Version: 8.0.0
Date: Tue Jan 28 2025
SERPINF1
Homo sapiensHGNC:8824
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SERPINF1

Species
Homo sapiens
Symbol
SERPINF1
Name
serpin family F member 1
Synonyms
  • alpha-2 antiplasmin
  • cell proliferation-inducing gene 35 protein
Biotype
protein coding gene
Automated Description
Predicted to enable serine-type endopeptidase inhibitor activity. Involved in negative regulation of angiogenesis and positive regulation of neurogenesis. Located in extracellular region. Implicated in several diseases, including bone disease (multiple); brain edema; eye disease (multiple); leukostasis; and metabolic dysfunction-associated steatohepatitis. Biomarker of several diseases, including anogenital venereal wart; diabetes mellitus (multiple); liver disease (multiple); neurodegenerative disease (multiple); and retinal disease (multiple).
RGD Description
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11461
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

          SERPINF1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SERPINF1 role
            SERPINF1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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