Aliases for HTRA1 Gene
External Ids for HTRA1 Gene
Previous HGNC Symbols for HTRA1 Gene
Previous GeneCards Identifiers for HTRA1 Gene
This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
GeneCards Summary for HTRA1 Gene
HTRA1 (HtrA Serine Peptidase 1) is a Protein Coding gene. Diseases associated with HTRA1 include Carasil Syndrome and Macular Degeneration, Age-Related, 7. Among its related pathways are Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and insulin-like growth factor binding. An important paralog of this gene is HTRA2.
UniProtKB/Swiss-Prot for HTRA1 Gene
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.