AFG3L2 — AFG3 like matrix AAA peptidase subunit 2
AFG3L2 belongs to a gene co-expression module in 1 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.
AFG3L2's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Gamma-delta T cells | RNA Surveillance/NMD RNA processing & translation | ANKRD13A, ARPP19, BRD10, C5orf24, DNM1L, ERVK3-1, KCTD20, NR2C2 +8 more |
About the gene
| Synonyms | SCA28, SPAX5 |
|---|---|
| Chromosome | 18: 12328944-12377227 |
| Predicted location | Membrane |
| Essential gene | Yes |
| Protein class | Disease related genes, Enzymes, Essential proteins, Human disease related genes, Plasma proteins, Potential drug targets, 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. AFG3L2 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. The m-AAA protease carries out quality control in the inner membrane of the mitochondria by mediating degradation of mistranslated or misfolded polypeptides. The m-AAA protease complex also promotes the processing and maturation of mitochondrial proteins, such as MRPL32/bL32m, PINK1 and SP7. 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. Required for SPG7 maturation into its active mature form after SPG7 cleavage by mitochondrial-processing peptidase (MPP). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial- processing peptidase (MPP). 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. Promotes the proteolytic degradation of GHITM upon hyperpolarization of mitochondria: progressive GHITM degradation leads to respiratory complex I degradation and broad reshaping of the mitochondrial proteome by AFG3L2. Also acts as a regulator of mitochondrial glutathione homeostasis by mediating cleavage and degradation of SLC25A39. SLC25A39 cleavage is prevented when SLC25A39 binds iron-sulfur. Involved in the regulation of OMA1-dependent processing of OPA1. May act by mediating processing of OMA1 precursor, participating in OMA1 maturation.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.