HTRA1

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HTRA1
Protein HTRA1 PDB 2JOA.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHTRA1, ARMD7, CARASIL, HtrA, L56, ORF480, PRSS11, CADASIL2, HtrA serine peptidase 1
External IDsMGI: 1929076 HomoloGene: 31114 GeneCards: HTRA1
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for HTRA1
Genomic location for HTRA1
Band10q26.13Start122,461,525 bp[1]
End122,514,908 bp[1]
RNA expression pattern
PBB GE HTRA1 201185 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002775

NM_019564

RefSeq (protein)

NP_002766

NP_062510

Location (UCSC)Chr 10: 122.46 – 122.51 MbChr 7: 130.94 – 130.99 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[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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". 

External links[edit]

Further reading[edit]