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

Gene ID: 9361, updated on 26-May-2016
Official Symbol
LONP1provided by HGNC
Official Full Name
lon peptidase 1, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:9479
See related
Ensembl:ENSG00000196365 HPRD:05689; MIM:605490; Vega:OTTHUMG00000180504
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]
Orthologs
Location:
19p13.2
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (5691834..5720452, complement)
105 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 chromosome 19 open reading frame 70 Neighboring gene hydroxysteroid (11-beta) dehydrogenase 1-like Neighboring gene uncharacterized LOC105372254 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1498

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
G-quadruplex DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial heavy strand promoter anti-sense binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT mitochondrial heavy strand promoter sense binding IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial light strand promoter anti-sense binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT mitochondrial light strand promoter sense binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
single-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IC
Inferred by Curator
more info
PubMed 
cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
chaperone-mediated protein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
misfolded or incompletely synthesized protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrial DNA metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial genome maintenance NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis involved in cellular protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial DNA replication IEA
Inferred from Electronic Annotation
more info
 
response to aluminum ion IEA
Inferred from Electronic Annotation
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
lon protease homolog, mitochondrial
Names
LONP
LONP1
hLON ATP-dependent protease
lon protease-like protein
mitochondrial ATP-dependent protease Lon
mitochondrial lon protease-like protein
serine protease 15
NP_001263408.1
NP_001263409.1
NP_004784.2

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
    5195..33619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276479.1NP_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, OTTHUMP00000264517, ENST00000593119, OTTHUMT00000451666
    Conserved Domains (4) summary
    cd00009
    Location:428592
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00464
    Location:59136
    LON; Found in ATP-dependent protease La (LON)
    cl21678
    Location:673884
    ChlI; Subunit ChlI of Mg-chelatase
    TIGR00763
    Location:61883
    lon; endopeptidase La
  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, OTTHUMP00000264518, ENST00000540670, OTTHUMT00000451667
    Conserved Domains (5) summary
    cd00009
    Location:296460
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00464
    Location:130169
    LON; Found in ATP-dependent protease La (LON)
    smart00382
    Location:319456
    AAA; ATPases associated with a variety of cellular activities
    pfam02190
    Location:75172
    LON; ATP-dependent protease La (LON) domain
    cl21678
    Location:541752
    ChlI; Subunit ChlI of Mg-chelatase
  3. NM_004793.3NP_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, OTTHUMP00000264513, ENST00000360614, OTTHUMT00000451662
    Conserved Domains (4) summary
    cd00009
    Location:492656
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00464
    Location:123200
    LON; Found in ATP-dependent protease La (LON)
    cl21678
    Location:737948
    ChlI; Subunit ChlI of Mg-chelatase
    TIGR00763
    Location:125947
    lon; endopeptidase La

RNA

  1. NR_076392.1 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, OTTHUMT00000452519

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011528441.1XP_011526743.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    5691454..5720076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)