LONP1 - lon peptidase 1, mitochondrial Gene

Homo sapiens

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

Gene ID: 9361 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153034	LONP1-IN-2	Inhibitor	99.74%	Unkown
HY-158412	BT317		/	Unkown
HY-N7196	Myrtucommulone A	Inhibitor	/	Unkown
HY-RS07734	LONP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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