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Aliases for LONP1 Gene

Aliases for LONP1 Gene

  • Lon Peptidase 1, Mitochondrial 2 3
  • Mitochondrial ATP-Dependent Protease Lon 3 4
  • Lon Protease-Like Protein 3 4
  • Serine Protease 15 3 4
  • PRSS15 3 4
  • LonHS 3 4
  • LONP 3 4
  • Mitochondrial Lon Protease-Like Protein 3
  • HLON ATP-Dependent Protease 3
  • Protease, Serine, 15 2
  • EC 3.4.21.53 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • CODASS 3
  • PIM1 3
  • HLON 3
  • LON 3

External Ids for LONP1 Gene

Previous HGNC Symbols for LONP1 Gene

  • PRSS15

Previous GeneCards Identifiers for LONP1 Gene

  • GC19M005643
  • GC19M005452

Summaries for LONP1 Gene

Entrez Gene Summary for LONP1 Gene

  • 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]

GeneCards Summary for LONP1 Gene

LONP1 (Lon Peptidase 1, Mitochondrial) is a Protein Coding gene. Diseases associated with LONP1 include codas syndrome and glossopharyngeal neuralgia. Among its related pathways are MicroRNAs in cancer and NF-kappaB Signaling. GO annotations related to this gene include sequence-specific DNA binding and serine-type endopeptidase activity. An important paralog of this gene is LONP2.

UniProtKB/Swiss-Prot for LONP1 Gene

  • ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters. Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein.

Gene Wiki entry for LONP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LONP1 Gene

Genomics for LONP1 Gene

Regulatory Elements for LONP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LONP1 Gene

Chromosome:
19
Start:
5,691,834 bp from pter
End:
5,720,572 bp from pter
Size:
28,739 bases
Orientation:
Minus strand

Genomic View for LONP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LONP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LONP1 Gene

Proteins for LONP1 Gene

  • Protein details for LONP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36776-LONM_HUMAN
    Recommended name:
    Lon protease homolog, mitochondrial
    Protein Accession:
    P36776
    Secondary Accessions:
    • B3KPH8
    • D6W635
    • E5KMH8
    • F5GZ27
    • P36777
    • Q8N8K8
    • Q9UQ95

    Protein attributes for LONP1 Gene

    Size:
    959 amino acids
    Molecular mass:
    106489 Da
    Quaternary structure:
    • Homohexamer or homoheptamer. Organized in a ring with a central cavity. DNA and RNA binding is stimulated by substrate and inhibited by ATP binding. Interacts with PEO1 and mitochondrial DNA polymerase subunit POLG.
    SequenceCaution:
    • Sequence=CAA52291.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LONP1 Gene

    Alternative splice isoforms for LONP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LONP1 Gene

Proteomics data for LONP1 Gene at MOPED

Post-translational modifications for LONP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for LONP1 Gene

Graphical View of Domain Structure for InterPro Entry

P36776

UniProtKB/Swiss-Prot:

LONM_HUMAN :
  • Contains 1 Lon domain.
  • Belongs to the peptidase S16 family.
Domain:
  • Contains 1 Lon domain.
Family:
  • Belongs to the peptidase S16 family.
genes like me logo Genes that share domains with LONP1: view

Function for LONP1 Gene

Molecular function for LONP1 Gene

UniProtKB/Swiss-Prot Function:
ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters. Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein.

Enzyme Numbers (IUBMB) for LONP1 Gene

Gene Ontology (GO) - Molecular Function for LONP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 single-stranded DNA binding IBA --
GO:0003727 single-stranded RNA binding IDA 14739292
GO:0004176 ATP-dependent peptidase activity IDA 8248235
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 14739292
genes like me logo Genes that share ontologies with LONP1: view
genes like me logo Genes that share phenotypes with LONP1: view

Animal Model Products

miRNA for LONP1 Gene

miRTarBase miRNAs that target LONP1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LONP1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LONP1 Gene

Localization for LONP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LONP1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LONP1 Gene COMPARTMENTS Subcellular localization image for LONP1 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for LONP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA 8248235
GO:0005759 mitochondrial matrix IMP 12198491
GO:0016020 membrane IDA 19946888
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with LONP1: view

Pathways & Interactions for LONP1 Gene

genes like me logo Genes that share pathways with LONP1: view

Gene Ontology (GO) - Biological Process for LONP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance NAS 17420247
GO:0001666 response to hypoxia IEP 17418790
GO:0006508 proteolysis --
GO:0006515 misfolded or incompletely synthesized protein catabolic process IBA --
GO:0007005 mitochondrion organization IMP 15683722
genes like me logo Genes that share ontologies with LONP1: view

No data available for SIGNOR curated interactions for LONP1 Gene

Drugs & Compounds for LONP1 Gene

(2) Drugs for LONP1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Pharma Activator 0
serine Nutra 420

(1) Additional Compounds for LONP1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with LONP1: view

Transcripts for LONP1 Gene

Unigene Clusters for LONP1 Gene

Lon peptidase 1, mitochondrial:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LONP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LONP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: -
SP6:
SP7: - - - - - -
SP8:
SP9: -
SP10: - - - - - - -
SP11:
SP12:

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b · 21c · 21d
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for LONP1 Gene

GeneLoc Exon Structure for
LONP1
ECgene alternative splicing isoforms for
LONP1

Expression for LONP1 Gene

mRNA expression in normal human tissues for LONP1 Gene

mRNA differential expression in normal tissues according to GTEx for LONP1 Gene

This gene is overexpressed in Adrenal Gland (x5.7).

