Serine protease HTRA1

HTRA1
Identifiers
Aliases	HTRA1, ARMD7, CARASIL, HtrA, L56, ORF480, PRSS11, CADASIL2, HtrA serine peptidase 1
External IDs	OMIM: 602194; MGI: 1929076; HomoloGene: 31114; GeneCards: HTRA1; OMA:HTRA1 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JOA, 2YTW, 3NUM, 3NWU, 3NZI, 3TJN, 3TJO, 3TJQ
Gene location (Human) Chr. Chromosome 10 (human) Band 10q26.13 Start 122,458,551 bp End 122,514,907 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 F3 Start 130,537,841 bp End 130,587,390 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii glomerulus metanephric glomerulus Descending thoracic aorta stromal cell of endometrium ascending aorta synovial membrane middle frontal gyrus synovial joint putamen Top expressed in decidua epithelium of lens facial motor nucleus gastrula cumulus cell calvaria umbilical cord ascending aorta motor neuron tunica media of zone of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function insulin-like growth factor binding growth factor binding peptidase activity serine-type peptidase activity hydrolase activity serine-type endopeptidase activity protein binding identical protein binding Cellular component cytoplasm cytosol membrane extracellular matrix plasma membrane extracellular exosome extracellular region extracellular space collagen-containing extracellular matrix Biological process negative regulation of defense response to virus chorionic trophoblast cell differentiation positive regulation of epithelial cell proliferation placenta development dentinogenesis negative regulation of transforming growth factor beta receptor signaling pathway proteolysis negative regulation of BMP signaling pathway regulation of cell growth extracellular matrix disassembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5654 56213 Ensembl ENSG00000166033 ENSMUSG00000006205 UniProt Q92743 Q9R118 RefSeq (mRNA) NM_002775 NM_019564 RefSeq (protein) NP_002766 NP_062510 Location (UCSC) Chr 10: 122.46 – 122.51 Mb Chr 7: 130.54 – 130.59 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Serine protease HTRA1 is an enzyme that in humans is encoded by the HTRA1 gene. The HTRA1 protein is composed of four distinct protein domains. They are from amino-terminus to carboxyl-terminus an Insulin-like growth factor binding domain, a kazal domain, a trypsin-like peptidase domain and a PDZ domain.

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.

Mutations of this gene are responsible for the development of CARASIL, a genetic form of cerebral vasculopathy.

External links

• GeneReviews/NCBI/NIH/UW entry on CARASIL Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Maeda Syndrome
• OMIM entries on CARASIL

Further reading

• Bradley DT, Zipfel PF, Hughes AE (2011). "Complement in age-related macular degeneration: a focus on function". Eye. 25 (6): 683–693. doi:10.1038/eye.2011.37. PMC 3178140. PMID 21394116.
• Zurawa-Janicka D, Narkiewicz J, Lipińska B (2007). "[Characterization of the HtrA family of proteins]". Postepy Biochem. 53 (1): 27–36. PMID 17718385.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Zumbrunn J, Trueb B (1998). "Localization of the gene for a serine protease with IGF-binding domain (PRSS11) to human chromosome 10q25.3-q26.2". Genomics. 45 (2): 461–2. doi:10.1006/geno.1997.4953. PMID 9344681.
• Hu SI, Carozza M, Klein M, et al. (1999). "Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage". J. Biol. Chem. 273 (51): 34406–12. doi:10.1074/jbc.273.51.34406. PMID 9852107.
• Baldi A, De Luca A, Morini M, et al. (2002). "The HtrA1 serine protease is down-regulated during human melanoma progression and represses growth of metastatic melanoma cells". Oncogene. 21 (43): 6684–8. doi:10.1038/sj.onc.1205911. PMID 12242667. S2CID 9021435.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nie GY, Hampton A, Li Y, et al. (2003). "Identification and cloning of two isoforms of human high-temperature requirement factor A3 (HtrA3), characterization of its genomic structure and comparison of its tissue distribution with HtrA1 and HtrA2". Biochem. J. 371 (Pt 1): 39–48. doi:10.1042/BJ20021569. PMC 1223265. PMID 12513693.
• De Luca A, De Falco M, Severino A, et al. (2003). "Distribution of the serine protease HtrA1 in normal human tissues". J. Histochem. Cytochem. 51 (10): 1279–84. doi:10.1177/002215540305101004. PMID 14500695. S2CID 19726897.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Chien J, Staub J, Hu SI, et al. (2004). "A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer". Oncogene. 23 (8): 1636–44. doi:10.1038/sj.onc.1207271. PMID 14716297.
• Oka C, Tsujimoto R, Kajikawa M, et al. (2004). "HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins". Development. 131 (5): 1041–53. doi:10.1242/dev.00999. PMID 14973287. S2CID 27495047.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Grau S, Baldi A, Bussani R, et al. (2005). "Implications of the serine protease HtrA1 in amyloid precursor protein processing". Proc. Natl. Acad. Sci. U.S.A. 102 (17): 6021–6. doi:10.1073/pnas.0501823102. PMC 1087941. PMID 15855271.
• Ozturk A, Desai PP, Minster RL, et al. (2005). "Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease". Neurobiol. Aging. 26 (8): 1161–5. doi:10.1016/j.neurobiolaging.2004.11.001. PMID 15917099. S2CID 10878355.
• Grau S, Richards PJ, Kerr B, et al. (2006). "The role of human HtrA1 in arthritic disease". J. Biol. Chem. 281 (10): 6124–9. doi:10.1074/jbc.M500361200. PMID 16377621.
• Bowden MA, Di Nezza-Cossens LA, Jobling T, et al. (2006). "Serine proteases HTRA1 and HTRA3 are down-regulated with increasing grades of human endometrial cancer". Gynecol. Oncol. 103 (1): 253–60. doi:10.1016/j.ygyno.2006.03.006. PMID 16650464.
• Chien J, Aletti G, Baldi A, et al. (2006). "Serine protease HtrA1 modulates chemotherapy-induced cytotoxicity". J. Clin. Invest. 116 (7): 1994–2004. doi:10.1172/JCI27698. PMC 1474818. PMID 16767218.
• Dewan A, Liu M, Hartman S, et al. (2006). "HTRA1 promoter polymorphism in wet age-related macular degeneration". Science. 314 (5801): 989–92. doi:10.1126/science.1133807. PMID 17053108. S2CID 85725181.