Human Gene MRPL43 (uc001ksa.1)
  Description: Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.
RefSeq Summary (NM_176794): 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 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr10:102,741,134-102,747,272 Size: 6,139 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr10:102,741,248-102,747,200 Size: 5,953 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:102,741,134-102,747,272)mRNA (may differ from genome)Protein (235 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MRPL43
CDC HuGE Published Literature: MRPL43

-  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

+  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 -18.7072-0.260 Picture PostScript Text
3' UTR -20.60114-0.181 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

ModBase Predicted Comparative 3D Structure on C9J5Q3
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 Details     
Gene Sorter     
      
      
      

-  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.
JD091026 - Sequence 72050 from Patent EP1572962.
JD082763 - Sequence 63787 from Patent EP1572962.
JD509558 - Sequence 490582 from Patent EP1572962.
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.
JD239965 - Sequence 220989 from Patent EP1572962.
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.
KJ906368 - Synthetic construct Homo sapiens clone ccsbBroadEn_16038 MRPL43 gene, encodes complete protein.
AK291069 - Homo sapiens cDNA FLJ76392 complete cds, highly similar to Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), transcript variant 1, mRNA.
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.

-  Other Names for This Gene
  Alternate Gene Symbols: C9J5Q3, C9J5Q3_HUMAN, hCG_24670, NM_176794, NP_789764
UCSC ID: uc001ksa.1
RefSeq Accession: NM_176794
Protein: C9J5Q3 CCDS: CCDS7504.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_176794.1
exon count: 6CDS single in 3' UTR: no RNA size: 894
ORF size: 708CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1583.00frame shift in genome: no % Coverage: 100.00
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.