NOA1: Nitric Oxide Associated 1, Mitochondrial Dynamics Regulator
A nuclear-encoded mitochondrial protein involved in nitric oxide signaling, mitochondrial translation, and cellular respiration.
Gene Information Card
| Symbol | NOA1 |
|---|---|
| Full Name | Nitric Oxide Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 84273 ncbi.nlm.nih.gov/gene/84273 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q8NC60 |
| OMIM ID | 617567 |
| HGNC ID | 25907 |
| Aliases | C4orf14, MTG3, m-AAA protease homolog, NOA1 |
Description
NOA1 (Nitric Oxide Associated 1) is a nuclear-encoded mitochondrial protein that belongs to the circularly permuted GTPase family. It localizes to the mitochondrial matrix and is essential for mitochondrial translation, ribosome assembly, and respiratory complex biogenesis. NOA1 also modulates nitric oxide (NO) signaling by interacting with endothelial nitric oxide synthase (eNOS) and regulating mitochondrial dynamics. Loss of NOA1 function leads to impaired oxidative phosphorylation, mitochondrial fragmentation, and increased reactive oxygen species (ROS) production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (COXPD) | Loss-of-function mutations in NOA1 impair mitochondrial translation, leading to reduced activity of respiratory chain complexes I, III, IV, and V. | ClinVar; OMIM #617567 |
| Mitochondrial encephalopathy | NOA1 deficiency disrupts mitochondrial protein synthesis, causing neuronal energy failure and neurodegeneration. | OMIM; PubMed studies |
| Cardiomyopathy | NOA1 mutations affect mitochondrial ATP production in cardiac muscle, leading to hypertrophic or dilated cardiomyopathy. | ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells; high expression |
| HeLa | 11.5 | Cervical cancer cells; moderate expression |
| HepG2 | 9.8 | Hepatocellular carcinoma; moderate expression |
| K562 | 7.3 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Premature stop codon; loss of protein function; associated with COXPD |
| c.845G>A (p.Arg282Gln) | Missense | Rare | Impaired GTPase activity; reduced mitochondrial translation |
| c.1123A>G (p.Thr375Ala) | Missense | Rare | Decreased protein stability; mitochondrial fragmentation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg148*) lead to truncated, non-functional NOA1 protein, causing combined oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NOA1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; NOA1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial translation (REACT_1005)
• Respiratory electron transport (REACT_1006)
• Oxidative phosphorylation (KEGG:00190)
Protein Summary
NOA1 is a 73 kDa mitochondrial GTPase composed of an N-terminal mitochondrial targeting sequence, a central GTP-binding domain, and a C-terminal domain involved in ribosome association. It binds GTP and exhibits intrinsic GTPase activity essential for mitochondrial ribosome assembly and translation. NOA1 interacts with the mitochondrial ribosome large subunit (mtLSU) and is required for the synthesis of mtDNA-encoded oxidative phosphorylation subunits. The protein also associates with eNOS, modulating NO production and mitochondrial dynamics. Structural studies reveal a circularly permuted GTPase fold similar to that of bacterial YqeH and human MTG1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOA1 Knockout HEK293 Cell Line | EDJ-KQ10046 | Human | 84273 | Details Get a Quote |
| NOA1 Knockout A-549 Cell Line | EDJ-KQ37066 | Human | 84273 | Details Get a Quote |
| NOA1 Knockout HCT 116 Cell Line | EDJ-KQ37067 | Human | 84273 | Details Get a Quote |
| NOA1 Knockout HeLa Cell Line | EDJ-KQ37068 | Human | 84273 | Details Get a Quote |
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