ATP5F1B
ATP synthase F1 subunit beta
Gene Information Card
| Symbol | ATP5F1B |
|---|---|
| Full Name | ATP synthase F1 subunit beta |
| Gene Type | protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 506 ncbi.nlm.nih.gov/gene/506 |
| Ensembl ID | ENSG00000110955 |
| UniProt ID | P06576 |
| OMIM ID | 102910 |
| HGNC ID | 830 |
| Aliases | ATP5B, ATPMB, ATPSB, HEL-S-271m, MGC3279, MGC5239 |
Description
ATP5F1B encodes the beta subunit of the mitochondrial ATP synthase (Complex V), which catalyzes ATP synthesis from ADP and inorganic phosphate using the proton gradient across the inner mitochondrial membrane. This subunit contains the catalytic site for ATP production. Mutations in ATP5F1B are associated with mitochondrial complex V deficiency and various metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 1 | Loss-of-function mutations impair ATP synthesis, leading to energy depletion | OMIM #604273; ClinVar |
| Leigh syndrome | Defective oxidative phosphorylation due to ATP synthase dysfunction | Case reports; PubMed |
| Cardiomyopathy, hypertrophic | Reduced ATP production affects cardiac muscle energetics | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 26.3 | High |
| Liver | 22.1 | High |
| Kidney | 20.8 | High |
| Brain | 18.4 | Medium |
| Lung | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | High expression |
| HEK293 | 30.5 | High expression |
| K562 | 25.3 | High expression |
| HepG2 | 24.7 | High 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 activity; associated with mitochondrial complex V deficiency |
| c.535C>T (p.Arg179Trp) | Missense | Rare | Impaired catalytic function; reported in Leigh syndrome |
| c.788A>G (p.Asn263Ser) | Missense | Rare | Decreased ATP production; linked to cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg82Gln, p.Arg179Trp) reduce or abolish ATP synthase catalytic activity, leading to mitochondrial complex V deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP5F1B.
Dominant Negative (DN)
No dominant-negative mutations reported; most pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • proton-transporting ATP synthase activity | • rotational mechanism |
| • mitochondrial proton-transporting ATP synthase complex | • mitochondrial inner membrane |
| • ATP biosynthetic process | • oxidative phosphorylation |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Metabolic pathways (KEGG: hsa01100)
• ATP synthesis (Reactome: R-HSA-163210)
Protein Summary
ATP5F1B encodes the beta subunit of mitochondrial ATP synthase (Complex V), a key enzyme in oxidative phosphorylation. The beta subunit contains the catalytic nucleotide-binding domain where ATP is synthesized. The protein is localized to the mitochondrial inner membrane and is essential for cellular energy production. Pathogenic variants lead to mitochondrial complex V deficiency, manifesting as multisystem disorders including Leigh syndrome, cardiomyopathy, and metabolic acidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5F1B Knockout HEK293 Cell Line | EDJ-KQ12473 | Human | 506 | Details Get a Quote |
| ATP5F1B Knockout A-549 Cell Line | EDJ-KQ40137 | Human | 506 | Details Get a Quote |
| ATP5F1B Knockout HCT 116 Cell Line | EDJ-KQ41422 | Human | 506 | Details Get a Quote |
| ATP5F1B Knockout HeLa Cell Line | EDJ-KQ41423 | Human | 506 | Details Get a Quote |
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