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

Gene ID: 9361, updated on 28-Nov-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
109.20211119 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)

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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_001276479.2NP_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 109.20211119

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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