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

    Gene ID: 9361, updated on 4-Jul-2021

    Summary

    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
    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

    See LONP1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (5691834..5720452, complement)
    105.20201022 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 mitochondrial contact site and cristae organizing system subunit 13 Neighboring gene hydroxysteroid 11-beta dehydrogenase 1 like Neighboring gene ribosomal protein L36 Neighboring gene cation channel sperm associated auxiliary subunit delta Neighboring gene proline rich 22 Neighboring gene dihydrouridine synthase 3 like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP-dependent peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables mitochondrial promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    enables single-stranded RNA binding IDA
    Inferred from Direct Assay
    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
    PubMed 
    located_in mitochondrial matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_001276479.2NP_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/Swiss-Prot
      P36776
      Related
      ENSP00000468541.1, ENST00000593119.5
      Conserved Domains (5) summary
      smart00464
      Location:59136
      LON; Found in ATP-dependent protease La (LON)
      TIGR00763
      Location:61883
      lon; endopeptidase La
      pfam00004
      Location:455597
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21455
      Location:425476
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl21678
      Location:673884
      ChlI; Subunit ChlI of Mg-chelatase
    2. NM_001276480.1NP_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/Swiss-Prot
      P36776
      Related
      ENSP00000441523.1, ENST00000540670.6
      Conserved Domains (6) summary
      smart00464
      Location:130169
      LON; Found in ATP-dependent protease La (LON)
      smart00382
      Location:319456
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:323465
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam02190
      Location:75172
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      cl21455
      Location:293344
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl21678
      Location:541752
      ChlI; Subunit ChlI of Mg-chelatase
    3. NM_004793.4NP_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
      P36776
      Related
      ENSP00000353826.2, ENST00000360614.8
      Conserved Domains (5) summary
      smart00464
      Location:123200
      LON; Found in ATP-dependent protease La (LON)
      TIGR00763
      Location:125947
      lon; endopeptidase La
      pfam00004
      Location:519661
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21455
      Location:489540
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl21678
      Location:737948
      ChlI; Subunit ChlI of Mg-chelatase

    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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011528441.3XP_011526743.1  lon protease homolog, mitochondrial isoform X1

      Conserved Domains (2) summary
      smart00464
      Location:123200
      LON; Found in ATP-dependent protease La (LON)
      pfam02190
      Location:124368
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
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