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    LONP1 lon peptidase 1, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 9361, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LONP1provided by HGNC
    Official Full Name
    lon peptidase 1, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:9479
    See related
    Ensembl:ENSG00000196365 MIM:605490; AllianceGenome:HGNC:9479
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LON; LONP; PIM1; hLON; LonHS; CODASS; PRSS15
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 45.5), kidney (RPKM 21.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LONP1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5691834..5720452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5678524..5707125, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5691845..5720463, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9926 Neighboring gene mitochondrial contact site and cristae organizing system subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9927 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:5687727-5688226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690083-5690608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5690609-5691134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5691135-5691660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13814 Neighboring gene ribosomal protein L36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5717772-5718288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5718289-5718804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9931 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5719838-5720354 Neighboring gene cation channel sperm associated auxiliary subunit delta Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5780743-5780921 Neighboring gene proline rich 22

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Inhibition of LONP1 protects against erastin-induced ferroptosis in Pancreatic ductal adenocarcinoma PANC1 cells. Wang H, et al. Biochem Biophys Res Commun, 2020 Feb 19. PMID 31822343
    2. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. Dikoglu E, et al. Am J Med Genet A, 2015 Jul. PMID 25808063
    3. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Nimmo GAM, et al. Hum Mol Genet, 2019 Jan 15. PMID 30304514, Free PMC Article
    4. Mitochondrial Lon regulates apoptosis through the association with Hsp60-mtHsp70 complex. Kao TY, et al. Cell Death Dis, 2015 Feb 12. PMID 25675302, Free PMC Article
    5. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Strauss KA, et al. Am J Hum Genet, 2015 Jan 8. PMID 25574826, Free PMC Article

    See all (193) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis.
      Title: LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis.
    2. Intraneuronal beta-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
      Title: Intraneuronal β-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
    3. Mitochondrial oxidative stress regulates LonP1-TDP-43 pathway and rises mitochondrial damage in carbon tetrachloride-induced liver fibrosis.
      Title: Mitochondrial oxidative stress regulates LonP1-TDP-43 pathway and rises mitochondrial damage in carbon tetrachloride-induced liver fibrosis.
    4. LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.
      Title: LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.
    5. Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
      Title: Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
    6. Inhibition of Lonp1 induces mitochondrial remodeling and autophagy suppression in cervical cancer cells.
      Title: Inhibition of Lonp1 induces mitochondrial remodeling and autophagy suppression in cervical cancer cells.
    7. Differential Expression of Lonp1 Isoforms in Cancer Cells.
      Title: Differential Expression of Lonp1 Isoforms in Cancer Cells.
    8. Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.
      Title: Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.
    9. LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
      Title: LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
    10. Catalytic cycling of human mitochondrial Lon protease.
      Title: Catalytic cycling of human mitochondrial Lon protease.
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    CODAS syndrome
    MedGen: C1838180 OMIM: 600373 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1498

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP-dependent peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP-dependent peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ATP-dependent peptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables PH domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables insulin receptor substrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables mitochondrial promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial genome maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial protein catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oxidation-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    lon protease homolog, mitochondrial
    Names
    hLON ATP-dependent protease
    mitochondrial ATP-dependent protease Lon
    mitochondrial lon protease-like protein
    serine protease 15
    NP_001263408.1
    NP_001263409.1
    NP_004784.2
    XP_011526743.1
    XP_047295675.1
    XP_054178653.1
    XP_054178654.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033142.1 RefSeqGene

      Range
      5307..33619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276479.2 → NP_001263408.1  lon protease homolog, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001263408.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is alternatively spliced at the 5' end compared to variant 1. It uses the same translation start codon as variant 1, however, the encoded isoform (2) lacks a 64 aa protein segment in the 5' coding region compared to isoform 1.
      Source sequence(s)
      AK096626, BC000235
      Consensus CDS
      CCDS62508.1
      UniProtKB/TrEMBL
      B3KXS5
      Related
      ENSP00000468541.1, ENST00000593119.5
      Conserved Domains (5) summary
      smart00464
      Location:59 → 136
      LON; Found in ATP-dependent protease La (LON)
      TIGR00763
      Location:61 → 883
      lon; endopeptidase La
      pfam00004
      Location:455 → 597
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21455
      Location:425 → 476
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl21678
      Location:673 → 884
      ChlI; Subunit ChlI of Mg-chelatase

    2. NM_001276480.1 → NP_001263409.1  lon protease homolog, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses an in-frame downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK056366, BC000235
      Consensus CDS
      CCDS62507.1
      UniProtKB/TrEMBL
      K7EKE6
      Related
      ENSP00000441523.1, ENST00000540670.6
      Conserved Domains (1) summary
      TIGR00763
      Location:6 → 751
      lon; endopeptidase La

    3. NM_004793.4 → NP_004784.2  lon protease homolog, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_004784.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC000235, BI906625
      Consensus CDS
      CCDS12148.1
      UniProtKB/Swiss-Prot
      B3KPH8, D6W635, E5KMH8, F5GZ27, P36776, P36777, Q8N8K8, Q9UQ95
      UniProtKB/TrEMBL
      E5KMI6
      Related
      ENSP00000353826.2, ENST00000360614.8
      Conserved Domains (1) summary
      TIGR00763
      Location:125 → 947
      lon; endopeptidase La

    RNA

    1. NR_076392.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is alternatively spliced at the 5' end compared to variant 1. It is represented as non-coding because the use of the translational start codon as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK096626, AK298531, BC000235
      Related
      ENST00000590558.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      5691834..5720452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439719.1 → XP_047295675.1  lon protease homolog, mitochondrial isoform X1

    2. XM_011528441.4 → XP_011526743.1  lon protease homolog, mitochondrial isoform X1

      Conserved Domains (2) summary
      smart00464
      Location:123 → 200
      LON; Found in ATP-dependent protease La (LON)
      pfam02190
      Location:124 → 368
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      5678524..5707125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322679.1 → XP_054178654.1  lon protease homolog, mitochondrial isoform X1

    2. XM_054322678.1 → XP_054178653.1  lon protease homolog, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36776.2 GenPept UniProtKB/Swiss-Prot:P36776

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