Human Gene LONP1 (ENST00000593119.5) from GENCODE V44
  Description: Homo sapiens lon peptidase 1, mitochondrial (LONP1), transcript variant 2, mRNA. (from RefSeq NM_001276479)
RefSeq Summary (NM_001276479): 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: ENST00000593119.5
Gencode Gene: ENSG00000196365.12
Transcript (Including UTRs)
   Position: hg38 chr19:5,691,835-5,720,165 Size: 28,331 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr19:5,692,032-5,720,132 Size: 28,101 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:5,691,835-5,720,165)mRNA (may differ from genome)Protein (895 aa)
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-  Comments and Description Text from UniProtKB
  ID: LONM_HUMAN
DESCRIPTION: RecName: Full=Lon protease homolog, mitochondrial; EC=3.4.21.-; AltName: Full=LONHs; AltName: Full=Lon protease-like protein; Short=LONP; AltName: Full=Mitochondrial ATP-dependent protease Lon; AltName: Full=Serine protease 15; Flags: Precursor;
FUNCTION: ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single- stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site- specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters. Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein.
SUBUNIT: Homohexamer or homoheptamer. Organized in a ring with a central cavity. DNA and RNA binding is stimulated by substrate and inhibited by ATP binding. Interacts with PEO1 and mitochondrial DNA polymerase subunit POLG.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Duodenum, heart, lung and liver, but not thymus.
SIMILARITY: Belongs to the peptidase S16 family.
SIMILARITY: Contains 1 Lon domain.
SEQUENCE CAUTION: Sequence=CAA52291.1; Type=Erroneous initiation;

-  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 -8.8033-0.267 Picture PostScript Text
3' UTR -81.00197-0.411 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
IPR003593 - AAA+_ATPase
IPR003959 - ATPase_AAA_core
IPR008269 - Pept_S16_C
IPR004815 - Pept_S16_lon
IPR003111 - Pept_S16_N
IPR008268 - Peptidase_S16_AS
IPR015947 - PUA-like_domain
IPR020568 - Ribosomal_S5_D2-typ_fold

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF02190 - ATP-dependent protease La (LON) substrate-binding domain
PF05362 - Lon protease (S16) C-terminal proteolytic domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2X36 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P36776
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-  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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001018 mitochondrial RNA polymerase regulatory region DNA binding
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0003727 single-stranded RNA binding
GO:0004176 ATP-dependent peptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0043531 ADP binding
GO:0043565 sequence-specific DNA binding
GO:0051880 G-quadruplex DNA binding
GO:0070182 DNA polymerase binding

Biological Process:
GO:0000002 mitochondrial genome maintenance
GO:0001666 response to hypoxia
GO:0006508 proteolysis
GO:0006515 misfolded or incompletely synthesized protein catabolic process
GO:0007005 mitochondrion organization
GO:0007568 aging
GO:0009725 response to hormone
GO:0010044 response to aluminum ion
GO:0030163 protein catabolic process
GO:0032042 mitochondrial DNA metabolic process
GO:0034599 cellular response to oxidative stress
GO:0034622 cellular macromolecular complex assembly
GO:0051260 protein homooligomerization
GO:0051603 proteolysis involved in cellular protein catabolic process
GO:0070407 oxidation-dependent protein catabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0016020 membrane
GO:0042645 mitochondrial nucleoid


-  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: D6W635, E5KMH8, ENST00000593119.1, ENST00000593119.2, ENST00000593119.3, ENST00000593119.4, LONM_HUMAN, NM_001276479, P36776, P36777, PRSS15, Q9UQ95, uc002mcy.1, uc002mcy.2, uc002mcy.3, uc002mcy.4
UCSC ID: ENST00000593119.5
RefSeq Accession: NM_001276479
Protein: P36776 (aka LONM_HUMAN)
CCDS: CCDS62508.1

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