serine protease HTRA1; high-temperature requirement A serine peptidase 1; L56; serine protease 11 (HTRA1, HTRA, PRSS11)
Jump to navigation
Jump to search
Function
- serine protease
- may regulate availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins
- represses signaling by TGF-beta family members
Structure
- belongs to the peptidase S1B family
- contains 1 IGFBP N-terminal domain
- contains 1 Kazal-like domain
- contains 1 PDZ domain (DHR domain)
Compartment
Expression
- expressed in a variety of tissues
- strongest expression in placenta
Pathology
- polymorphism in the promoter region of HTRA1 are the cause of susceptibility to age-related macular degeneration type 7 (ARMD7)
- defects in HTRA1 are the cause of CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts & leukoencephalopathy
More general terms
References
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5654
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5654
- OMIM: https://mirror.omim.org/entry/600142
- OMIM: https://mirror.omim.org/entry/602194
- OMIM: https://mirror.omim.org/entry/610149
- UniProt: http://www.uniprot.org/uniprot/Q92743.html