Human Gene MRPS16 (ENST00000372945.8_7) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein S16 (from RefSeq NM_016065.4)
Gencode Transcript: ENST00000372945.8_7
Gencode Gene: ENSG00000182180.14_11
Transcript (Including UTRs)
   Position: hg19 chr10:75,008,607-75,012,402 Size: 3,796 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr10:75,010,610-75,012,240 Size: 1,631 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:75,008,607-75,012,402)mRNA (may differ from genome)Protein (137 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RT16_HUMAN
DESCRIPTION: RecName: Full=28S ribosomal protein S16, mitochondrial; Short=MRP-S16; Short=S16mt; Flags: Precursor;
SUBUNIT: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins.
SUBCELLULAR LOCATION: Mitochondrion.
DISEASE: Defects in MRPS16 are the cause of combined oxidative phosphorylation deficiency type 2 (COXPD2) [MIM:610498]. Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases. COXPD2 symptoms include fatal neonatal metabolic acidosis with agenesis of the corpus callosum.
SIMILARITY: Belongs to the ribosomal protein S16P family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRPS16";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MRPS16
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 2* (1369)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.16 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1150.94 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.00162-0.451 Picture PostScript Text
3' UTR -750.202003-0.375 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
IPR000307 - Ribosomal_S16
IPR023803 - Ribosomal_S16_dom

Pfam Domains:
PF00886 - Ribosomal protein S16

SCOP Domains:
54565 - Ribosomal protein S16

ModBase Predicted Comparative 3D Structure on Q9Y3D3
FrontTopSide
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 orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding

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:0005829 cytosol
GO:0005840 ribosome


-  Descriptions from all associated GenBank mRNAs
  HQ448056 - Synthetic construct Homo sapiens clone IMAGE:100071435; CCSB012648_02 mitochondrial ribosomal protein S16 (MRPS16) gene, encodes complete protein.
KJ893781 - Synthetic construct Homo sapiens clone ccsbBroadEn_03175 MRPS16 gene, encodes complete protein.
AK094162 - Homo sapiens cDNA FLJ36843 fis, clone ASTRO2012552, highly similar to DnaJ homolog subfamily C member 9.
AK303204 - Homo sapiens cDNA FLJ58442 complete cds, highly similar to 28S ribosomal protein S16, mitochondrial precursor (S16mt).
AK025715 - Homo sapiens cDNA: FLJ22062 fis, clone HEP10276, highly similar to AF151890 Homo sapiens CGI-132 protein mRNA.
AK098291 - Homo sapiens cDNA FLJ40972 fis, clone UTERU2012938.
JD293527 - Sequence 274551 from Patent EP1572962.
JD413789 - Sequence 394813 from Patent EP1572962.
JD463217 - Sequence 444241 from Patent EP1572962.
JD337676 - Sequence 318700 from Patent EP1572962.
JD371334 - Sequence 352358 from Patent EP1572962.
JD514481 - Sequence 495505 from Patent EP1572962.
JD059658 - Sequence 40682 from Patent EP1572962.
JD414542 - Sequence 395566 from Patent EP1572962.
JD524753 - Sequence 505777 from Patent EP1572962.
JD352538 - Sequence 333562 from Patent EP1572962.
DQ573540 - Homo sapiens piRNA piR-41652, complete sequence.
JD448607 - Sequence 429631 from Patent EP1572962.
JD463216 - Sequence 444240 from Patent EP1572962.
JD337675 - Sequence 318699 from Patent EP1572962.
JD413788 - Sequence 394812 from Patent EP1572962.
JD293414 - Sequence 274438 from Patent EP1572962.
JD523078 - Sequence 504102 from Patent EP1572962.
BC021106 - Homo sapiens mitochondrial ribosomal protein S16, mRNA (cDNA clone MGC:31855 IMAGE:5020046), complete cds.
AF151890 - Homo sapiens CGI-132 protein mRNA, complete cds.
AB049948 - Homo sapiens MRPS16 mRNA for mitochondrial ribosomal protein S16, complete cds.
JD376157 - Sequence 357181 from Patent EP1572962.
AB529029 - Synthetic construct DNA, clone: pF1KB3416, Homo sapiens MRPS16 gene for mitochondrial ribosomal protein S16, without stop codon, in Flexi system.

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

Protein Q9Y3D3 (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: B4E032, CGI-132, ENST00000372945.1, ENST00000372945.2, ENST00000372945.3, ENST00000372945.4, ENST00000372945.5, ENST00000372945.6, ENST00000372945.7, NM_016065, Q96Q60, Q9Y3D3, RPMS16, RT16_HUMAN, uc318kiq.1, uc318kiq.2
UCSC ID: ENST00000372945.8_7
RefSeq Accession: NM_016065.4
Protein: Q9Y3D3 (aka RT16_HUMAN)

-  Gene Model Information
  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.