• Gene id: 5654

Gene Summary

• Gene Symbol: HTRA1   Gene   UCSC   Ensembl
• Aliases: ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11
• Gene name: HtrA serine peptidase 1
• Alternate names: serine protease HTRA1, IGFBP5-protease, high-temperature requirement A serine peptidase 1, protease, serine, 11 (IGF binding),
• Gene location: 10q26.13 (122461552: 122514906)     Exons: 9     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 602193

Protein Summary

• Protein general information: Q92743  
  • Name: Serine protease HTRA1 (EC 3.4.21. ) (High temperature requirement A serine peptidase 1) (L56) (Serine protease 11)
  • Length: 480  
  • Mass: 51287
  • 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 prot
• Sequence:

  MQIPRAALLPLLLLLLAAPASAQLSRAGRSAPLAAGCPDRCEPARCPPQPEHCEGGRARDACGCCEVCGAPEGAA
  CGLQEGPCGEGLQCVVPFGVPASATVRRRAQAGLCVCASSEPVCGSDANTYANLCQLRAASRRSERLHRPPVIVL
  QRGACGQGQEDPNSLRHKYNFIADVVEKIAPAVVHIELFRKLPFSKREVPVASGSGFIVSEDGLIVTNAHVVTNK
  HRVKVELKNGATYEAKIKDVDEKADIALIKIDHQGKLPVLLLGRSSELRPGEFVVAIGSPFSLQNTVTTGIVSTT
  QRGGKELGLRNSDMDYIQTDAIINYGNSGGPLVNLDGEVIGINTLKVTAGISFAIPSDKIKKFLTESHDRQAKGK
  AITKKKYIGIRMMSLTSSKAKELKDRHRDFPDVISGAYIIEVIPDTPAEAGGLKENDVIISINGQSVVSANDVSD
  VIKRESTLNMVVRRGNEDIMITVIPEEIDP

• Structural information:
  • Protein Domains: (33..10-)
    (/note="IGFBP-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00653-)
    (98..15-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (365..46-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR009030  IPR000867  IPR002350  IPR036058  IPR001478   IPR041489  IPR036034  IPR009003  IPR001940  
  • Prosite: PS51323 PS51465 PS50106
  • PDB: 2JOA 2YTW 3NUM 3NWU 3NZI 3TJN 3TJO 3TJQ
  • PDBsum: 2JOA 2YTW 3NUM 3NWU 3NZI 3TJN 3TJO 3TJQ
  • DIP: 33195
  • STRING: ENSP00000357980
• Other Databases: GeneCards:  HTRA1  Malacards:  HTRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	ISS	biological process
GO:0008236	serine-type peptidase activity	ISS	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0005520	insulin-like growth factor binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060718	chorionic trophoblast cell differentiation	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0097187	dentinogenesis	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0050687	negative regulation of defense response to virus	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	KEGG:H01757
Age-related macular degeneration	KEGG:H00821
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	KEGG:H01757
Vitelliform macular dystrophy	PMID:22893068
Patterned macular dystrophy	PMID:22893068
Age related macular degeneration 7	PMID:20157352
Hypertension	PMID:21682878
Age related macular degeneration	PMID:22618592
Kuhnt-Junius degeneration	PMID:18164066
Kuhnt-Junius degeneration	PMID:22800422
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881