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 mitoc... See more...

Aliases for LONP1 Gene

Aliases for LONP1 Gene

  • Lon Peptidase 1, Mitochondrial 2 3 5
  • Mitochondrial ATP-Dependent Protease Lon 3 4
  • Lon Protease Homolog, Mitochondrial 3 4
  • Lon Protease-Like Protein 3 4
  • Serine Protease 15 3 4
  • EC 3.4.21.53 4 52
  • PRSS15 3 4
  • LONP 3 4
  • Mitochondrial Lon Protease-Like Protein 3
  • HLON ATP-Dependent Protease 3
  • Protease, Serine, 15 2
  • EC 3.4.21 52
  • CODASS 3
  • LonHS 3
  • LONHs 4
  • 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 Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Glucose / Energy Metabolism. Gene Ontology (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 Summary 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 (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575).

Gene Wiki entry for LONP1 Gene

Additional gene information for LONP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LONP1 Gene

Genomics for LONP1 Gene

GeneHancer (GH) Regulatory Elements for LONP1 Gene

Promoters and enhancers for LONP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LONP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LONP1

Top Transcription factor binding sites by QIAGEN in the LONP1 gene promoter:
  • c-Myb
  • ER-alpha
  • GATA-2
  • HEN1
  • Ik-2
  • Max1
  • NF-1
  • NF-1/L
  • POU2F1
  • POU2F1a

Genomic Locations for LONP1 Gene

Genomic Locations for LONP1 Gene
chr19:5,691,834-5,720,572
(GRCh38/hg38)
Size:
28,739 bases
Orientation:
Minus strand
chr19:5,691,845-5,720,583
(GRCh37/hg19)
Size:
28,739 bases
Orientation:
Minus strand

Genomic View for LONP1 Gene

Genes around LONP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LONP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:14739292, PubMed:25369343, PubMed:20222013). Organized in a ring with a central cavity (PubMed:25369343, PubMed:20222013). The ATP-binding and proteolytic domains (AP-domain) form a hexameric chamber, while the N-terminal domain is arranged as a trimer of dimers (PubMed:27632940). DNA and RNA binding is stimulated by substrate and inhibited by ATP binding. Interacts with TWNK and mitochondrial DNA polymerase subunit POLG (PubMed:14739292).
    SequenceCaution:
    • Sequence=CAA52291.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Selected DME Specific Peptides for LONP1 Gene

P36776:
  • RVVDNPIYLSDMGAALTGAESHELQ
  • SSEFNVTRNYLDWLT
  • LVTSHIHLHVPEGATPKDGPSAGCTIVTALLSLA
  • EVLMVEVENV
  • MGLAWTAMGGS
  • TPPGVVMGL
  • LDEIYHTGTF
  • PLRDRME
  • EGLEVHFV
  • DLSKVLF
  • LPVGGIK
  • AEIKGHRRTY
  • FRFSVGG
  • KDGPSAG
  • GHRRTYVGA
  • GVVMGLAWT
  • IDEVDKIG
  • VTPENLQDFVGKPVFTVERMY
  • RNYLDWLT
  • GPPGVGKTS
  • LDVPVDLS

Post-translational modifications for LONP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for LONP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LONP1

Domains & Families for LONP1 Gene

Gene Families for LONP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LONP1 Gene

GenScript: Design optimal peptide antigens:
  • LONP1 protein (A4VCH6_HUMAN)
  • Lon protease homolog (B3KXS5_HUMAN)
  • Lon protease homolog (F5GZ27_HUMAN)
  • Serine protease 15 (LONM_HUMAN)
  • Lon protease homolog (Q2VPA0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36776

UniProtKB/Swiss-Prot:

LONM_HUMAN :
  • The Lon N-terminal domains are crucial for the overall structure of the protein, maintaining it in a conformation allowing its proper functioning.
  • Belongs to the peptidase S16 family.
Domain:
  • The Lon N-terminal domains are crucial for the overall structure of the protein, maintaining it in a conformation allowing its proper functioning.
  • The AP-domain (ATP-binding and proteolytic domains) has a closed-ring conformation in the presence of AMP-PNP and its N-terminal entry gate appears closed. Upon ADP binding, it switches to a lock-washer conformation and its N-terminal gate opens.
  • The proteolytic site is connected to the ATP binding site through the GG loop (Gly-893 and Gly-894) and the loop containing Trp-770. Binding of a protein substrate such as beta-casein appears to trigger movement of both these loops as part of the conformational changes which lead to enhanced ATPase and peptidase activities.
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 (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of proteins in presence of ATP.; EC=3.4.21.53; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Peptidase activity is subject to substrate inhibition by ATP.

