ATP5MC1
ATP Synthase Membrane Subunit C Locus 1
Gene Information Card
| Symbol | ATP5MC1 |
|---|---|
| Full Name | ATP synthase membrane subunit c locus 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 516 ncbi.nlm.nih.gov/gene/516 |
| Ensembl ID | ENSG00000159199 |
| UniProt ID | P05496 |
| OMIM ID | 603192 |
| HGNC ID | 835 |
| Aliases | ATP5G1, ATP5A, ATP5G |
Description
ATP5MC1 encodes subunit c of the mitochondrial ATP synthase (complex V), which is essential for ATP production via oxidative phosphorylation. Subunit c forms part of the proton channel and is involved in the rotation mechanism that drives ATP synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type 1 | Loss-of-function mutations in ATP5MC1 impair ATP synthase assembly and activity, leading to reduced ATP production. | PMID: 25341735, ClinVar |
| Leigh syndrome | Biallelic variants in ATP5MC1 have been associated with Leigh syndrome, a severe neurodegenerative disorder. | PMID: 25341735, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | High |
| Liver | 18.3 | Medium |
| Brain | 15.2 | Medium |
| Skeletal muscle | 22.1 | High |
| Kidney | 14.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.5 | Ubiquitous expression |
| HEK293 | 18.9 | Ubiquitous expression |
| K562 | 15.3 | Ubiquitous 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 and activity (PMID: 25341735) |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function, associated with complex V deficiency (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt ATP synthase assembly or catalytic 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 | • Proton transmembrane transporter activity |
| • ATP synthesis coupled proton transport | • Mitochondrial inner membrane |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• ATP synthesis (Reactome: R-HSA-163210)
Protein Summary
ATP5MC1 encodes subunit c of mitochondrial ATP synthase, a key component of the proton channel. This small hydrophobic protein (76 amino acids) is essential for the rotary mechanism of ATP synthesis. Mutations in ATP5MC1 cause mitochondrial complex V deficiency, leading to severe neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MC1 Knockout HEK293 Cell Line | EDJ-KQ50141 | Human | 516 | Details Get a Quote |
| ATP5MC1 Knockout HeLa Cell Line | EDJ-KQ52690 | Human | 516 | Details Get a Quote |
| ATP5MC1 Knockout A-549 Cell Line | EDJ-KQ61161 | Human | 516 | Details Get a Quote |
| ATP5MC1 Knockout HCT 116 Cell Line | EDJ-KQ69649 | Human | 516 | Details Get a Quote |
