Serine protease HTRA1

Serine protease HTRA1 is an enzyme that in humans is encoded by the HTRA1 gene.^[5][6] 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.

HTRA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JOA, 2YTW, 3NUM, 3NWU, 3NZI, 3TJN, 3TJO, 3TJQ
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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q26.13 Start 122,458,551 bp[1] End 122,514,907 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 130,537,841 bp[2] End 130,587,390 bp[2]
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 [3] [4]
Wikidata
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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.^[6]

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