Version: 8.0.0
Date: Tue Jan 28 2025
Pcsk5
Mus musculusMGI:97515
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Pcsk5

Species
Mus musculus
Symbol
Pcsk5
Name
proprotein convertase subtilisin/kexin type 5
Synonyms
  • b2b1549Clo
  • b2b585Clo
Biotype
protein coding gene
Automated Description
Enables peptide binding activity and serine-type endopeptidase activity. Involved in several processes, including embryo implantation; embryonic digestive tract development; and signaling receptor ligand precursor processing. Acts upstream of or within cardiac septum development; coronary vasculature development; and determination of left/right symmetry. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and sensory organ. Used to study VACTERL association; primary ciliary dyskinesia; and visceral heterotaxy. Orthologous to human PCSK5 (proprotein convertase subtilisin/kexin type 5).
MGI Description
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR42884
No data available
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
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
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      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
            GRCm39
            Viewer Help
            17.45M17.50M17.55M17.60M17.65M17.70M17.75M17.80M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Pcsk5 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Pcsk5 role
              Pcsk5 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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