LONP1

LONP1 is 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.

Full Name

LONP1

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).

Biological Process

Cellular response to oxidative stressManual Assertion Based On ExperimentIDA:UniProtKB
Chaperone-mediated protein complex assemblyManual Assertion Based On ExperimentIBA:GO_Central
Mitochondrial DNA metabolic process1 PublicationNAS:UniProtKB
Mitochondrial genome maintenance1 PublicationNAS:UniProtKB
Mitochondrion organizationManual Assertion Based On ExperimentIMP:UniProtKB
Oxidation-dependent protein catabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Protein quality control for misfolded or incompletely synthesized proteinsManual Assertion Based On ExperimentIBA:GO_Central
Proteolysis involved in cellular protein catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Response to hypoxiaManual Assertion Based On ExperimentIEP:UniProtKB

Cellular Location

Mitochondrion matrix

Involvement in disease

CODAS syndrome (CODASS):
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.