OMA1
OMA1 Zinc Metallopeptidase
Gene Information Card
| Symbol | OMA1 |
|---|---|
| Full Name | OMA1 zinc metallopeptidase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.2 |
| NCBI Gene ID | 115209 ncbi.nlm.nih.gov/gene/115209 |
| Ensembl ID | ENSG00000162600 |
| UniProt ID | Q96E52 |
| OMIM ID | 614847 |
| HGNC ID | 24966 |
| Aliases | YME1L2, MPRP-1, OMA1L |
Description
OMA1 encodes a zinc metallopeptidase localized to the inner mitochondrial membrane. It functions in mitochondrial quality control by cleaving OPA1, regulating cristae remodeling and apoptosis. OMA1 is also involved in the mitochondrial unfolded protein response (UPRmt) and is activated under stress conditions such as loss of membrane potential or accumulation of misfolded proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | OMA1 overexpression promotes tumor growth by enhancing mitochondrial fragmentation and resistance to apoptosis. | PMID: 31073079 |
| Parkinson's disease | OMA1-mediated OPA1 cleavage contributes to mitochondrial dysfunction and dopaminergic neuron loss. | PMID: 30929742 |
| Obesity and insulin resistance | OMA1 deletion in mice protects against diet-induced obesity and improves insulin sensitivity via altered mitochondrial dynamics. | PMID: 31672913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 6.2 | Medium |
| Heart | 5.8 | Medium |
| Skeletal muscle | 4.9 | Low |
| Brain | 3.1 | Low |
| Kidney | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.1 | High expression |
| HEK293 | 6.5 | Medium expression |
| HepG2 | 7.0 | Medium expression |
| SH-SY5Y | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown; predicted damaging |
| c.1462C>T (p.Arg488Trp) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg350*) lead to premature truncation and loss of proteolytic activity.
Gain of Function (GOF)
Not reported in OMA1.
Dominant Negative (DN)
Not reported in OMA1.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • mitochondrion (GO:0005739) |
| • mitochondrial inner membrane (GO:0005743) | • mitochondrion organization (GO:0007005) |
| • positive regulation of apoptotic process (GO:0043065) | • mitochondrial unfolded protein response (GO:0034970) |
Pathways
• Mitochondrial dynamics (OPA1 processing)
• Mitochondrial unfolded protein response (UPRmt)
Protein Summary
OMA1 is a 524-amino acid zinc metallopeptidase anchored in the inner mitochondrial membrane. It contains a conserved HExxH zinc-binding motif essential for proteolytic activity. Under stress, OMA1 cleaves OPA1, leading to mitochondrial fragmentation and cristae remodeling, which facilitates apoptosis. OMA1 also participates in the UPRmt by cleaving DELE1 to activate the integrated stress response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OMA1 Knockout HEK293 Cell Line | EDJ-KQ7510 | Human | 115209 | Details Get a Quote |
| OMA1 Knockout A-549 Cell Line | EDJ-KQ32780 | Human | 115209 | Details Get a Quote |
| OMA1 Knockout HCT 116 Cell Line | EDJ-KQ32781 | Human | 115209 | Details Get a Quote |
| OMA1 Knockout HeLa Cell Line | EDJ-KQ32782 | Human | 115209 | Details Get a Quote |
