ATP5MK: ATP Synthase Membrane Subunit K
A nuclear-encoded component of mitochondrial ATP synthase complex
Gene Information Card
| Symbol | ATP5MK |
|---|---|
| Full Name | ATP synthase membrane subunit K |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.33 |
| NCBI Gene ID | 1727 ncbi.nlm.nih.gov/gene/1727 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9UI30 |
| OMIM ID | 619386 |
| HGNC ID | HGNC:13522 |
| Aliases | ATP5MK, ATP5MD, ATP synthase subunit D, mitochondrial |
Description
ATP5MK encodes a nuclear-encoded 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 protein is a membrane subunit essential for assembly and stability of the ATP synthase complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 7 | Loss-of-function mutations in ATP5MK impair ATP synthase assembly and activity, leading to mitochondrial dysfunction | OMIM #619386, ClinVar |
| Leigh syndrome | Biallelic pathogenic variants in ATP5MK cause mitochondrial encephalopathy with features of Leigh syndrome | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Liver | 22.1 | Medium |
| Brain | 18.5 | Medium |
| Kidney | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.4 | High expression |
| HeLa | 28.1 | High expression |
| K562 | 19.7 | Medium expression |
| HepG2 | 21.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Likely loss of function; disrupts subunit interaction |
Mutation functional classification
Loss of Function (LOF)
Pathogenic variants in ATP5MK cause loss of ATP synthase assembly and activity, leading to mitochondrial complex V deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP5MK.
Dominant Negative (DN)
No dominant-negative mutations reported for ATP5MK.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0000275) | • mitochondrial proton-transporting ATP synthase complex (GO:0005753) |
| • proton transmembrane transporter activity (GO:0015078) | • mitochondrial ATP synthesis coupled proton transport (GO:0042776) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• Reactome: R-HSA-163210 - Formation of ATP by chemiosmotic coupling
Protein Summary
ATP5MK is a 108-amino acid membrane subunit of mitochondrial ATP synthase (Complex V). It is part of the F(o) domain and is required for proper assembly and stability of the enzyme complex. The protein is highly expressed in tissues with high energy demand such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MK Knockout HEK293 Cell Line | EDJ-KQ12478 | Human | 84833 | Details Get a Quote |
| ATP5MK Knockout A-549 Cell Line | EDJ-KQ41429 | Human | 84833 | Details Get a Quote |
| ATP5MK Knockout HCT 116 Cell Line | EDJ-KQ41430 | Human | 84833 | Details Get a Quote |
| ATP5MK Knockout HeLa Cell Line | EDJ-KQ41431 | Human | 84833 | Details Get a Quote |
