Version: 8.0.0
Date: Tue Jan 28 2025
HTRA1
Homo sapiensHGNC:9476
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

HTRA1

Species
Homo sapiens
Symbol
HTRA1
Name
HtrA serine peptidase 1
Synonyms
  • ARMD7
  • CADASIL2
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity and molecular function activator activity. Predicted to be involved in positive regulation of apoptotic process; programmed cell death; and proteolysis. Predicted to act upstream of or within chorionic trophoblast cell differentiation; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and placenta development. Located in plasma membrane. Implicated in CADASIL (multiple); gastrointestinal system cancer (multiple); hypertension; lung adenocarcinoma; and macular degeneration (multiple). Biomarker of diabetes mellitus; gastrointestinal system cancer (multiple); lung non-small cell carcinoma; malignant mesothelioma; and ulcerative colitis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22939
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          HTRA1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            HTRA1 role
            HTRA1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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