Homo sapiens Protein: HTRA1 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-91908.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | HTRA1 | ||||||||||||||||||||||
Protein Name | HtrA serine peptidase 1 | ||||||||||||||||||||||
Synonyms | ARMD7; CARASIL; HtrA; L56; ORF480; PRSS11; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000357980 | ||||||||||||||||||||||
InnateDB Gene | IDBG-91906 (HTRA1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets. {ECO:0000269PubMed:16377621, ECO:0000269PubMed:20671064, ECO:0000269PubMed:9852107}. | ||||||||||||||||||||||
Subcellular Localization | Secreted. Cytoplasm, cytosol. Note=Predominantly secreted. Also found associated with the plasma membrane. | ||||||||||||||||||||||
Disease Associations | Macular degeneration, age-related, 7 (ARMD7) [MIM:610149]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:17053108, ECO:0000269PubMed:17053109}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (CARASIL) [MIM:600142]: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers. {ECO:0000269PubMed:19387015}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Widely expressed, with strongest expression in placenta (at protein level). Secreted by synovial fibroblasts. Up- regulated in osteoarthritis and rheumatoid arthritis synovial fluids and cartilage as compared with non-arthritic (at protein level). {ECO:0000269PubMed:15208355, ECO:0000269PubMed:16377621, ECO:0000269PubMed:9852107}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000867
Insulin-like growth factor-binding protein, IGFBP IPR001254 Peptidase S1 IPR001478 PDZ domain IPR001940 Peptidase S1C IPR002350 Kazal domain IPR009003 Trypsin-like cysteine/serine peptidase domain |
||||||||||||||||||||||
PFAM |
PF00219
PF00089 PF00595 PF13180 PF00050 PF07648 |
||||||||||||||||||||||
PRINTS |
PR00834
|
||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00121
SM00020 SM00228 SM00280 |
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q92743 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q92743 | ||||||||||||||||||||||
TrEMBL | H0Y7G9 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5654 | ||||||||||||||||||||||
UniGene | Hs.501280 | ||||||||||||||||||||||
RefSeq | NP_002766 | ||||||||||||||||||||||
HUGO | HGNC:9476 | ||||||||||||||||||||||
OMIM | 602194 | ||||||||||||||||||||||
CCDS | CCDS7630 | ||||||||||||||||||||||
HPRD | 03725 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF097709 AF157623 AK092476 AK290089 BX842242 CH471066 Y07921 | ||||||||||||||||||||||
GenPept | AAC97211 AAD41525 BAF82778 BAG52557 CAA69226 EAW49312 EAW49313 | ||||||||||||||||||||||