LONP1 (lon peptidase 1, mitochondrial)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9361
Gene name Lon peptidase 1, mitochondrial
Gene symbol LONP1
Synonyms (NCBI Gene)
CODASSLONLONPLonHSPIM1PRSS15hLON
Chromosome 19
Chromosome location 19p13.3
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 a
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs730880293 T>C Pathogenic Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs745742429 C>A,T Likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs879255247 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs879255248 G>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs879255249 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT029135 hsa-miR-26b-5p Microarray 19088304
MIRT051178 hsa-miR-16-5p CLASH 23622248
MIRT038977 hsa-miR-20a-3p CLASH 23622248
MIRT1114563 hsa-miR-3654 CLIP-seq
MIRT1114564 hsa-miR-558 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (63)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001018 Function Mitochondrial promoter sequence-specific DNA binding IDA 9485316
GO:0001666 Process Response to hypoxia IEA
GO:0001666 Process Response to hypoxia IEP 17418790
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605490 9479 ENSG00000196365
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36776
Protein name Lon protease homolog, mitochondrial (EC 3.4.21.53) (LONHs) (Lon protease-like protein) (LONP) (Mitochondrial ATP-dependent protease Lon) (Serine protease 15)
Protein 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 (PubMed:12198491, PubMed:15870080,
PDB 2X36 , 6WYS , 6WZV , 6X1M , 6X27 , 7KRZ , 7KSL , 7KSM , 7NFY , 7NG4 , 7NG5 , 7NGC , 7NGF , 7NGL , 7NGP , 7NGQ , 7OXO , 7P09 , 7P0B , 7P0M , 8OJL , 8OKA , 8OM7 , 8OVF , 8OVG , 9CC0 , 9CC3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02190 LON_substr_bdg 123 → 368 ATP-dependent protease La (LON) substrate-binding domain Family
PF00004 AAA 519 → 661 ATPase family associated with various cellular activities (AAA) Domain
PF05362 Lon_C 736 → 949 Lon protease (S16) C-terminal proteolytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Duodenum, heart, lung and liver, but not thymus. {ECO:0000269|PubMed:8248235}.
Sequence 
MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGQRTCDASPPWALWGRGPA
IGGQWRGFWEASSRGGGAFSGGEDASEGGAEEGAGGAGGSAGAGEGPVITALTPMTIPDV
FPHLPLIAITRNPVFPRFIKIIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVE
SLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSK
RGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTI
RDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLY
KALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEK
FRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFNVTRNYLDWLTSIPWGKYSNENLDL
ARAQAVLEEDHYGMEDVKKRILEFIAVSQLRGSTQGKILCFYGPPGVGKTSIARSIARAL
NREYFRFSVGGMTDVAEIKGHRRTYVGAMPGKIIQCLKKTKTENPLILIDEVDKIGRGYQ
GDPSSALLELLDPEQNANFLDHYLDVPVDLSKVLFICTANVTDTIPEPLRDRMEMINVSG
YVAQEKLAIAERYLVPQARALCGLDESKAKLSSDVLTLLIKQYCRESGVRNLQKQVEKVL
RKSAYKIVSGEAESVEVTPENLQDFVGKPVFTVERMYDVTPPGVVMGLAWTAMGGSTLFV
ETSLRRPQDKDAKGDKDGSLEVTGQLGEVMKESARIAYTFARAFLMQHAPANDYLVTSHI
HLHVPEGATPKDGPSAGCTIVTALLSLAMGRPVRQNLAMTGEVSLTGKILPVGGIKEKTI
AAKRAGVTCIVLPAENKKDFYDLAAFITEGLEVHFVEHYREIFDIAFPDEQAEALAVER
Sequence length 959
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
133
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CODAS syndrome Pathogenic; Likely pathogenic rs730880293, rs879255248, rs879255249, rs1599439595 RCV000157620
RCV000157622
RCV000157623
RCV001027666
LONP1-related disorder Pathogenic; Likely pathogenic rs2512386646, rs2512415167, rs2512409407 RCV003388195
RCV003388196
RCV004528645
See cases Likely pathogenic rs2512415212 RCV005647406
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs145873959 RCV005910127
Developmental cataract Uncertain significance rs2145578983 RCV001775025
Familial cancer of breast Likely benign rs201968024 RCV005935101
Gastric cancer Conflicting classifications of pathogenicity rs80050321 RCV005928192
Show/Hide Text Mining Associations (49)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 29518248
Acidosis Lactic Associate 29518248
Alzheimer Disease Associate 35699875
Brain Diseases Associate 31923470
Carcinogenesis Associate 23788038
Carcinoma Non Small Cell Lung Associate 21077998
Cataract Associate 26622071, 37511188
Cerebellar Diseases Associate 30304514
Cerebral Small Vessel Diseases Associate 35699875
Chemical and Drug Induced Liver Injury Associate 37647804