P36776 · LONM_HUMAN
- ProteinLon protease homolog, mitochondrial
- GeneLONP1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids959 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
May also have a chaperone function in the assembly of inner membrane protein complexes (By similarity).
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).
Catalytic activity
Activity regulation
Features
Showing features for binding site, active site.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Binding site | 523-530 | ATP (UniProtKB | ChEBI) | |||
Active site | 855 | ||||
Active site | 898 | ||||
GO annotations
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameLon protease homolog, mitochondrial
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP36776
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
CODAS syndrome (CODASS)
- Note
- DescriptionA 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.
- See alsoMIM:600373
Natural variants in CODASS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_073338 | 476 | E>A | in CODASS | |
VAR_073339 | 631 | S>Y | in CODASS; dbSNP:rs879255248 | |
VAR_073340 | 670 | A>V | in CODASS; dbSNP:rs770036526 | |
VAR_073341 | 672 | R>C | in CODASS; dbSNP:rs777009012 | |
VAR_073342 | 676 | P>S | in CODASS; dbSNP:rs879255247 | |
VAR_073343 | 679 | R>H | in CODASS; dbSNP:rs549574673 | |
VAR_073344 | 721 | R>G | in CODASS; dbSNP:rs147588238 | |
VAR_073345 | 724 | A>V | in CODASS; dbSNP:rs879255249 | |
VAR_073346 | 749 | P>S | in CODASS; dbSNP:rs2145578983 | |
VAR_073347 | 767 | G>E | in CODASS; dbSNP:rs562553348 | |
VAR_073348 | 927 | missing | in CODASS |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Natural variant | VAR_051564 | 87 | in dbSNP:rs34413649 | ||
Natural variant | VAR_051565 | 241 | in dbSNP:rs11085147 | ||
Natural variant | VAR_073338 | 476 | in CODASS | ||
Mutagenesis | 529 | Abolishes ATPase activity, and presumably ATP-driven protein unfolding, but does not block access to the proteolytic active site or prevent a substrate from binding to it. | |||
Natural variant | VAR_073339 | 631 | in CODASS; dbSNP:rs879255248 | ||
Natural variant | VAR_073340 | 670 | in CODASS; dbSNP:rs770036526 | ||
Natural variant | VAR_073341 | 672 | in CODASS; dbSNP:rs777009012 | ||
Natural variant | VAR_073342 | 676 | in CODASS; dbSNP:rs879255247 | ||
Natural variant | VAR_073343 | 679 | in CODASS; dbSNP:rs549574673 | ||
Natural variant | VAR_073344 | 721 | in CODASS; dbSNP:rs147588238 | ||
Natural variant | VAR_073345 | 724 | in CODASS; dbSNP:rs879255249 | ||
Natural variant | VAR_073346 | 749 | in CODASS; dbSNP:rs2145578983 | ||
Natural variant | VAR_073347 | 767 | in CODASS; dbSNP:rs562553348 | ||
Mutagenesis | 770 | Has low basal, but normal stimulated ATPase activity, and retains peptidase activity. | |||
Mutagenesis | 770 | Has normal basal, but low stimulated ATPase activity, and abolishes peptidase activity. | |||
Natural variant | VAR_067708 | 829 | in dbSNP:rs35804229 | ||
Mutagenesis | 855 | Lacks both ATPase and protease activity, but retains DNA binding activity. | |||
Mutagenesis | 880 | Enhances the basal, but not the stimulated ATPase activity. | |||
Mutagenesis | 893 | Has low basal, but normal stimulated ATPase activity, and retains peptidase activity. | |||
Mutagenesis | 893 | Has normal basal, but low stimulated ATPase activity, and abolishes peptidase activity. | |||
Mutagenesis | 894 | Enhances the basal, but not the stimulated ATPase activity, and retains peptidase activity. | |||
Mutagenesis | 894 | Enhances the basal, but not the stimulated ATPase activity, and abolishes peptidase activity. | |||
Natural variant | VAR_067709 | 911 | in dbSNP:rs1062373 | ||
Natural variant | VAR_073348 | 927 | in CODASS | ||
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,233 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | ||
---|---|---|---|---|---|---|
Transit peptide | 1-67 | UniProt | Mitochondrion | |||
Chain | PRO_0000026734 | 68-959 | UniProt | Lon protease homolog, mitochondrial | ||
Modified residue (large scale data) | 176 | PRIDE | Phosphoserine | |||
Modified residue (large scale data) | 548 | PRIDE | Phosphoserine | |||
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Organized in a ring with a central cavity (PubMed:20222013, PubMed:25369343).
The ATP-binding and proteolytic domains (AP-domain) form a hexameric chamber, while the N-terminal domain is arranged as a trimer of dimers (PubMed:27632940).
DNA and RNA binding is stimulated by substrate and inhibited by ATP binding. Interacts with TWNK and mitochondrial DNA polymerase subunit POLG (PubMed:14739292).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | IntAct | |
---|---|---|---|---|---|
XENO | P36776 | CSN2 P02666 | 6 | EBI-357448, EBI-5260183 | |
BINARY | P36776-1 | LONP1 P36776-1 | 3 | EBI-25473602, EBI-25473602 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Region | 77-102 | Disordered | |||
Domain | 124-370 | Lon N-terminal | |||
Compositional bias | 218-233 | Basic and acidic residues | |||
Region | 218-257 | Disordered | |||
Compositional bias | 241-255 | Basic and acidic residues | |||
Domain | 759-949 | Lon proteolytic | |||
Domain
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 3 isoforms produced by Alternative splicing.
