MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.4.21.53	Hydrolases; Acting on peptide bonds (peptidases); Serine endopeptidases; endopeptidase La

Structure

PDB	Resolution (Å)	PDB name
2X36	2.0	Structure of the proteolytic domain of the Human Mitochondrial Lon protease
6WYS	2.229	Lon protease proteolytic domain
6WZV	2.51	Lon protease proteolytic domain
6X1M	3.51	Lon protease proteolytic domain complexed with covalent boronic acid inhibitor
6X27	2.12	Lon protease proteolytic domain complexed with bortezomib
7KRZ	3.2	Human mitochondrial LONP1 in complex with Bortezomib
7KSL	3.5	Substrate-free human mitochondrial LONP1
7KSM	3.2	Human mitochondrial LONP1 with endogenous substrate
7NFY	3.9	P1a-state of wild type human mitochondrial LONP1 protease with bound substrate protein and ATPgS
7NG4	4.4	P1b-state of wild type human mitochondrial LONP1 protease with bound endogenous substrate protein and in presence of ATP/ADP mix
7NG5	3.8	P1c-state of wild type human mitochondrial LONP1 protease with bound substrate protein in presence of ATP/ADP mix
7NGC	7.5	P2a-state of wild type human mitochondrial LONP1 protease with bound substrate protein and in presence of ATPgS
7NGF	5.6	P2c-state of wild type human mitochondrial LONP1 protease with bound endogenous substrate protein and in presence of ATP/ADP mix
7NGL	3.8	R-state of wild type human mitochondrial LONP1 protease bound to endogenous ADP
7NGP	15.0	D1-state of wild type human mitochondrial LONP1 protease
7NGQ	12.0	Human mitochondrial Lon protease homolog, D2-state
7OXO	3.9	human LonP1, R-state, incubated in AMPPCP
7P09	2.7	Human mitochondrial Lon protease with substrate in the ATPase domain
7P0B	4.11	Human mitochondrial Lon protease without substrate
7P0M	2.75	Human mitochondrial Lon protease with substrate in the ATPase and protease domains

GO term

GO ontology	GO term	GO description
Biological Process	GO:0007568	aging
Biological Process	GO:0034599	cellular response to oxidative stress
Biological Process	GO:0051131	chaperone-mediated protein complex assembly
Biological Process	GO:0032042	mitochondrial DNA metabolic process
Biological Process	GO:0000002	mitochondrial genome maintenance
Biological Process	GO:0007005	mitochondrion organization
Biological Process	GO:0046627	negative regulation of insulin receptor signaling pathway
Biological Process	GO:0070407	oxidation-dependent protein catabolic process
Biological Process	GO:0006515	protein quality control for misfolded or incompletely synthesized proteins
Biological Process	GO:0051603	proteolysis involved in protein catabolic process
Biological Process	GO:0050730	regulation of peptidyl-tyrosine phosphorylation
Biological Process	GO:0010044	response to aluminum ion
Biological Process	GO:0009725	response to hormone
Biological Process	GO:0001666	response to hypoxia
Molecular Function	GO:0043531	ADP binding
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0016887	ATP hydrolysis activity
Molecular Function	GO:0004176	ATP-dependent peptidase activity
Molecular Function	GO:0070182	DNA polymerase binding
Molecular Function	GO:0051880	G-quadruplex DNA binding
Molecular Function	GO:0042731	PH domain binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0043560	insulin receptor substrate binding
Molecular Function	GO:0001018	mitochondrial promoter sequence-specific DNA binding
Molecular Function	GO:0043565	sequence-specific DNA binding
Molecular Function	GO:0004252	serine-type endopeptidase activity
Molecular Function	GO:0003697	single-stranded DNA binding
Molecular Function	GO:0003727	single-stranded RNA binding
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0005759	mitochondrial matrix
Cellular Component	GO:0042645	mitochondrial nucleoid
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005654	nucleoplasm

InterPro / Pfam

InterPro	InterPro name
IPR003111	Lon protease, N-terminal domain
IPR003593	AAA+ ATPase domain
IPR003959	ATPase, AAA-type, core
IPR004815	Lon protease, bacterial/eukaryotic-type
IPR008268	Peptidase S16, active site
IPR008269	Peptidase S16, Lon proteolytic domain
IPR014721	Ribosomal protein S5 domain 2-type fold, subgroup
IPR015947	PUA-like superfamily
IPR020568	Ribosomal protein S5 domain 2-type fold
IPR027065	Lon protease
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR027503	Lon protease homologue, chloroplastic/mitochondrial
IPR046336	Lon protease, N-terminal domain superfamily

