Human Gene MRPL40 (ENST00000333130.4_4) from GENCODE V47lift37
  Description: mitochondrial ribosomal protein L40, transcript variant 1 (from RefSeq NM_003776.4)
Gencode Transcript: ENST00000333130.4_4
Gencode Gene: ENSG00000185608.9_7
Transcript (Including UTRs)
   Position: hg19 chr22:19,420,068-19,423,598 Size: 3,531 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr22:19,420,078-19,423,485 Size: 3,408 Coding Exon Count: 4 

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 (chr22:19,420,068-19,423,598)mRNA (may differ from genome)Protein (206 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RM40_HUMAN
DESCRIPTION: RecName: Full=39S ribosomal protein L40, mitochondrial; Short=L40mt; Short=MRP-L40; AltName: Full=Nuclear localization signal-containing protein deleted in velocardiofacial syndrome; AltName: Full=Up-regulated in metastasis; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
TISSUE SPECIFICITY: Ubiquitous.

-  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: MRPL40
Diseases sorted by gene-association score: mrpl40-related disorder* (100), velocardiofacial syndrome (3)
* = 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: 23.30 RPKM in Thyroid
Total median expression: 599.18 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
3' UTR -26.30113-0.233 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
IPR019192 - Ribosomal_L28/L40_mit

Pfam Domains:
PF09812 - Mitochondrial ribosomal protein L28

ModBase Predicted Comparative 3D Structure on Q9NQ50
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 BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0009653 anatomical structure morphogenesis
GO:0070125 mitochondrial translational elongation
GO:0070126 mitochondrial translational termination

Cellular Component:
GO:0005634 nucleus
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
  DQ894633 - Synthetic construct Homo sapiens clone IMAGE:100009093; FLH177089.01L; RZPDo839C12123D mitochondrial ribosomal protein L40 (MRPL40) gene, encodes complete protein; nuclear gene for mitochondrial product.
DQ891455 - Synthetic construct clone IMAGE:100004085; FLH177092.01X; RZPDo839C12124D mitochondrial ribosomal protein L40 (MRPL40) gene, encodes complete protein; nuclear gene for mitochondrial product.
DQ891653 - Synthetic construct Homo sapiens clone IMAGE:100004283; FLH263503.01X; RZPDo839B09130D mitochondrial ribosomal protein L40 (MRPL40) gene, encodes complete protein; nuclear gene for mitochondrial product.
LF210543 - JP 2014500723-A/18046: Polycomb-Associated Non-Coding RNAs.
AK123768 - Homo sapiens cDNA FLJ41774 fis, clone IMR322011689, highly similar to 39S ribosomal protein L40, mitochondrial precursor.
BC009707 - Homo sapiens mitochondrial ribosomal protein L40, mRNA (cDNA clone MGC:9400 IMAGE:3876531), complete cds.
AF034091 - Homo sapiens nuclear localization signal containing protein deleted in Velo-Cardio-Facial syndrome (Nlvcf) mRNA, complete cds.
AJ295637 - Homo sapiens mRNA for URIM protein.
CR456532 - Homo sapiens NLVCF full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.NLVCF).
AB528186 - Synthetic construct DNA, clone: pF1KE0533, Homo sapiens MRPL40 gene for mitochondrial ribosomal protein L40, without stop codon, in Flexi system.
CU013420 - Homo sapiens MRPL40, mRNA (cDNA clone IMAGE:100000389), complete cds, without stop codon, in Gateway system.
CU013132 - Homo sapiens MRPL40, mRNA (cDNA clone IMAGE:100000485), complete cds, with stop codon, in Gateway system.
AK057708 - Homo sapiens cDNA FLJ33146 fis, clone UTERU2000197, moderately similar to Homo sapiens nuclear localization signal containing protein deleted in Velo-Cardio-Facial syndrome (Nlvcf) mRNA.
LF338649 - JP 2014500723-A/146152: Polycomb-Associated Non-Coding RNAs.
JD489181 - Sequence 470205 from Patent EP1572962.
MA446120 - JP 2018138019-A/18046: Polycomb-Associated Non-Coding RNAs.
MA574226 - JP 2018138019-A/146152: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9NQ50 (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: B3KVZ7, ENST00000333130.1, ENST00000333130.2, ENST00000333130.3, NLVCF, NM_003776, O95134, Q9NQ50, RM40_HUMAN, uc317tpm.1, uc317tpm.2, URIM
UCSC ID: ENST00000333130.4_4
RefSeq Accession: NM_003776.4
Protein: Q9NQ50 (aka RM40_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.