blood(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with MRPL18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL18 Gene

Orthologs for MRPL18 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL18 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL18 31 30
  • 87.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL18 31 30
  • 85.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl18 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Mrpl18 17 31 30
  • 82.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL18 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL18 31 30
  • 63.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL18 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl18 30
  • 63.56 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69054 30
zebrafish
(Danio rerio)
Actinopterygii mrpl18 31 30
  • 53.51 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL18 31 30
  • 49.74 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004709 30
  • 48.56 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-18 31
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5697 31
  • 25 (a)
OneToOne
Species where no ortholog for MRPL18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRPL18 Gene

ENSEMBL:
Gene Tree for MRPL18 (if available)
TreeFam:
Gene Tree for MRPL18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL18: view image

Paralogs for MRPL18 Gene

Pseudogenes.org Pseudogenes for MRPL18 Gene

genes like me logo Genes that share paralogs with MRPL18: view

No data available for Paralogs for MRPL18 Gene

Variants for MRPL18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL18 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1128670 - p.Arg6Gln

Additional dbSNP identifiers (rs#s) for MRPL18 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL18 Gene

Variant ID Type Subtype PubMed ID
esv22776 CNV gain 19812545
esv2759483 CNV gain 17122850

Variation tolerance for MRPL18 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL18 Gene

Disorders for MRPL18 Gene

Additional Disease Information for MRPL18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MRPL18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL18 Gene

Publications for MRPL18 Gene

  1. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc EC … Spremulli LL (The Journal of biological chemistry 2001) 2 3 4 54
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  3. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 54
  4. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 54
  5. Biological significance of 5S rRNA import into human mitochondria: role of ribosomal protein MRP-L18. (PMID: 21685364) Smirnov A … Tarassov I (Genes & development 2011) 3 4 54

Products for MRPL18 Gene

Sources for MRPL18 Gene