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
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
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

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. GRCh38: Ensembl release 89: ENSG00000166033 - Ensembl, May 2017
  2. 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. S2CID 39934612.
  6. "Entrez Gene: HTRA1 HtrA serine peptidase 1".

Further reading

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