ATP5PB: ATP Synthase Peripheral Stalk Subunit b
Mitochondrial Complex V Component and Oxidative Phosphorylation Regulator
Gene Information Card
| Symbol | ATP5PB |
|---|---|
| Full Name | ATP synthase peripheral stalk-membrane subunit b |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 515 ncbi.nlm.nih.gov/gene/515 |
| Ensembl ID | ENSG00000116133 |
| UniProt ID | P24539 |
| OMIM ID | 603270 |
| HGNC ID | 840 |
| Aliases | ATP5F1, ATP5B, ATP synthase subunit b |
Description
ATP5PB encodes subunit b of the peripheral stalk of mitochondrial ATP synthase (Complex V), which is essential for coupling proton flow to ATP synthesis. The protein anchors the catalytic F1 domain to the membrane-embedded Fo domain and is required for proper assembly and stability of the complex. Mutations in ATP5PB are associated with mitochondrial complex V deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 1 | Loss-of-function mutations impair ATP synthase assembly and activity, leading to reduced ATP production | PMID: 25378536 |
| Leigh syndrome | Defective oxidative phosphorylation due to ATP synthase dysfunction causes neurodegeneration | PMID: 25378536 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 24.5 | High |
| Skeletal muscle | 18.2 | High |
| Liver | 12.1 | Medium |
| Brain | 10.8 | Medium |
| Kidney | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | High expression |
| HEK293 | 19.7 | High expression |
| HepG2 | 15.4 | Medium expression |
| K562 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Reduced ATP synthase assembly and activity |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function due to premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair ATP synthase assembly and catalytic activity, leading to mitochondrial complex V 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)
| • Mitochondrial proton-transporting ATP synthase complex | • ATP synthesis coupled proton transport |
| • Mitochondrial inner membrane | • Proton-transporting ATP synthase activity |
| • rotational mechanism |
Pathways
• Oxidative phosphorylation
• Thermogenesis
• Metabolic pathways
Protein Summary
ATP5PB encodes subunit b of the peripheral stalk of mitochondrial ATP synthase (Complex V). This protein is essential for coupling proton flow across the inner mitochondrial membrane to ATP synthesis. It anchors the catalytic F1 domain to the membrane Fo domain and is required for proper assembly and stability of the complex. Mutations cause mitochondrial complex V deficiency and Leigh syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5PB Knockout HEK293 Cell Line | EDJ-KQ12479 | Human | 515 | Details Get a Quote |
| ATP5PB Knockout HeLa Cell Line | EDJ-KQ40150 | Human | 515 | Details Get a Quote |
| ATP5PB Knockout A-549 Cell Line | EDJ-KQ41432 | Human | 515 | Details Get a Quote |
| ATP5PB Knockout HCT 116 Cell Line | EDJ-KQ41433 | Human | 515 | Details Get a Quote |
