LONP1 (lon peptidase 1, mitochondrial)

2012-11-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
CODASS,LON,LONP,LonHS,PIM1,PRSS15,hLON
FUSION GENES

Other Information

Locus ID:

NCBI: 9361
MIM: 605490
HGNC: 9479
Ensembl: ENSG00000196365

Variants:

dbSNP: 9361
ClinVar: 9361
TCGA: ENSG00000196365
COSMIC: LONP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196365ENST00000360614P36776
ENSG00000196365ENST00000540670P36776
ENSG00000196365ENST00000585374K7EKE6
ENSG00000196365ENST00000586617K7ERS1
ENSG00000196365ENST00000587365K7ER56
ENSG00000196365ENST00000589473K7ERR6
ENSG00000196365ENST00000590206K7ER27
ENSG00000196365ENST00000590558K7EQF8
ENSG00000196365ENST00000590729K7EJE8
ENSG00000196365ENST00000593119P36776

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121984912002Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.171
232011272013Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease.82
156837222005Downregulation of the human Lon protease impairs mitochondrial structure and function and causes cell death.62
174202472007Roles for the human ATP-dependent Lon protease in mitochondrial DNA maintenance.43
147392922004DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate.40
255748262015CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.36
216595322011Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.31
266274752015LON is the master protease that protects against protein aggregation in human mitochondria through direct degradation of misfolded proteins.28
183780942008Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).27
237880382013Overexpression of Lon contributes to survival and aggressive phenotype of cancer cells through mitochondrial complex I-mediated generation of reactive oxygen species.24

Citation

Dessen P

LONP1 (lon peptidase 1, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53020/lonp1