LONP1

Chr 19p13.2

lon peptidase 1, mitochondrial

Aliases:: LonHS, hLON, PIM1
MANE:: ENST00000360614.8

OMIM: 605490 ↗NCBI: 9361 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LONP1 · P36776

v62025-08-01

Predicted Aligned Error matrix for LONP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.7/ 100

Confident

959 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)43%
Low(50–70)7%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

CODAS syndrome
0.82
neurodegenerative disease
0.53
hereditary disease
0.42
pyruvate dehydrogenase E1-alpha deficiency
0.37
neurodevelopmental disorder
0.30
poisoning
0.17
Developmental cataract
0.11
cancer
0.10
neoplasm
0.10
glioma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lon protease homolog, mitochondrial

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, PubMed:17579211, PubMed:37327776, PubMed:8248235, PubMed:35870450, PubMed:38688959). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, DELE1, helicase Twinkle (TWNK) and the large ribosomal subunit protein MRPL32/bL32m (PubMed:17579211, PubMed:28377575, PubMed:37327776). MRPL32/bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575). In addtion to its protease activity, has also an ATP-dependent protein folding chaperone activity and functions in mitochondrial protein folding (PubMed:33431889). Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome (PubMed:17420247). Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner (PubMed:17420247). 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:14739292, PubMed:17420247)