Protein differential expression in normal tissues from HIPED for LONP1 Gene

This gene is overexpressed in Adrenal (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LONP1 Gene



SOURCE GeneReport for Unigene cluster for LONP1 Gene Hs.350265

mRNA Expression by UniProt/SwissProt for LONP1 Gene

P36776-LONM_HUMAN
Tissue specificity: Duodenum, heart, lung and liver, but not thymus
genes like me logo Genes that share expression patterns with LONP1: view

Protein tissue co-expression partners for LONP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for LONP1 Gene

Orthologs for LONP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LONP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LONP1 35
  • 88.56 (n)
  • 92.39 (a)
LONP1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LONP1 35
  • 87.29 (n)
  • 92.61 (a)
LONP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lonp1 35
  • 82.49 (n)
  • 87.92 (a)
Lonp1 16
Lonp1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LONP1 35
  • 99.03 (n)
  • 99.58 (a)
LONP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lonp1 35
  • 82.17 (n)
  • 89.09 (a)
oppossum
(Monodelphis domestica)
Mammalia LONP1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LONP1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves LONP1 35
  • 78.08 (n)
  • 88.47 (a)
LONP1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492505 35
  • 69.61 (n)
  • 78.94 (a)
Str.16414 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24077 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
lonp1 35
  • 72.24 (n)
  • 78.17 (a)
lonp1 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13510 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010451 35
  • 64.71 (n)
  • 70.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Lon 35
  • 63.79 (n)
  • 67.71 (a)
Lon 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34B2.6 35
  • 54.78 (n)
  • 56.71 (a)
C34B2.6 36
  • 49 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10407g 35
  • 51.03 (n)
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIM1 35
  • 50.82 (n)
  • 49.58 (a)
PIM1 36
  • 36 (a)
OneToMany
PIM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons LON1 35
  • 56.92 (n)
  • 57.44 (a)
rice
(Oryza sativa)
Liliopsida Os07g0689300 35
  • 55.26 (n)
  • 56.6 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10141 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14137 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05261 35
  • 57.4 (n)
  • 52.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lon1 35
  • 51.38 (n)
  • 50.97 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToOne
Species with no ortholog for LONP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for LONP1 Gene

ENSEMBL:
Gene Tree for LONP1 (if available)
TreeFam:
Gene Tree for LONP1 (if available)

Paralogs for LONP1 Gene

Paralogs for LONP1 Gene

genes like me logo Genes that share paralogs with LONP1: view

Variants for LONP1 Gene

Sequence variations from dbSNP and Humsavar for LONP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs945704 -- 5,704,342(-) CTCCC(A/G)TGGCT intron-variant
rs945828 -- 5,707,193(-) TACAC(A/G)CACAG intron-variant
rs1006274 -- 5,704,757(-) ACTGG(A/C)CTTGC intron-variant
rs1006275 -- 5,704,551(-) TCCCC(A/G)GGGCA intron-variant
rs1062367 -- 5,696,090(-) GTGTC(A/G/T)GGCTA synonymous-codon, reference, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for LONP1 Gene

Variant ID Type Subtype PubMed ID
dgv3693n71 CNV Loss 21882294
nsv910894 CNV Loss 21882294
dgv3694n71 CNV Loss 21882294
dgv3695n71 CNV Loss 21882294
nsv516021 CNV Loss 19592680
nsv470119 CNV Loss 18288195
nsv521656 CNV Loss 19592680

Variation tolerance for LONP1 Gene

Residual Variation Intolerance Score: 53.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.03; 68.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LONP1 Gene

HapMap Linkage Disequilibrium report
LONP1
Human Gene Mutation Database (HGMD)
LONP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LONP1 Gene

Disorders for LONP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LONP1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
codas syndrome
  • cerebral, ocular, dental, auricular, and skeletal syndrome
glossopharyngeal neuralgia
  • glossovasopharyngeal neuralgia
glossopharyngeal nerve disease
  • glossopharyngeal nerve diseases
alzheimer disease mitochondrial
  • ad-mt
merrf syndrome
  • myoclonus epilepsy and ragged red fibers
- elite association
Search LONP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LONM_HUMAN
  • CODAS syndrome (CODASS) [MIM:600373]: A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts. {ECO:0000269 PubMed:25574826, ECO:0000269 PubMed:25808063}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LONP1

Genetic Association Database (GAD)
LONP1
Human Genome Epidemiology (HuGE) Navigator
LONP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LONP1
genes like me logo Genes that share disorders with LONP1: view

No data available for Genatlas for LONP1 Gene

Publications for LONP1 Gene

  1. Cloning and sequence analysis of cDNA for a human homolog of eubacterial ATP-dependent Lon proteases. (PMID: 8119403) Amerik A.Y. … Gorbalenya A.E. (FEBS Lett. 1994) 2 23 67
  2. A human mitochondrial ATP-dependent protease that is highly homologous to bacterial Lon protease. (PMID: 8248235) Wang N. … Maurizi M.R. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 23 67
  3. Structure of the catalytic domain of the human mitochondrial Lon protease: proposed relation of oligomer formation and activity. (PMID: 20222013) Garcia-Nafria J. … Wilson K.S. (Protein Sci. 2010) 23 67
  4. Marker-free plasmids for gene therapeutic applications--lack of antibiotic resistance gene substantially improves the manufacturing process. (PMID: 20138928) Mairhofer J. … Grabherr R. (J. Biotechnol. 2010) 23 67
  5. The IbpA and IbpB small heat-shock proteins are substrates of the AAA+ Lon protease. (PMID: 20158612) Bissonnette S.A. … Baker T.A. (Mol. Microbiol. 2010) 23 67

Products for LONP1 Gene

Sources for LONP1 Gene

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