Enzyme Numbers (IUBMB) for LONP1 Gene

Phenotypes From GWAS Catalog for LONP1 Gene

Gene Ontology (GO) - Molecular Function for LONP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001018 NOT mitochondrial promoter sequence-specific DNA binding IDA 9485316
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IBA 21873635
GO:0003727 single-stranded RNA binding IDA 14739292
genes like me logo Genes that share ontologies with LONP1: view
genes like me logo Genes that share phenotypes with LONP1: view

Human Phenotype Ontology for LONP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LONP1 Gene

MGI Knock Outs for LONP1:
  • Lonp1 Lonp1<tm1Otin>
  • Lonp1 Lonp1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for LONP1

CRISPR Products

miRNA for LONP1 Gene

miRTarBase miRNAs that target LONP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LONP1

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LONP1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
peroxisome 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LONP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 8248235
GO:0005759 mitochondrial matrix IEA,IMP 12198491
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with LONP1: view

Pathways & Interactions for LONP1 Gene

PathCards logo

SuperPathways for LONP1 Gene

SuperPathway Contained pathways
1 Glucose / Energy Metabolism
genes like me logo Genes that share pathways with LONP1: view

Pathways by source for LONP1 Gene

1 Cell Signaling Technology pathway for LONP1 Gene

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 IEA --
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IBA,IEA 21873635
GO:0007005 mitochondrion organization IBA,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

(3) Drugs for LONP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with LONP1: view

Transcripts for LONP1 Gene

mRNA/cDNA for LONP1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LONP1

Clone 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

Expression for LONP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for LONP1 Gene



Protein tissue co-expression partners for LONP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LONP1

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.

Evidence on tissue expression from TISSUES for LONP1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Eye(4.4)
  • Skin(4.1)
  • Lung(3.4)
  • Blood(2.8)
  • Intestine(2.7)
  • Lymph node(2.7)
  • Heart(2.5)
  • Adrenal gland(2.4)
  • Bone marrow(2.4)
  • Spleen(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LONP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LONP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia LONP1 31 30
  • 99.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LONP1 31 30
  • 88.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LONP1 31 30
  • 87.29 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LONP1 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LONP1 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lonp1 17 31 30
  • 82.49 (n)
rat
(Rattus norvegicus)
Mammalia Lonp1 30
  • 82.17 (n)
chicken
(Gallus gallus)
Aves LONP1 31 30
  • 78.08 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492505 30
  • 69.61 (n)
Str.16414 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24077 30
zebrafish
(Danio rerio)
Actinopterygii lonp1 31 30
  • 72.24 (n)
OneToOne
-- 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13510 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010451 30
  • 64.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lon 31 30
  • 63.79 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34B2.6 31 30
  • 54.78 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10407g 30
  • 51.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIM1 33 31 30
  • 50.82 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons LON1 30
  • 56.92 (n)
rice
(Oryza sativa)
Liliopsida Os07g0689300 30
  • 55.26 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.10141 30
bread mold
(Neurospora crassa)
Ascomycetes NCU05261 30
  • 57.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToOne
Cin.14137 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lon1 30
  • 51.38 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14137 30
Species where no ortholog for LONP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LONP1: view image

Paralogs for LONP1 Gene

Paralogs for LONP1 Gene

(2) SIMAP similar genes for LONP1 Gene using alignment to 17 proteins:

  • LONM_HUMAN
  • A4VCH6_HUMAN
  • B3KPH8_HUMAN
  • B3KU28_HUMAN
  • B3KXS5_HUMAN
  • B4DPX0_HUMAN
  • E5KMI6_HUMAN
  • F5GZ27_HUMAN
  • K7EJE8_HUMAN
  • K7EKE6_HUMAN
  • K7EQF8_HUMAN
  • K7ER27_HUMAN
  • K7ER56_HUMAN
  • K7ERR6_HUMAN
  • K7ERS1_HUMAN
  • Q2VPA0_HUMAN
  • Q8N8K8_HUMAN
genes like me logo Genes that share paralogs with LONP1: view

Variants for LONP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LONP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
636236 Uncertain Significance: LONP1-related condition 5,696,749(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
676146 Benign: not provided 5,711,919(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
676236 Benign: not provided 5,696,135(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
676747 Benign/Likely Benign: not provided 5,720,063(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
679497 Benign/Likely Benign: not provided 5,693,698(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for LONP1 Gene

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

Variant ID Type Subtype PubMed ID
nsv1062851 CNV gain 25217958
nsv470119 CNV loss 18288195
nsv516021 CNV loss 19592680
nsv521656 CNV loss 19592680
nsv953952 CNV deletion 24416366

Variation tolerance for LONP1 Gene

Residual Variation Intolerance Score: 53.2% 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)

Additional Variant Information for LONP1 Gene

Human Gene Mutation Database (HGMD)
LONP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LONP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for LONP1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for LONP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
codas syndrome
  • cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
pyruvate dehydrogenase e1-alpha deficiency
  • pdhad
japanese spotted fever
  • oriental spotted fever
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
epidural neoplasm
  • extradural tumor
- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for LONP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AYu … Gorbalenya AE (FEBS letters 1994) 2 3 4 23 54
  2. A human mitochondrial ATP-dependent protease that is highly homologous to bacterial Lon protease. (PMID: 8248235) Wang N … Maurizi MR (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 23 54
  3. Roles for the human ATP-dependent Lon protease in mitochondrial DNA maintenance. (PMID: 17420247) Lu B … Suzuki CK (The Journal of biological chemistry 2007) 3 4 23 54
  4. DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate. (PMID: 14739292) Liu T … Suzuki CK (The Journal of biological chemistry 2004) 3 4 23 54
  5. Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism. (PMID: 12198491) Bota DA … Davies KJ (Nature cell biology 2002) 3 4 23 54

Products for LONP1 Gene

Sources for LONP1 Gene