LONP1 - lon peptidase 1, mitochondrial Gene

Also Known as LON; LONP; PIM1; hLON; LonHS; CODASS; PRSS15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9361

About LONP1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:5,691,834-5,720,452 (from NCBI)

This gene has 15 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in adrenal (RPKM 45.5), kidney (RPKM 21.0) and 25 other tissues.

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]

LONP1 Products (3)

mRNA	Protein	Name
NM_001276479.2	NP_001263408.1	lon protease homolog, mitochondrial isoform 2
NM_001276480.1	NP_001263409.1	lon protease homolog, mitochondrial isoform 3
NM_004793.4	NP_004784.2	lon protease homolog, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ADP binding	IDA IDA: Inferred from direct assay	14739292	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	14739292	GOA
enables ATP-dependent peptidase activity	IDA IDA: Inferred from direct assay	8248235	GOA
enables ATP-dependent peptidase activity	IMP IMP: Inferred from mutant phenotype	14739292	GOA
enables DNA polymerase binding	IPI IPI: Inferred from physical interaction	14739292	GOA
enables G-quadruplex DNA binding	IDA IDA: Inferred from direct assay	18174225	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	14739292	GOA
NOT enables mitochondrial promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9485316	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14739292	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	14739292	GOA
enables single-stranded RNA binding	IDA IDA: Inferred from direct assay	14739292	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to oxidative stress	IDA IDA: Inferred from direct assay	17420247	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	15683722	GOA
involved in oxidation-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	12198491	GOA
involved in protein catabolic process	IDA IDA: Inferred from direct assay	37327776	GOA
involved in proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	8248235	GOA
involved in response to hypoxia	IEP IEP: Inferred from expression pattern	17418790	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IMP IMP: Inferred from mutant phenotype	12198491	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	8248235	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LONP1 Protein Structure

LON_substr_bdg

AAA

Lon_C

0
200
400
600
800
959 a.a.

Protein Preferred Names	Protein Names
lon protease homolog, mitochondrial	hLON ATP-dependent protease

Related Diseases

Diseases	Alias
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Japanese Spotted Fever	Oriental Spotted Fever Rickettsia Japonica Spotted Fever
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Glossopharyngeal Neuralgia	Glossopharyngeal Nerve Diseases
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic Cardiomyopathy 16 CMH16 Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy Familial Hypertrophic 16 Cardiomyopathy, Familial Hypertrophic 16 Cardiomyopathy, Hypertrophic, Familial, Type 16
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic Cardiomyopathy 18 CMH18 Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy Familial Hypertrophic 18 Cardiomyopathy, Familial Hypertrophic 18 Cardiomyopathy, Hypertrophic, Familial, Type 18
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic Cardiomyopathy 17 CMH17 Cardiomyopathy, Hypertrophic, 17 Cardiomyopathy Familial Hypertrophic 17 Cardiomyopathy, Familial Hypertrophic 17 Cardiomyopathy, Hypertrophic, Familial, Type 17
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Leukodystrophy, Hypomyelinating, 4	Mitochondrial Hsp60 Chaperonopathy Hypomyelinating Leukodystrophy 4 HLD4 Mitchap60 Disease Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation Mitchap-60 Disease Leukodystrophy, Hypomyelinating, Type 4
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Scoliosis
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153034	LONP1-IN-2		99.43%	Unkown
HY-158412	BT317		99.81%	Unkown
HY-RS07734	LONP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24767	Lonp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18289	Lonp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LONP1	MGD	MGI:1921392
Macaca mulatta	LONP1	VGNC	VGNC:74500
Felis catus	LONP1	VGNC	VGNC:69089
Rattus norvegicus	LONP1	RGD	RGD:621598
Bos taurus	LONP1	VGNC	VGNC:30947
Canis familiaris	LONP1	VGNC	VGNC:54321
Others	LONP1	NCBI