NUBPL: Nucleotide-Binding Protein-Like, Mitochondrial Complex I Assembly Factor
Essential for mitochondrial complex I assembly and function; mutations cause mitochondrial encephalopathy and leukodystrophy.
Gene Information Card
| Symbol | NUBPL |
|---|---|
| Full Name | Nucleotide Binding Protein Like |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 80224 ncbi.nlm.nih.gov/gene/80224 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8TB37 |
| OMIM ID | 613621 |
| HGNC ID | 20278 |
| Aliases | IND1, HUMMR, C14orf127 |
Description
NUBPL encodes a mitochondrial protein involved in the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It functions as an iron-sulfur cluster chaperone, facilitating the insertion of Fe-S clusters into complex I subunits. Mutations in NUBPL cause mitochondrial complex I deficiency, leading to early-onset leukoencephalopathy and mitochondrial encephalopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) | Loss-of-function mutations impair complex I assembly, reducing ATP production and increasing oxidative stress. | OMIM #618242; ClinVar |
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | NUBPL mutations disrupt mitochondrial function in oligodendrocytes, causing white matter degeneration. | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Heart | 4.8 | Medium |
| Liver | 3.1 | Low |
| Skeletal Muscle | 6.7 | Medium |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.8 | Moderate expression |
| SH-SY5Y | 6.1 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.166G>A (p.Gly56Arg) | Missense | Rare | Reduced protein stability and complex I assembly |
| c.815_816del (p.Leu272Profs*19) | Frameshift | Rare | Loss of function, premature truncation |
| c.182G>A (p.Trp61*) | Nonsense | Rare | Nonsense-mediated decay, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most NUBPL mutations are loss-of-function, leading to complex I deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NUBPL is a 319-amino acid mitochondrial protein that belongs to the Mrp/NBP35 ATP-binding protein family. It contains a conserved nucleotide-binding domain and is essential for the maturation of mitochondrial complex I by delivering iron-sulfur clusters to its subunits. The protein localizes to the mitochondrial matrix and interacts with other complex I assembly factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUBPL Knockout HEK293 Cell Line | EDJ-KQ8733 | Human | 80224 | Details Get a Quote |
| NUBPL Knockout A-549 Cell Line | EDJ-KQ36225 | Human | 80224 | Details Get a Quote |
| NUBPL Knockout HCT 116 Cell Line | EDJ-KQ36227 | Human | 80224 | Details Get a Quote |
| NUBPL Knockout HeLa Cell Line | EDJ-KQ36228 | Human | 80224 | Details Get a Quote |
