HTRA2
entrez
27429
canonical
uniprot
O43464
canonical
ensembl
ENSG00000115317
resolver
ensp
ENSP00000258080
resolver
ensp
ENSP00000312893
resolver
ensp
ENSP00000399166
resolver
ensp
ENSP00000512836
resolver
enst
ENST00000696727
resolver
genesymbol
HTRA2
resolver
genesymbol_syn
OMI
resolver
genesymbol_syn
PRSS25
resolver
hgnc
HGNC:14348
resolver
uniprot
A0A384MDW9
resolver
uniprot
A0A8Q3SIX7
resolver
uniprot
Q9HBZ4
resolver
uniprot
Q9P0Y3
resolver
uniprot
Q9P0Y4
resolver
uniprot_entry
A0A384MDW9_HUMAN
resolver
uniprot_entry
A0A8Q3SIX7_HUMAN
resolver
uniprot_entry
HTRA2_HUMAN
resolver
uniprot_sec
Q9HBZ4
resolver
uniprot_sec
Q9P0Y3
resolver
uniprot_sec
Q9P0Y4
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by BIRC6. {ECO:0000269|PubMed:36758104, ECO:0000269|PubMed:36758105}.
uniprot
proteins
amino_acid_sequence
MAAPRAGRGAGWSLRAWRALGGIRWGRRPRLTPDLRALLTSGTSDPRARVTYGTPSLWARLSVGVTEPRACLTSGTPGPRAQLTAVTPDTRTREASENSGTRSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIADVVEKTAPAVVYIEILDRHPFLGREVPISNGSGFVVAADGLIVTNAHVVADRRRVRVRLLSGDTYEAVVTAVDPVADIATLRIQTKEPLPTLPLGRSADVRQGEFVVAMGSPFALQNTITSGIVSSAQRPARDLGLPQTNVEYIQTDAAIDFGNSGGPLVNLDGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria 8 (MGCA8) [MIM:617248]: An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3-methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy. {ECO:0000269|PubMed:27208207, ECO:0000269|PubMed:27696117}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Parkinson disease 13 (PARK13) [MIM:610297]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269|PubMed:15961413, ECO:0000269|PubMed:18401856}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.108
uniprot
proteins
function
FUNCTION: [Isoform 1]: Serine protease that shows proteolytic activity against a non-specific substrate beta-casein (PubMed:10873535). Promotes apoptosis by either relieving the inhibition of BIRC proteins on caspases, leading to an increase in caspase activity; or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism (PubMed:15200957). Cleaves BIRC6 and relieves its inhibition on CASP3, CASP7 and CASP9, but it is also prone to inhibition by BIRC6 (PubMed:36758104, PubMed:36758105). Cleaves THAP5 and promotes its degradation during apoptosis (PubMed:19502560). {ECO:0000269|PubMed:10873535, ECO:0000269|PubMed:15200957, ECO:0000269|PubMed:19502560, ECO:0000269|PubMed:36758104, ECO:0000269|PubMed:36758105}.; FUNCTION: [Isoform 2]: Seems to be proteolytically inactive. {ECO:0000269|PubMed:10995577}.
uniprot
proteins
mass_dalton
48841
uniprot
proteins
mutagenesis
MUTAGEN 134; /note="A->M: Loss of interaction with XIAP. Loss of inhibition of XIAP activity."; /evidence="ECO:0000269|PubMed:11583623"; MUTAGEN 306; /note="S->A: Loss of protease activity."; /evidence="ECO:0000269|PubMed:10644717
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by BIRC6; this activity is inhibited by DIABLO/SMAC. {ECO:0000269|PubMed:36758104, ECO:0000269|PubMed:36758105}.; PTM: Autoproteolytically activated. {ECO:0000269|PubMed:10873535}.
uniprot
proteins
protein_family
Peptidase S1C family
uniprot
proteins
pubmed
10644717
uniprot
proteins
pubmed
10873535
uniprot
proteins
pubmed
10971580
uniprot
proteins
pubmed
10995577
uniprot
proteins
pubmed
11583623
uniprot
proteins
pubmed
11967569
uniprot
proteins
pubmed
15200957
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15961413
uniprot
proteins
pubmed
18364387
uniprot
proteins
pubmed
18401856
uniprot
proteins
pubmed
19502560
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23479728
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25422467
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27208207
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
27696117
uniprot
proteins
pubmed
36758104
uniprot
proteins
pubmed
36758105
uniprot
proteins
sequence_length
458
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Mitochondrion membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Predominantly present in the intermembrane space. Released into the cytosol following apoptotic stimuli, such as UV treatment, and stimulation of mitochondria with caspase-8 truncated BID/tBID.; SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum {ECO:0000269|PubMed:10644717}.
uniprot
proteins
transmembrane_region
TRANSMEM 105..125; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins