NDUFB1
NADH:Ubiquinone Oxidoreductase Subunit B1
Gene Information Card
| Symbol | NDUFB1 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase subunit B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 4707 ncbi.nlm.nih.gov/gene/4707 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O75438 |
| OMIM ID | 603838 |
| HGNC ID | 7697 |
| Aliases | CI-B1, CI-B1 subunit, NADH dehydrogenase (ubiquinone) 1 beta subcomplex 1 |
Description
NDUFB1 encodes a subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This accessory subunit is involved in the assembly and stability of the complex, contributing to proton translocation and ATP production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Loss of NDUFB1 impairs complex I assembly and activity, leading to reduced ATP synthesis and increased reactive oxygen species | ClinVar, OMIM |
| Leigh syndrome | Pathogenic variants in NDUFB1 disrupt oxidative phosphorylation, causing neurodegeneration | ClinVar |
| Cardiomyopathy | Complex I dysfunction due to NDUFB1 mutations may contribute to cardiac energy failure | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Skeletal Muscle | 12.8 | Medium |
| Liver | 8.5 | Low |
| Brain | 10.1 | Medium |
| Kidney | 9.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | High expression |
| HEK293 | 13.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, reduced protein expression |
| c.205C>T (p.Arg69Trp) | missense | <0.01% | Impaired complex I assembly |
| c.340G>A (p.Gly114Ser) | missense | <0.01% | Decreased enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and start-loss variants reduce NDUFB1 protein levels and complex I activity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial inner membrane | • oxidation-reduction process |
| • proton transmembrane transport |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFB1 is a 156-amino acid accessory subunit of mitochondrial complex I, localized to the inner mitochondrial membrane. It stabilizes the complex and is essential for efficient electron transfer from NADH to ubiquinone. Mutations cause complex I deficiency and mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFB10 Knockout HEK293 Cell Line | EDJ-KQ4543 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout A-549 Cell Line | EDJ-KQ28399 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout HCT 116 Cell Line | EDJ-KQ28401 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout HeLa Cell Line | EDJ-KQ28402 | Human | 4716 | Details Get a Quote |
| NDUFB1 Knockout HEK293 Cell Line | EDJ-KQ50469 | Human | 4707 | Details Get a Quote |
| NDUFB11 Knockout HEK293 Cell Line | EDJ-KQ51372 | Human | 54539 | Details Get a Quote |
| NDUFB1 Knockout HeLa Cell Line | EDJ-KQ53973 | Human | 4707 | Details Get a Quote |
| NDUFB11 Knockout HeLa Cell Line | EDJ-KQ56433 | Human | 54539 | Details Get a Quote |
| NDUFB1 Knockout A-549 Cell Line | EDJ-KQ62462 | Human | 4707 | Details Get a Quote |
| NDUFB11 Knockout A-549 Cell Line | EDJ-KQ64928 | Human | 54539 | Details Get a Quote |
| NDUFB1 Knockout HCT 116 Cell Line | EDJ-KQ70929 | Human | 4707 | Details Get a Quote |
| NDUFB11 Knockout HCT 116 Cell Line | EDJ-KQ73370 | Human | 54539 | Details Get a Quote |
