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

Gene ID: 9361, updated on 11-Apr-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
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Genomic context

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Location:
19p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5691834..5720452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5678524..5707125, complement)
105.20220307 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
  • 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 induces mitochondrial remodeling and autophagy suppression in cervical cancer cells. Wang X, et al. Acta Histochem, 2023 Jan. PMID 36508908
  2. Differential Expression of Lonp1 Isoforms in Cancer Cells. Zanini G, et al. Cells, 2022 Dec 6. PMID 36497197, Free PMC Article
  3. Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight. Ma H, et al. Int J Mol Sci, 2022 Nov 2. PMID 36362158, Free PMC Article
  4. Catalytic cycling of human mitochondrial Lon protease. Mohammed I, et al. Structure, 2022 Sep 1. PMID 35870450
  5. Proteomic analysis demonstrates the role of the quality control protease LONP1 in mitochondrial protein aggregation. Pollecker K, et al. J Biol Chem, 2021 Oct. PMID 34461102, Free PMC Article

See all (178) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intraneuronal beta-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
    Title: Intraneuronal β-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
  2. 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.
  3. 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.
  4. Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
    Title: Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
  5. 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.
  6. Differential Expression of Lonp1 Isoforms in Cancer Cells.
    Title: Differential Expression of Lonp1 Isoforms in Cancer Cells.
  7. 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.
  8. LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
    Title: LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
  9. Catalytic cycling of human mitochondrial Lon protease.
    Title: Catalytic cycling of human mitochondrial Lon protease.
  10. NEK5 interacts with LonP1 and its kinase activity is essential for the regulation of mitochondrial functions and mtDNA maintenance.
    Title: NEK5 interacts with LonP1 and its kinase activity is essential for the regulation of mitochondrial functions and mtDNA maintenance.
Submit: New GeneRIF Correction See all GeneRIFs (69)

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 regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
  
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 
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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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_2023_10

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

Gene LinkOut

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