Pfam	Pfam name
PF00004	ATPase family associated with various cellular activities (AAA)
PF02190	ATP-dependent protease La (LON) substrate-binding domain
PF05362	Lon protease (S16) C-terminal proteolytic domain

Reactome

Subcellular location

Location	ECO term	Pubmed
Mitochondrion matrix	ECO:0000255	PubMed:7961901

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000072	Hydroureter
HP:0000143	Rectovaginal fistula
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000396	Overfolded helix
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000682	Abnormal dental enamel morphology
HP:0000684	Delayed eruption of teeth
HP:0000707	Abnormality of the nervous system
HP:0000776	Congenital diaphragmatic hernia
HP:0000884	Prominent sternum
HP:0000954	Single transverse palmar crease
HP:0001156	Brachydactyly
HP:0001216	Delayed ossification of carpal bones
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001332	Dystonia
HP:0001338	Partial agenesis of the corpus callosum
HP:0001371	Flexion contracture
HP:0001374	Congenital hip dislocation
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001539	Omphalocele
HP:0001561	Polyhydramnios
HP:0001600	Abnormality of the larynx
HP:0001604	Vocal cord paresis
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001761	Pes cavus
HP:0001883	Talipes
HP:0001999	Abnormal facial shape
HP:0002020	Gastroesophageal reflux
HP:0002023	Anal atresia
HP:0002059	Cerebral atrophy
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002089	Pulmonary hypoplasia
HP:0002098	Respiratory distress
HP:0002100	Recurrent aspiration pneumonia
HP:0002119	Ventriculomegaly
HP:0002126	Polymicrogyria
HP:0002151	Increased serum lactate
HP:0002171	Gliosis
HP:0002187	Intellectual disability, profound
HP:0002329	Drowsiness
HP:0002350	Cerebellar cyst
HP:0002490	Increased CSF lactate
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002644	Abnormal pelvic girdle bone morphology
HP:0002650	Scoliosis
HP:0002682	Broad skull
HP:0002719	Recurrent infections
HP:0002750	Delayed skeletal maturation
HP:0002761	Generalized joint laxity
HP:0002857	Genu valgum
HP:0003128	Lactic acidosis
HP:0003177	Squared iliac bones
HP:0003196	Short nose
HP:0003311	Hypoplasia of the odontoid process
HP:0003312	Abnormal form of the vertebral bodies
HP:0003417	Coronal cleft vertebrae
HP:0003542	Increased serum pyruvate
HP:0004122	Midline defect of the nose
HP:0004322	Short stature
HP:0004626	Lumbar scoliosis
HP:0004902	Congenital lactic acidosis
HP:0005242	Extrahepatic biliary duct atresia
HP:0005280	Depressed nasal bridge
HP:0005692	Joint hyperflexibility
HP:0005792	Short humerus
HP:0005930	Abnormal epiphysis morphology
HP:0006297	Enamel hypoplasia
HP:0006482	Abnormality of dental morphology
HP:0006695	Atrioventricular canal defect
HP:0006799	Basal ganglia cysts
HP:0006956	Lateral ventricle dilatation
HP:0006970	Periventricular leukomalacia
HP:0006999	Basal ganglia gliosis
HP:0008081	Pes valgus
HP:0009623	Proximal placement of thumb
HP:0009803	Short phalanx of finger
HP:0009826	Limb undergrowth
HP:0009901	Crumpled ear
HP:0010049	Short metacarpal
HP:0010315	Aplasia/Hypoplasia of the diaphragm
HP:0010576	Intracranial cystic lesion
HP:0010577	Absent epiphyses
HP:0011193	EEG with focal spikes
HP:0011196	EEG with focal sharp waves
HP:0011199	EEG with generalized sharp slow waves
HP:0011471	Gastrostomy tube feeding in infancy
HP:0011968	Feeding difficulties
HP:0012128	Basal ganglia necrosis
HP:0012368	Flat face
HP:0012418	Hypoxemia
HP:0012443	Abnormality of brain morphology
HP:0012469	Infantile spasms
HP:0012698	Cerebellar gliosis
HP:0025361	Abnormality of medullary pyramid morphology
HP:0030680	Abnormality of cardiovascular system morphology
HP:0030917	Low APGAR score
HP:0100255	Metaphyseal dysplasia
HP:0500231	Abnormal CSF pyruvate family amino acid concentration

