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Gene id

5654

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (122461524: 122514907) 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 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]

OMIM

602194

SNPs

rs2250804

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.122505362T>C
NC_000010.10   g.124264878T>C
NC_000010.11   g.122505362T>C
NG_011554.1   g.48838T>C
NM_002775.4   c.778-1329T>C
rs2253755

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000672.2   g.122482041A>G
CM000672.2   g.122482041A>T
NC_000010.10   g.124241557A>G
NC_000010.11   g.122482041A>G
NC_000010.11   g.122482041A>T
NG_011554.1   g.25517A>G
NG_011554.1   g.25517A>T
NM_002775.4   c.473-6861A>G
NM_002775.4   c.473-6861A>T

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: 51,287

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	IGFBP (33-100) Kazal-like. (98-157) PDZ. (365-467)
Interpro:	IPR009030 IPR000867 IPR002350 IPR001478 IPR009003 IPR001940
Prosite:	PS51323 PS51465 PS50106
Pfam:	PF00219 PF07648 PF00595
PDB:	2JOA 2YTW 3NUM 3NWU 3NZI 3TJN 3TJO 3TJQ
PDBsum:	2JOA 2YTW 3NUM 3NWU 3NZI 3TJN 3TJO 3TJQ
DIP:	33195
MINT:	1198897
STRING:	ENSP00000357980;

Other Databases

GeneCards: HTRA1; Malacards: HTRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001558	regulation of cell growth	IEA	biological_process
GO:0001890	placenta development	IEA	biological_process
GO:0004252	serine-type endopeptidase activity	EXP	molecular_function
GO:0005520	insulin-like growth facto r binding	IEA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006508	proteolysis	ISS	biological_process
GO:0008236	serine-type peptidase act ivity	ISS	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030512	negative regulation of tr ansforming growth factor beta receptor signaling p athway	IEA	biological_process
GO:0030514	negative regulation of BM P signaling pathway	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0050687	negative regulation of de fense response to virus	IEA	biological_process
GO:0060718	chorionic trophoblast cel l differentiation	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0097187	dentinogenesis	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0001558	regulation of cell growth	IEA	biological_process
GO:0001890	placenta development	IEA	biological_process
GO:0004252	serine-type endopeptidase activity	IEA	molecular_function
GO:0004252	serine-type endopeptidase activity	EXP	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005520	insulin-like growth facto r binding	IEA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	ISS	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008236	serine-type peptidase act ivity	IEA	molecular_function
GO:0008236	serine-type peptidase act ivity	ISS	molecular_function
GO:0008236	serine-type peptidase act ivity	IEA	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0019838	growth factor binding	IEA	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030512	negative regulation of tr ansforming growth factor beta receptor signaling p athway	IEA	biological_process
GO:0030514	negative regulation of BM P signaling pathway	IEA	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0050687	negative regulation of de fense response to virus	IEA	biological_process
GO:0060718	chorionic trophoblast cel l differentiation	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0097187	dentinogenesis	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0004252	serine-type endopeptidase activity	EXP	molecular_function
GO:0004252	serine-type endopeptidase activity	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006508	proteolysis	ISS	biological_process
GO:0008236	serine-type peptidase act ivity	ISS	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15917099
Angiomatosis	PMID: 18362109
CARASIL syndrome	OMIM: 602194
Cerebral arteriopathy	KEGG: H01757, OMIM: 602194
Choroid Diseases	PMID: 18515590
Endometriosis	PMID: 20940247
Macular degeneration	KEGG: H00821, OMIM: 602194
Endometriosis	INFBASE26708185
Spinal disc degeneration	PMID: 19798546

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26708185	Endometrio sis			33 (13 women wi th ovarian endo metriosis (case s), 10 eutopic endometria, 10 women with non endometriotic d iseases (contro ls))		HtrA1 TGFb1 pSmad and Ki67	Show abstract
20940247	Endometrio sis					HTRA1 LOXL1	Show abstract