Version: 8.0.0
Date: Tue Jan 28 2025
SPG7
Homo sapiensHGNC:11237
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SPG7

Species
Homo sapiens
Symbol
SPG7
Name
SPG7 matrix AAA peptidase subunit, paraplegin
Synonyms
  • CAR
  • cell matrix adhesion regulator
Biotype
protein coding gene
Automated Description
Enables metalloendopeptidase activity. Involved in mitochondrial outer membrane permeabilization involved in programmed cell death and regulation of calcium import into the mitochondrion. Located in mitochondrion. Part of m-AAA complex and mitochondrial permeability transition pore complex. Is active in mitochondrial inner membrane. Implicated in hereditary spastic paraplegia 7.
RGD Description
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR43655
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
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
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

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

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

            Genome location
            Assembly version
            GRCh38
            Viewer Help
            89.50M89.51M89.52M89.53M89.54M89.55M

            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

            SPG7 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              SPG7 role
              SPG7 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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