ATP5F1D Gene - ATP Synthase F1 Subunit Delta
Mitochondrial ATP Synthase Complex Subunit
Gene Information Card
| Symbol | ATP5F1D |
|---|---|
| Full Name | ATP synthase F1 subunit delta |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 513 ncbi.nlm.nih.gov/gene/513 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | P30049 |
| OMIM ID | 603828 |
| HGNC ID | 837 |
| Aliases | ATP5D, ATP synthase delta chain, F1-ATPase delta subunit |
Description
ATP5F1D encodes the delta subunit of mitochondrial ATP synthase (Complex V), which catalyzes ATP synthesis from ADP and inorganic phosphate using the proton gradient across the inner mitochondrial membrane. The delta subunit is part of the F1 catalytic core and is essential for coupling proton flow to ATP production.
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 deficiency | ClinVar, OMIM #604273 |
| Leigh syndrome | Defective oxidative phosphorylation due to ATP synthase dysfunction | OMIM #256000 |
| Encephalopathy, progressive, with or without lactic acidosis | Reduced ATP production affects neuronal energy metabolism | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.1 | High |
| Liver | 15.3 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.0 | High expression |
| HEK293 | 29.5 | High expression |
| K562 | 18.2 | Medium expression |
| HepG2 | 21.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Pro82Leu) | Missense | Rare | Reduced ATP synthase activity |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired complex assembly |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish ATP synthase activity, leading to mitochondrial complex V deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP5F1D.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0000275) | • mitochondrion (GO:0005739) |
| • proton transmembrane transporter activity (GO:0015078) | • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
| • ATP biosynthetic process (GO:0006754) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The ATP5F1D protein (delta subunit) is a 168-amino-acid component of the F1 catalytic domain of mitochondrial ATP synthase. It is located in the inner mitochondrial membrane and is required for proper assembly and function of the enzyme complex. The delta subunit interacts with other F1 subunits to form the catalytic headpiece that synthesizes ATP.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5F1D Knockout HEK293 Cell Line | EDJ-KQ12475 | Human | 513 | Details Get a Quote |
| ATP5F1D Knockout HCT 116 Cell Line | EDJ-KQ40144 | Human | 513 | Details Get a Quote |
| ATP5F1D Knockout A-549 Cell Line | EDJ-KQ41427 | Human | 513 | Details Get a Quote |
| ATP5F1D Knockout HeLa Cell Line | EDJ-KQ41428 | Human | 513 | Details Get a Quote |
