SPG7 — SPG7 matrix AAA peptidase subunit, paraplegin
SPG7 belongs to a gene co-expression module in 4 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
SPG7's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | Transcription/RNA processing RNA processing | ANKRD17, BDP1, CCDC97, CDK13, CHIC2, CLK4, CNOT6L, CRNKL1 +29 more | View in SCUBA |
| Endothelial | Vascular Barrier Integrity migration & adhesion | APCDD1, CREB3L2, DYSF, GJA1, GRAMD1A, HDAC1, IGF2R, LAMB1 +11 more | View in SCUBA |
| Innate lymphoid cells | Transcriptional Regulation DNA regulation & transcription | ACAA1, ATRX, C1orf43, CARHSP1, CHTOP, CTDSP1, CTR9, DRAP1 +18 more | View in SCUBA |
| Macrophages | Transcriptional Regulation Housekeeping | AATF, ABHD5, ARID3B, DCP1A, GGNBP2, MIA2, MSI2, NR2C2 +18 more | View in SCUBA |
About the gene
| Synonyms | CAR, CMAR, SPG5C |
|---|---|
| Chromosome | 16: 89490719-89557766 |
| Predicted location | Intracellular, Membrane |
| Essential gene | No |
| Protein class | Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins |
| Molecular function | Hydrolase, Metalloprotease, Protease |
Function
Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development. SPG7 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease exerts a dual role in the mitochondrial inner membrane: it mediates the processing of specific regulatory proteins and ensures protein quality control by degrading misfolded polypeptides (By similarity). Mediates protein maturation of the mitochondrial ribosomal subunit MRPL32/bL32m by catalyzing the cleavage of the presequence of MRPL32/bL32m prior to assembly into the mitochondrial ribosome (By similarity). Acts as a regulator of calcium in neurons by mediating degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Also regulates mitochondrial calcium by catalyzing degradation of MCU. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.