Human Gene MRPL43 (ENST00000318364.13_6) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein L43, transcript variant 1 (from RefSeq NM_032112.3)
Gencode Transcript: ENST00000318364.13_6
Gencode Gene: ENSG00000055950.17_13
Transcript (Including UTRs)
   Position: hg19 chr10:102,746,026-102,747,254 Size: 1,229 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr10:102,746,491-102,747,200 Size: 710 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:102,746,026-102,747,254)mRNA (may differ from genome)Protein (159 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RM43_HUMAN
DESCRIPTION: RecName: Full=39S ribosomal protein L43, mitochondrial; Short=L43mt; Short=MRP-L43; AltName: Full=Mitochondrial ribosomal protein bMRP36a; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: High relative levels in skeletal muscle and testis. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with PEO1.
SIMILARITY: Belongs to the ribosomal protein S25/L51 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: MRPL43
Diseases sorted by gene-association score: spastic paraplegia 45, autosomal recessive (4)

-  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: 65.58 RPKM in Testis
Total median expression: 1654.22 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.2054-0.207 Picture PostScript Text
3' UTR -145.90465-0.314 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
IPR007741 - Ribosome/NADH_DH
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF05047 - Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

SCOP Domains:
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on Q8N983
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 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:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005761 mitochondrial ribosome
GO:0005762 mitochondrial large ribosomal subunit
GO:0005840 ribosome


-  Descriptions from all associated GenBank mRNAs
  LF211344 - JP 2014500723-A/18847: Polycomb-Associated Non-Coding RNAs.
AK095556 - Homo sapiens cDNA FLJ38237 fis, clone FCBBF2005637.
BC041165 - Homo sapiens mitochondrial ribosomal protein L43, mRNA (cDNA clone MGC:48892 IMAGE:5590251), complete cds.
AK300237 - Homo sapiens cDNA FLJ61386 complete cds, highly similar to Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), transcript variant 4, mRNA.
CU691974 - Synthetic construct Homo sapiens gateway clone IMAGE:100021069 5' read MRPL43 mRNA.
HQ448543 - Synthetic construct Homo sapiens clone IMAGE:100071979; CCSB011293_01 mitochondrial ribosomal protein L43 (MRPL43) gene, encodes complete protein.
KJ895004 - Synthetic construct Homo sapiens clone ccsbBroadEn_04398 MRPL43 gene, encodes complete protein.
AF086122 - Homo sapiens full length insert cDNA clone ZA78A09.
BC053373 - Homo sapiens mitochondrial ribosomal protein L43, mRNA (cDNA clone MGC:61563 IMAGE:6020112), complete cds.
CU690970 - Synthetic construct Homo sapiens gateway clone IMAGE:100021577 5' read MRPL43 mRNA.
KJ906369 - Synthetic construct Homo sapiens clone ccsbBroadEn_16039 MRPL43 gene, encodes complete protein.
BC052639 - Homo sapiens mitochondrial ribosomal protein L43, mRNA (cDNA clone MGC:61576 IMAGE:6501303), complete cds.
AB049656 - Homo sapiens bMRP36a mRNA for mitochondrial ribosomal protein bMRP36a, complete cds.
BC015905 - Homo sapiens mitochondrial ribosomal protein L43, mRNA (cDNA clone MGC:17989 IMAGE:3921157), complete cds.
BC031287 - Homo sapiens mitochondrial ribosomal protein L43, mRNA (cDNA clone IMAGE:5299038), partial cds.
JD057578 - Sequence 38602 from Patent EP1572962.
JD429820 - Sequence 410844 from Patent EP1572962.
DQ595212 - Homo sapiens piRNA piR-61324, complete sequence.
JD159979 - Sequence 141003 from Patent EP1572962.
JD488264 - Sequence 469288 from Patent EP1572962.
JD303375 - Sequence 284399 from Patent EP1572962.
JD264893 - Sequence 245917 from Patent EP1572962.
KJ906368 - Synthetic construct Homo sapiens clone ccsbBroadEn_16038 MRPL43 gene, encodes complete protein.
JD400289 - Sequence 381313 from Patent EP1572962.
JD537520 - Sequence 518544 from Patent EP1572962.
JD446907 - Sequence 427931 from Patent EP1572962.
AK291069 - Homo sapiens cDNA FLJ76392 complete cds, highly similar to Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), transcript variant 1, mRNA.
DQ595894 - Homo sapiens piRNA piR-62006, complete sequence.
CU677499 - Synthetic construct Homo sapiens gateway clone IMAGE:100021045 5' read MRPL43 mRNA.
KJ906367 - Synthetic construct Homo sapiens clone ccsbBroadEn_16037 MRPL43 gene, encodes complete protein.
CU690928 - Synthetic construct Homo sapiens gateway clone IMAGE:100021574 5' read MRPL43 mRNA.
MA446921 - JP 2018138019-A/18847: Polycomb-Associated Non-Coding RNAs.

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

Protein Q8N983 (Reactome details) participates in the following event(s):

R-HSA-5389839 39S subunit binds 28S subunit:mRNA:fMet-tRNA
R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits
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: B1AL06, B1AL07, B1AL09, B1AL10, C9J5Q3, D3DR71, ENST00000318364.1, ENST00000318364.10, ENST00000318364.11, ENST00000318364.12, ENST00000318364.2, ENST00000318364.3, ENST00000318364.4, ENST00000318364.5, ENST00000318364.6, ENST00000318364.7, ENST00000318364.8, ENST00000318364.9, NM_032112, Q5JW06, Q7Z719, Q7Z7H6, Q86XN1, Q8N983, Q9BYC7, RM43_HUMAN, uc317qlu.1, uc317qlu.2
UCSC ID: ENST00000318364.13_6
RefSeq Accession: NM_032112.3
Protein: Q8N983 (aka RM43_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.