MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.4.21.108	Hydrolases; Acting on peptide bonds (peptidases); Serine endopeptidases; HtrA2 peptidase

Structure

PDB	Resolution (Å)	PDB name
1LCY	2.0	Crystal Structure of the Mitochondrial Serine Protease HtrA2
2PZD	2.75	Crystal Structure of the HtrA2/Omi PDZ Domain Bound to a Phage-Derived Ligand (WTMFWV)
5FHT	1.95	HtrA2 protease mutant V226K
5M3N	1.649	HTRA2 wild-type structure
5M3O	1.7	HTRA2 A141S mutant structure
5TNY	1.7	HTRA2 G399S mutant
5TNZ	1.75	HtrA2 S142D mutant
5TO0	1.9	HTRA2 S276C mutant
5TO1	1.69	HtrA2 exposed (L266R, F303A) mutant
5WYN	2.05	HtrA2 Pathogenic Mutant
7VGE	4.0	Structure of the PDZ deleted variant of HtrA2 protease (S306A)
8AUK	6.2	Cryo-EM structure of human BIRC6 in complex with HTRA2.
8E2K	3.21	Cryo-EM structure of BIRC6/HtrA2-S306A

GO term

GO ontology	GO term	GO description
Biological Process	GO:0007628	adult walking behavior
Biological Process	GO:0007568	aging
Biological Process	GO:0071363	cellular response to growth factor stimulus
Biological Process	GO:0034605	cellular response to heat
Biological Process	GO:0035458	cellular response to interferon-beta
Biological Process	GO:0034599	cellular response to oxidative stress
Biological Process	GO:0071300	cellular response to retinoic acid
Biological Process	GO:0006672	ceramide metabolic process
Biological Process	GO:0097194	execution phase of apoptosis
Biological Process	GO:0030900	forebrain development
Biological Process	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
Biological Process	GO:0007005	mitochondrion organization
Biological Process	GO:0045786	negative regulation of cell cycle
Biological Process	GO:1904924	negative regulation of mitophagy in response to mitochondrial depolarization
Biological Process	GO:1901215	negative regulation of neuron death
Biological Process	GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
Biological Process	GO:0048666	neuron development
Biological Process	GO:0019742	pentacyclic triterpenoid metabolic process
Biological Process	GO:0043065	positive regulation of apoptotic process
Biological Process	GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
Biological Process	GO:2001269	positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
Biological Process	GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
Biological Process	GO:0010822	positive regulation of mitochondrion organization
Biological Process	GO:1903955	positive regulation of protein targeting to mitochondrion
Biological Process	GO:0012501	programmed cell death
Biological Process	GO:0016540	protein autoprocessing
Biological Process	GO:0030163	protein catabolic process
Biological Process	GO:0006508	proteolysis
Biological Process	GO:1903146	regulation of autophagy of mitochondrion
Biological Process	GO:0040014	regulation of multicellular organism growth
Biological Process	GO:0009635	response to herbicide
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0008233	peptidase activity
Molecular Function	GO:0004252	serine-type endopeptidase activity
Molecular Function	GO:0008236	serine-type peptidase activity
Molecular Function	GO:0051082	unfolded protein binding
Cellular Component	GO:0035631	CD40 receptor complex
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0009898	cytoplasmic side of plasma membrane
Cellular Component	GO:0005856	cytoskeleton
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0005758	mitochondrial intermembrane space
Cellular Component	GO:0031966	mitochondrial membrane
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:1905370	serine-type endopeptidase complex

InterPro / Pfam

InterPro	InterPro name
IPR001478	PDZ domain
IPR001940	Peptidase S1C
IPR008915	Peptidase M50
IPR009003	Peptidase S1, PA clan
IPR036034	PDZ superfamily
IPR041489	PDZ domain 6

Pfam	Pfam name
PF02163	Peptidase family M50
PF13365	Trypsin-like peptidase domain
PF17820	PDZ domain

Reactome

Subcellular location

Location	ECO term	Pubmed
Endoplasmic reticulum	ECO:0000269	PubMed:10644717
Mitochondrion intermembrane space
Mitochondrion membrane	ECO:0000305

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract
HP:0000551	Color vision defect
HP:0000651	Diplopia
HP:0000713	Agitation
HP:0000716	Depression
HP:0000726	Dementia
HP:0000727	Frontal lobe dementia
HP:0000735	Impaired social interactions
HP:0000736	Short attention span
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000952	Jaundice
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0001347	Hyperreflexia
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001522	Death in infancy
HP:0001643	Patent ductus arteriosus
HP:0001662	Bradycardia
HP:0001875	Neutropenia
HP:0001998	Neonatal hypoglycemia
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002018	Nausea
HP:0002019	Constipation
HP:0002033	Poor suck
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002067	Bradykinesia
HP:0002079	Hypoplasia of the corpus callosum
HP:0002104	Apnea
HP:0002119	Ventriculomegaly
HP:0002141	Gait imbalance
HP:0002151	Increased serum lactate
HP:0002169	Clonus
HP:0002172	Postural instability
HP:0002490	Increased CSF lactate
HP:0002548	Parkinsonism with favorable response to dopaminergic medication
HP:0002578	Gastroparesis
HP:0002878	Respiratory failure
HP:0003344	3-Methylglutaric aciduria
HP:0003394	Muscle spasm
HP:0003535	3-Methylglutaconic aciduria
HP:0003623	Neonatal onset
HP:0003811	Neonatal death
HP:0004409	Hyposmia
HP:0005484	Secondary microcephaly
HP:0005943	Respiratory arrest
HP:0011968	Feeding difficulties
HP:0012332	Abnormal autonomic nervous system physiology
HP:0012452	Restless legs
HP:0012707	Elevated brain lactate level by MRS
HP:0025269	Panic attack
HP:0030014	Female sexual dysfunction
HP:0040213	Hypopnea
HP:0040307	Male sexual dysfunction
HP:0100543	Cognitive impairment
HP:0100660	Dyskinesia
HP:0100710	Impulsivity
HP:0100785	Insomnia

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
parkinson disease 13- autosomal dominant- susceptibility to	MONDO:0012466	G20	chapter6, Diseases of the nervous system	OMIM:610297
3-methylglutaconic aciduria type 8	MONDO:0044723	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:617248	Orphanet:505208

Summary of O43464

Gene: HTRA2, OMI, PRSS25
Protein: Serine protease HTRA2, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of O43464

Gene: HTRA2, OMI, PRSS25 Protein: Serine protease HTRA2, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: HTRA2, OMI, PRSS25
Protein: Serine protease HTRA2, mitochondrial