SPG7 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | SPG7 |
| Official Name | SPG7 matrix AAA peptidase subunit, paraplegin [Source:HGNC Symbol;Acc:HGNC:11237] |
| Ensembl ID | ENSG00000197912 |
| Bio databases IDs | |
| Aliases | SPG7 matrix AAA peptidase subunit, paraplegin, paraplegin |
| Synonyms | AI452278, AU015315, CAR, CMAR, LOC100506268, LOC100507877, PGN, SPG5C, SPG7 matrix AAA peptidase subunit, paraplegin, SPG7, paraplegin matrix AAA peptidase subunit |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SPG7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AAA domain (dynein-related subfamily)
- ATPase family associated with various cellular activities (AAA)
- peptidase
- Peptidase family M41
- protein binding
- ATP-dependent metalloprotease FtsH
- AAA+ lid domain
- FtsH Extracellular
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- metalloendopeptidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- non-insulin-dependent diabetes mellitus
- infection by HIV-1
- cutaneous melanoma
- hereditary disorder
- hereditary spastic paraplegia autosomal recessive 7
- hereditary spastic paraplegia
- melanoma
- melanoma cancer
- scoliosis
role in cell
- degeneration
- expression in
- calcium retention capacity
- adhesion
- abnormal morphology
- organization
- permeability
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- mitochondrial envelope
- Endoplasmic Reticulum
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPG7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterograde axon cargo transport
- proteolysis
- nervous system development
- mitochondrial protein processing
- regulation of mitochondrial membrane permeability
Cellular Component
Where in the cell the gene product is active
- m-AAA complex
- mitochondrial permeability transition pore complex
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- zinc ion binding
- protein binding
- unfolded protein binding
- ATP-dependent peptidase activity
- peptidase activity
- metalloendopeptidase activity