ATP5MC3
ATP Synthase Membrane Subunit C Locus 3
Gene Information Card
| Symbol | ATP5MC3 |
|---|---|
| Full Name | ATP synthase membrane subunit c locus 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 518 ncbi.nlm.nih.gov/gene/518 |
| Ensembl ID | ENSG00000115944 |
| UniProt ID | P48201 |
| OMIM ID | 603831 |
| HGNC ID | 840 |
| Aliases | ATP5G3, ATP synthase subunit c, P3 form |
Description
ATP5MC3 encodes a 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. This gene is one of three loci (ATP5MC1, ATP5MC2, ATP5MC3) that produce the membrane subunit c, a key component of the proton channel.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 1 | Loss-of-function mutations in ATP5MC3 impair ATP synthase assembly or activity, reducing ATP production. | ClinVar; OMIM #604273 |
| Leigh syndrome | Biallelic ATP5MC3 variants cause mitochondrial dysfunction and neurodegeneration. | ClinVar; PMID: 29358615 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.1 | High |
| Skeletal muscle | 20.3 | High |
| Liver | 15.7 | Medium |
| Brain | 12.4 | Medium |
| Kidney | 10.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 15.2 | Medium expression |
| K562 | 12.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | Rare | Impaired ATP synthase assembly; associated with complex V deficiency |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; truncation of subunit c |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent subunit c, reducing ATP synthase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial proton-transporting ATP synthase complex (GO:0005753) | • ATP synthesis coupled proton transport (GO:0015986) |
| • rotational mechanism (GO:0046933) |
Pathways
• Oxidative phosphorylation (KEGG:00190)
• Thermogenesis (KEGG:04714)
Protein Summary
ATP5MC3 encodes the membrane subunit c of mitochondrial ATP synthase (complex V). This small hydrophobic protein (141 amino acids) forms part of the proton-conducting channel (Fo domain) and is essential for coupling proton flow to ATP synthesis. The protein is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MC3 Knockout HEK293 Cell Line | EDJ-KQ1913 | Human | 518 | Details Get a Quote |
| ATP5MC3 Knockout A-549 Cell Line | EDJ-KQ23192 | Human | 518 | Details Get a Quote |
| ATP5MC3 Knockout HCT 116 Cell Line | EDJ-KQ23193 | Human | 518 | Details Get a Quote |
| ATP5MC3 Knockout HeLa Cell Line | EDJ-KQ23194 | Human | 518 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
