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

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; 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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis.
Title: LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis.
Intraneuronal beta-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
Title: Intraneuronal β-amyloid impaired mitochondrial proteostasis through the impact on LONP1.
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.
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.
Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
Title: Sirt3 restricts tumor initiation via promoting LONP1 deacetylation and K63 ubiquitination.
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.
Differential Expression of Lonp1 Isoforms in Cancer Cells.
Title: Differential Expression of Lonp1 Isoforms in Cancer Cells.
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.
LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
Title: LONP1 downregulation with ageing contributes to osteoarthritis via mitochondrial dysfunction.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

LONP1 (e-PCR)
- UniSTS:504103

PRSS15_7943 (e-PCR)
- UniSTS:467849

SHGC-107998 (e-PCR)
- UniSTS:183189

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 aluminum ion	IEA Inferred from Electronic Annotation more info
involved_in response to hormone	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 more info	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 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

EC 3.4.21.53

NP_001263409.1

EC 3.4.21.53

NP_004784.2

EC 3.4.21.53

XP_011526743.1

EC 3.4.21.53

XP_047295675.1

EC 3.4.21.53

XP_054178653.1

EC 3.4.21.53

XP_054178654.1

EC 3.4.21.53

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

NG_033142.1 RefSeqGene

Range

5307..33619

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

5691834..5720452 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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