Human Gene MRPS12 (ENST00000308018.9_4) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein S12, transcript variant 2 (from RefSeq NM_033362.4)
Gencode Transcript: ENST00000308018.9_4
Gencode Gene: ENSG00000128626.12_7
Transcript (Including UTRs)
   Position: hg19 chr19:39,421,584-39,423,808 Size: 2,225 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr19:39,421,935-39,423,340 Size: 1,406 Coding Exon Count: 2 

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 (chr19:39,421,584-39,423,808)mRNA (may differ from genome)Protein (138 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RT12_HUMAN
DESCRIPTION: RecName: Full=28S ribosomal protein S12, mitochondrial; Short=MRP-S12; Short=S12mt; AltName: Full=MT-RPS12; Flags: Precursor;
SUBUNIT: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins.
INTERACTION: P58062:SPINK7; NbExp=3; IntAct=EBI-712205, EBI-1182445;
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the ribosomal protein S12P family.

-  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: MRPS12
Diseases sorted by gene-association score: leber optic atrophy (1), nonsyndromic deafness (1)

-  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: 48.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1016.75 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 -21.4074-0.289 Picture PostScript Text
3' UTR -172.60468-0.369 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
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like
IPR006032 - Ribosomal_S12/S23
IPR005679 - Ribosomal_S12_bac

Pfam Domains:
PF00164 - Ribosomal protein S12/S23

SCOP Domains:
50249 - Nucleic acid-binding proteins

ModBase Predicted Comparative 3D Structure on O15235
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
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:0005761 mitochondrial ribosome
GO:0005763 mitochondrial small ribosomal subunit
GO:0005840 ribosome
GO:0015935 small ribosomal subunit


-  Descriptions from all associated GenBank mRNAs
  BC006424 - Homo sapiens mitochondrial ribosomal protein S12, mRNA (cDNA clone MGC:12778 IMAGE:3627808), complete cds.
Y11681 - Homo sapiens mRNA for mitochondrial ribosomal protein S12.
BC007499 - Homo sapiens mitochondrial ribosomal protein S12, mRNA (cDNA clone MGC:3818 IMAGE:2959394), complete cds.
BC001617 - Homo sapiens mitochondrial ribosomal protein S12, mRNA (cDNA clone MGC:2013 IMAGE:3547013), complete cds.
JD057688 - Sequence 38712 from Patent EP1572962.
JD142224 - Sequence 123248 from Patent EP1572962.
CR407609 - Homo sapiens full open reading frame cDNA clone RZPDo834C1016D for gene MRPS12, mitochondrial ribosomal protein S12 complete cds, without stopcodon.
KJ892050 - Synthetic construct Homo sapiens clone ccsbBroadEn_01444 MRPS12 gene, encodes complete protein.
JD275871 - Sequence 256895 from Patent EP1572962.
JD156030 - Sequence 137054 from Patent EP1572962.
JD402396 - Sequence 383420 from Patent EP1572962.
JD520461 - Sequence 501485 from Patent EP1572962.
JD173271 - Sequence 154295 from Patent EP1572962.
JD276839 - Sequence 257863 from Patent EP1572962.

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

Protein O15235 (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: ENST00000308018.1, ENST00000308018.2, ENST00000308018.3, ENST00000308018.4, ENST00000308018.5, ENST00000308018.6, ENST00000308018.7, ENST00000308018.8, NM_033362, O15235, Q53X98, RPMS12, RPSM12, RT12_HUMAN, uc317oex.1, uc317oex.2
UCSC ID: ENST00000308018.9_4
RefSeq Accession: NM_033362.4
Protein: O15235 (aka RT12_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.