NDUFA13
NADH:Ubiquinone Oxidoreductase Subunit A13
Gene Information Card
| Symbol | NDUFA13 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A13 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 51079 ncbi.nlm.nih.gov/gene/51079 |
| Ensembl ID | ENSG00000105657 |
| UniProt ID | Q9P0J0 |
| OMIM ID | 609653 |
| HGNC ID | 7694 |
| Aliases | GRIM-19, B16.6, CI-13KD-A, MC1DN20 |
Description
NDUFA13 (NADH:Ubiquinone Oxidoreductase Subunit A13) encodes a 13 kDa accessory subunit of mitochondrial respiratory chain Complex I (NADH:ubiquinone oxidoreductase). This protein, also known as GRIM-19, is essential for Complex I assembly and stability. It also plays a role in apoptosis regulation and interferon/retinoic acid-induced cell death. Mutations in NDUFA13 cause mitochondrial Complex I deficiency, nuclear type 20 (MC1DN20), and are associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 20 | Loss-of-function mutations impair Complex I assembly and activity, leading to energy metabolism defects | ClinVar, OMIM |
| Leigh syndrome | Biallelic NDUFA13 mutations cause Leigh-like phenotypes with neurodegeneration | OMIM, PubMed |
| Papillary thyroid carcinoma | Somatic mutations and reduced expression of GRIM-19 contribute to tumorigenesis | COSMIC, PubMed |
| Colorectal cancer | Downregulation of NDUFA13/GRIM-19 promotes cell proliferation and metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.8 | High |
| Skeletal muscle | 10.5 | High |
| Liver | 8.2 | Medium |
| Kidney | 7.9 | Medium |
| Brain | 6.1 | Medium |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.5 | High expression |
| HepG2 | 9.8 | Medium expression |
| A549 | 7.3 | Medium expression |
| MCF7 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178C>T (p.Arg60Trp) | Missense | Rare | Loss of Complex I activity; associated with Leigh syndrome |
| c.206G>A (p.Arg69His) | Missense | Rare | Impaired Complex I assembly; MC1DN20 |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe mitochondrial disease |
| c.334_335delAG (p.Arg112Glufs*2) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, frameshift, and start-loss mutations that reduce or abolish NDUFA13 protein expression or Complex I activity.
Gain of Function (GOF)
Not reported for NDUFA13.
Dominant Negative (DN)
Not reported for NDUFA13.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • apoptotic process | • response to interferon-gamma |
| • mitochondrion |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFA13 (GRIM-19) is a 144-amino-acid protein localized to the mitochondrial inner membrane as an accessory subunit of Complex I. It contains a conserved NDUFA13 domain and is required for proper Complex I assembly and electron transfer. Beyond its respiratory function, NDUFA13 participates in apoptosis via interaction with STAT3 and is a target of interferon/retinoic acid-induced cell death. Loss of NDUFA13 leads to mitochondrial dysfunction and is implicated in neurodegenerative disorders and cancer.
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