P36776-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length959
- Mass (Da)106,489
- Last updated2000-12-01 v2
- MD5 Checksum23BBC933C5C6A85B52600D3C16957113
P36776-2
- Name2
- Differences from canonical
- 42-105: Missing
P36776-3
- Name3
- Differences from canonical
- 1-196: Missing
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, alternative sequence, compositional bias.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Sequence conflict | 1-55 | in Ref. 1; AAA61616 | |||
Alternative sequence | VSP_055310 | 1-196 | in isoform 3 | ||
Alternative sequence | VSP_054617 | 42-105 | in isoform 2 | ||
Sequence conflict | 65-66 | in Ref. 1; AAA61616 | |||
Compositional bias | 218-233 | Basic and acidic residues | |||
Compositional bias | 241-255 | Basic and acidic residues | |||
Sequence conflict | 257-258 | in Ref. 1; AAA61616 | |||
Sequence conflict | 423 | in Ref. 4; BAG51690 | |||
Sequence conflict | 456 | in Ref. 1; AAA61616 | |||
Sequence conflict | 501 | in Ref. 4; BAG51690 | |||
Sequence conflict | 556 | in Ref. 1; AAA61616 | |||
Sequence conflict | 842 | in Ref. 1; AAA61616 | |||
Sequence conflict | 859 | in Ref. 1; AAA61616 | |||
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U02389 EMBL· GenBank· DDBJ | AAA61616.1 EMBL· GenBank· DDBJ | mRNA | ||
HQ204946 EMBL· GenBank· DDBJ | ADP90374.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204947 EMBL· GenBank· DDBJ | ADP90375.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204948 EMBL· GenBank· DDBJ | ADP90376.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204949 EMBL· GenBank· DDBJ | ADP90377.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204950 EMBL· GenBank· DDBJ | ADP90378.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204951 EMBL· GenBank· DDBJ | ADP90379.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204952 EMBL· GenBank· DDBJ | ADP90380.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204953 EMBL· GenBank· DDBJ | ADP90381.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204954 EMBL· GenBank· DDBJ | ADP90382.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204955 EMBL· GenBank· DDBJ | ADP90383.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204956 EMBL· GenBank· DDBJ | ADP90384.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204957 EMBL· GenBank· DDBJ | ADP90385.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204958 EMBL· GenBank· DDBJ | ADP90386.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204959 EMBL· GenBank· DDBJ | ADP90387.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204960 EMBL· GenBank· DDBJ | ADP90388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204961 EMBL· GenBank· DDBJ | ADP90389.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204962 EMBL· GenBank· DDBJ | ADP90390.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204963 EMBL· GenBank· DDBJ | ADP90391.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204964 EMBL· GenBank· DDBJ | ADP90392.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204965 EMBL· GenBank· DDBJ | ADP90393.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204966 EMBL· GenBank· DDBJ | ADP90394.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204968 EMBL· GenBank· DDBJ | ADP90396.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204969 EMBL· GenBank· DDBJ | ADP90397.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204970 EMBL· GenBank· DDBJ | ADP90398.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204971 EMBL· GenBank· DDBJ | ADP90399.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204972 EMBL· GenBank· DDBJ | ADP90400.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204973 EMBL· GenBank· DDBJ | ADP90401.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204974 EMBL· GenBank· DDBJ | ADP90402.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204975 EMBL· GenBank· DDBJ | ADP90403.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204976 EMBL· GenBank· DDBJ | ADP90404.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204977 EMBL· GenBank· DDBJ | ADP90405.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204978 EMBL· GenBank· DDBJ | ADP90406.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204979 EMBL· GenBank· DDBJ | ADP90407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204980 EMBL· GenBank· DDBJ | ADP90408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204981 EMBL· GenBank· DDBJ | ADP90409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204982 EMBL· GenBank· DDBJ | ADP90410.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204983 EMBL· GenBank· DDBJ | ADP90411.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204984 EMBL· GenBank· DDBJ | ADP90412.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ204985 EMBL· GenBank· DDBJ | ADP90413.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059309 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059296 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059297 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059298 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059299 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059300 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059301 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059302 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059303 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059304 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059305 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059306 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059307 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF059308 EMBL· GenBank· DDBJ | AAD24414.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK056366 EMBL· GenBank· DDBJ | BAG51690.1 EMBL· GenBank· DDBJ | mRNA | ||
AK096626 EMBL· GenBank· DDBJ | BAC04829.1 EMBL· GenBank· DDBJ | mRNA | ||
AC011499 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471139 EMBL· GenBank· DDBJ | EAW69151.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471139 EMBL· GenBank· DDBJ | EAW69154.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC000235 EMBL· GenBank· DDBJ | AAH00235.1 EMBL· GenBank· DDBJ | mRNA | ||
X74215 EMBL· GenBank· DDBJ | CAA52291.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
X76040 EMBL· GenBank· DDBJ | CAA53625.1 EMBL· GenBank· DDBJ | mRNA |