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'''Serine protease HTRA1''' is an [[enzyme]] that in humans is encoded by the ''HTRA1'' [[gene]].<ref name="pmid8977104">{{cite journal |vauthors=Zumbrunn J, Trueb B | title = Primary structure of a putative serine protease specific for IGF-binding proteins | journal = FEBS Lett | volume = 398 | issue = 2–3 | pages = 187–92 |date=Jan 1997 | pmid = 8977104 | pmc = | doi =10.1016/S0014-5793(96)01229-X }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HTRA1 HtrA serine peptidase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5654| accessdate = }}</ref> The HTRA1 protein is composed of four distinct [[protein domain]]s. 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]].
'''Serine protease HTRA1''' is an [[enzyme]] that in humans is encoded by the ''HTRA1'' [[gene]].<ref name="pmid8977104">{{cite journal |vauthors=Zumbrunn J, Trueb B | title = Primary structure of a putative serine protease specific for IGF-binding proteins | journal = FEBS Lett | volume = 398 | issue = 2–3 | pages = 187–92 |date=Jan 1997 | pmid = 8977104 | pmc = | doi =10.1016/S0014-5793(96)01229-X }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HTRA1 HtrA serine peptidase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5654| accessdate = }}</ref> The HTRA1 protein is composed of four distinct [[protein domain]]s. 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]].


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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.<ref name="entrez"/>
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| summary_text = 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.<ref name="entrez"/>
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Mutations of this gene are responsible for the development of [[CARASIL]], a genetic form of cerebral vasculopathy.
Mutations of this gene are responsible for the development of [[CARASIL]], a genetic form of cerebral vasculopathy.
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*{{cite journal |vauthors=Dewan A, Liu M, Hartman S, etal |title=HTRA1 promoter polymorphism in wet age-related macular degeneration |journal=Science |volume=314 |issue= 5801 |pages= 989–92 |year= 2006 |pmid= 17053108 |doi= 10.1126/science.1133807 }}
*{{cite journal |vauthors=Dewan A, Liu M, Hartman S, etal |title=HTRA1 promoter polymorphism in wet age-related macular degeneration |journal=Science |volume=314 |issue= 5801 |pages= 989–92 |year= 2006 |pmid= 17053108 |doi= 10.1126/science.1133807 }}
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{{gene-10-stub}}
{{gene-10-stub}}

Revision as of 10:41, 26 March 2019

HTRA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHTRA1, ARMD7, CARASIL, HtrA, L56, ORF480, PRSS11, CADASIL2, HtrA serine peptidase 1
External IDsOMIM: 602194; MGI: 1929076; HomoloGene: 31114; GeneCards: HTRA1; OMA:HTRA1 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 7: 130.54 – 130.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166033 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006205 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Zumbrunn J, Trueb B (Jan 1997). "Primary structure of a putative serine protease specific for IGF-binding proteins". FEBS Lett. 398 (2–3): 187–92. doi:10.1016/S0014-5793(96)01229-X. PMID 8977104.
  6. ^ a b "Entrez Gene: HTRA1 HtrA serine peptidase 1".

Further reading

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