Human Gene LONP1 (ENST00000590729.5) from GENCODE V44
  Description: lon peptidase 1, mitochondrial (from HGNC LONP1)
RefSeq Summary (NM_004793): This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].
Gencode Transcript: ENST00000590729.5
Gencode Gene: ENSG00000196365.12
Transcript (Including UTRs)
   Position: hg38 chr19:5,691,955-5,719,849 Size: 27,895 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg38 chr19:5,692,032-5,719,790 Size: 27,759 Coding Exon Count: 18 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:5,691,955-5,719,849)mRNA (may differ from genome)Protein (829 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  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: LONP1
Diseases sorted by gene-association score: codas syndrome* (1689), cavitary optic disc anomalies* (283), cowchock syndrome (14), bone ewing's sarcoma (8), glossopharyngeal neuralgia (7), hereditary spastic paraplegia (7), glossopharyngeal nerve disease (6)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 110.05 RPKM in Adrenal Gland
Total median expression: 1039.41 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 -28.8059-0.488 Picture PostScript Text
3' UTR -30.2077-0.392 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.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  BC004934 - Homo sapiens cDNA clone IMAGE:3606377, **** WARNING: chimeric clone ****.
AL096720 - Homo sapiens mRNA; cDNA DKFZp586C0722 (from clone DKFZp586C0722).
BC000235 - Homo sapiens lon peptidase 1, mitochondrial, mRNA (cDNA clone MGC:1498 IMAGE:3350958), complete cds.
U02389 - Human hLON ATP-dependent protease mRNA, nuclear gene encoding mitochondrial protein, complete cds.
X74215 - H.sapiens mRNA for Lon protease-like protein.
X76040 - H.sapiens mRNA for Lon protease-like protein.
AK096433 - Homo sapiens cDNA FLJ39114 fis, clone NTONG2006099, highly similar to Lon protease homolog, mitochondrial precursor (EC 3.4.21.-).
AK127867 - Homo sapiens cDNA FLJ45970 fis, clone PLACE7016526, highly similar to Lon protease homolog, mitochondrial precursor (EC 3.4.21.-).
AK298531 - Homo sapiens cDNA FLJ56219 complete cds, highly similar to Lon protease homolog, mitochondrial precursor (EC 3.4.21.-).
AK309720 - Homo sapiens cDNA, FLJ99761.
AK096626 - Homo sapiens cDNA FLJ39307 fis, clone OCBBF2013208, highly similar to MITOCHONDRIAL LON PROTEASE PRECURSOR (EC 3.4.21.-).
AK056366 - Homo sapiens cDNA FLJ31804 fis, clone NT2RI2009103, highly similar to Lon protease homolog, mitochondrial precursor (EC 3.4.21.-).
BC109218 - Homo sapiens lon peptidase 1, mitochondrial, mRNA (cDNA clone IMAGE:40008118), partial cds.
BC109219 - Homo sapiens cDNA clone IMAGE:40008125, containing frame-shift errors.
JD425640 - Sequence 406664 from Patent EP1572962.
DQ892955 - Synthetic construct clone IMAGE:100005585; FLH191140.01X; RZPDo839H1176D protease, serine, 15 (PRSS15) gene, encodes complete protein.
DQ896202 - Synthetic construct Homo sapiens clone IMAGE:100010662; FLH191136.01L; RZPDo839H1166D protease, serine, 15 (PRSS15) gene, encodes complete protein.
BC139726 - Homo sapiens lon peptidase 1, mitochondrial, mRNA (cDNA clone IMAGE:40017643), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000590729.1, ENST00000590729.2, ENST00000590729.3, ENST00000590729.4, K7EJE8, uc031riz.1, uc031riz.2, X76040
UCSC ID: ENST00000590729.5
RefSeq Accession: NM_004793

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.