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Supported
adrenal gland	glandular cells	High	Supported
appendix	glandular cells	High	Supported
appendix	lymphoid tissue	High	Supported
bone marrow	hematopoietic cells	Medium	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	High	Supported
caudate	glial cells	Medium	Supported
caudate	neuronal cells	Medium	Supported
cerebellum	Purkinje cells	Medium	Supported
cerebellum	cells in molecular layer	Medium	Supported
cerebral cortex	endothelial cells	Medium	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	Medium	Supported
cervix	glandular cells	Medium	Supported
cervix	squamous epithelial cells	Medium	Supported
colon	endothelial cells	Low	Supported
colon	glandular cells	High	Supported
colon	peripheral nerve/ganglion	Medium	Supported
duodenum	glandular cells	High	Supported
endometrium 1	cells in endometrial stroma	Low	Supported
endometrium 1	glandular cells	Medium	Supported
endometrium 2	cells in endometrial stroma	Medium	Supported
endometrium 2	glandular cells	Medium	Supported
epididymis	glandular cells	High	Supported
esophagus	squamous epithelial cells	Medium	Supported
fallopian tube	glandular cells	High	Supported
gallbladder	glandular cells	High	Supported
heart muscle	cardiomyocytes	Low	Supported
hippocampus	glial cells	Low	Supported
hippocampus	neuronal cells	Medium	Supported
kidney	bowman's capsule	Low	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	collecting ducts	Medium	Supported
kidney	distal tubules	High	Supported
kidney	proximal tubules (cell body)	High	Supported
liver	cholangiocytes	Low	Supported
liver	hepatocytes	Low	Supported
lung	alveolar cells type II	Medium	Supported
lung	endothelial cells	Low	Supported
lung	macrophages	High	Supported
lymph node	germinal center cells	High	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	Medium	Supported
oral mucosa	squamous epithelial cells	Medium	Supported
ovary	ovarian stroma cells	Low	Supported
pancreas	exocrine glandular cells	Medium	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	High	Supported
placenta	cytotrophoblasts	Medium	Supported
placenta	endothelial cells	Medium	Supported
placenta	hofbauer cells	High	Supported
placenta	syncytiotrophoblasts - cell body	High	Supported
placenta	syncytiotrophoblasts - microvilli	High	Supported
prostate	glandular cells	Medium	Supported
rectum	glandular cells	High	Supported
salivary gland	glandular cells	Low	Supported
seminal vesicle	glandular cells	High	Supported
skeletal muscle	myocytes	Low	Supported
skin 1	Langerhans	Medium	Supported
skin 1	fibroblasts	Low	Supported
skin 1	keratinocytes	High	Supported
skin 1	melanocytes	Medium	Supported
skin 2	epidermal cells	Medium	Supported
small intestine	glandular cells	Medium	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	fibroblasts	Low	Supported
soft tissue 2	fibroblasts	Low	Supported
spleen	cells in red pulp	Low	Supported
spleen	cells in white pulp	Medium	Supported
stomach 1	glandular cells	High	Supported
stomach 2	glandular cells	Medium	Supported
testis	Leydig cells	Medium	Supported
testis	elongated or late spermatids	Medium	Supported
testis	pachytene spermatocytes	Medium	Supported
testis	preleptotene spermatocytes	High	Supported
testis	round or early spermatids	Medium	Supported
testis	sertoli cells	Medium	Supported
testis	spermatogonia cells	High	Supported
tonsil	germinal center cells	High	Supported
tonsil	non-germinal center cells	Low	Supported
tonsil	squamous epithelial cells	Medium	Supported
urinary bladder	urothelial cells	High	Supported
vagina	squamous epithelial cells	Medium	Supported

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
pyruvate dehydrogenase e1-alpha deficiency	MONDO:0010717	E74	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:312170	Orphanet:79243
codas syndrome	MONDO:0010879	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:600373	Orphanet:1458

Summary of P36776

Gene: LONP1, PRSS15
Protein: Lon protease homolog, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P36776

Gene: LONP1, PRSS15 Protein: Lon protease homolog, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: LONP1, PRSS15
Protein: Lon protease homolog, mitochondrial