Homo sapiens Protein: HTRA2 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-380915.5 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | HTRA2 | ||||||||||||||||||||||||
Protein Name | HtrA serine peptidase 2 | ||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000399166 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-57753 (HTRA2) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive. {ECO:0000269PubMed:15200957, ECO:0000269PubMed:19502560}. | ||||||||||||||||||||||||
Subcellular Localization | 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. | ||||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:15961413}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | Isoform 1 is ubiquitous. Isoform 2 is expressed predominantly in the kidney, colon and thyroid. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 64 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR001254
Peptidase S1 IPR001478 PDZ domain IPR001940 Peptidase S1C IPR009003 Trypsin-like cysteine/serine peptidase domain |
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PFAM |
PF00089
PF00595 PF13180 |
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PRINTS |
PR00834
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PIRSF | |||||||||||||||||||||||||
SMART |
SM00020
SM00228 |
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | O43464 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-O43464 | ||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 27429 | ||||||||||||||||||||||||
UniGene | Hs.731388 | ||||||||||||||||||||||||
RefSeq | XP_005264323 | ||||||||||||||||||||||||
HUGO | HGNC:14348 | ||||||||||||||||||||||||
OMIM | 606441 | ||||||||||||||||||||||||
CCDS | |||||||||||||||||||||||||
HPRD | 05919 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC006544 AF020760 AF141305 AF141306 AF141307 AF184911 BC000096 | ||||||||||||||||||||||||
GenPept | AAB94569 AAF66596 AAF66597 AAF66598 AAG13126 AAH00096 | ||||||||||||||||||||||||