Human Gene MRPS18A (uc003ovy.2) Description and Page Index
  Description: Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_018135): Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010].
Transcript (Including UTRs)
   Position: hg19 chr6:43,638,934-43,655,549 Size: 16,616 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr6:43,639,499-43,655,516 Size: 16,018 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:43,638,934-43,655,549)mRNA (may differ from genome)Protein (196 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=28S ribosomal protein S18a, mitochondrial; Short=MRP-S18-a; Short=Mrps18a; Short=S18mt-a; AltName: Full=28S ribosomal protein S18-3, mitochondrial; Short=MRP-S18-3; Flags: Precursor;
SUBUNIT: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins.
SIMILARITY: Belongs to the ribosomal protein S18P family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MRPS18A
CDC HuGE Published Literature: MRPS18A
Positive Disease Associations: Glucose
Related Studies:
  1. Glucose
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.75 RPKM in Muscle - Skeletal
Total median expression: 913.23 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.8033-0.085 Picture PostScript Text
3' UTR -245.70565-0.435 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001648 - Ribosomal_S18

Pfam Domains:
PF01084 - Ribosomal protein S18

SCOP Domains:
46911 - Ribosomal protein S18

ModBase Predicted Comparative 3D Structure on Q9NVS2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003735 structural constituent of ribosome

Biological Process:
GO:0006412 translation
GO:0032543 mitochondrial translation
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005622 intracellular
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005763 mitochondrial small ribosomal subunit
GO:0005840 ribosome
GO:0022627 cytosolic small ribosomal subunit

-  Descriptions from all associated GenBank mRNAs
  AK300757 - Homo sapiens cDNA FLJ52919 complete cds, highly similar to 28S ribosomal protein S18a, mitochondrial precursor.
AK001410 - Homo sapiens cDNA FLJ10548 fis, clone NT2RP2001969.
BC010364 - Homo sapiens mitochondrial ribosomal protein S18A, mRNA (cDNA clone MGC:13413 IMAGE:4248325), complete cds.
AB049952 - Homo sapiens MRPS18a mRNA for mitochondrial ribosomal protein S18a, complete cds.
DQ884400 - Homo sapiens clone BFC06023 mitochondrial ribosomal protein S18A mRNA, complete cds; nuclear gene for mitochondrial product.
CU679679 - Synthetic construct Homo sapiens gateway clone IMAGE:100023320 5' read MRPS18A mRNA.
HQ448153 - Synthetic construct Homo sapiens clone IMAGE:100071538; CCSB006351_02 mitochondrial ribosomal protein S18A (MRPS18A) gene, encodes complete protein.
KJ894147 - Synthetic construct Homo sapiens clone ccsbBroadEn_03541 MRPS18A gene, encodes complete protein.
AK307183 - Homo sapiens cDNA, FLJ97131.
JD267658 - Sequence 248682 from Patent EP1572962.
JD292994 - Sequence 274018 from Patent EP1572962.
JD074922 - Sequence 55946 from Patent EP1572962.
JD075600 - Sequence 56624 from Patent EP1572962.
JD181398 - Sequence 162422 from Patent EP1572962.
JD163354 - Sequence 144378 from Patent EP1572962.
DL491582 - Novel nucleic acids.
DL490179 - Novel nucleic acids.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NVS2 (Reactome details) participates in the following event(s):

R-HSA-5368279 MTIF3 binds 28S ribosomal subunit
R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits
R-HSA-5389849 28S subunit:MTIF3 binds MTIF2:GTP, mRNA, and formylMet-tRNA
R-HSA-5389839 39S subunit binds 28S subunit:mRNA:fMet-tRNA
R-HSA-5389848 TUFM:GTP:aminoacyl-tRNA binds 55S ribosome:mRNA:fMet-tRNA
R-HSA-5389857 Peptide transfer from P-site to A-site (peptide bond formation)
R-HSA-5389842 TUFM hydrolyzes GTP and TUFM:GDP dissociates from 55S ribosome
R-HSA-5419261 55S ribosome with peptidyl-tRNA in A site binds GFM1:GTP
R-HSA-5419281 MRRF binds 55S ribosome:mRNA:tRNA
R-HSA-5419279 Translocation of peptidyl-tRNA from A-site to P-site (and translocation of 55S ribosome by 3 bases along mRNA)
R-HSA-5419264 MTRF1L (MTRF1a) or ICT1 binds stop codon in 55S ribosome:mRNA:peptidyl-tRNA
R-HSA-5419277 GFM2:GTP binds 55S ribosome:mRNA:tRNA:MRRF releasing mRNA and tRNA
R-HSA-5368286 Mitochondrial translation initiation
R-HSA-5419276 Mitochondrial translation termination
R-HSA-5368287 Mitochondrial translation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A6XND3, NM_018135, NP_060605, Q5QPA4, Q9NVS2, RT18A_HUMAN
UCSC ID: uc003ovy.2
RefSeq Accession: NM_018135
Protein: Q9NVS2 (aka RT18A_HUMAN or R18A_HUMAN)
CCDS: CCDS4906.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_018135.3
exon count: 6CDS single in 3' UTR: no RNA size: 1207
ORF size: 591CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1361.00frame shift in genome: no % Coverage: 98.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.