MT-ATP6

Protein identityUniProt · HPA

UniProt accession

P00846

Gene

MT-ATP6

Ensembl

ENSG00000198899

Chromosome

MT

Canonical length

226 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

Quaternary structure

Homooctamer

OverviewNCBI Gene

Enables proton channel activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis and proton transmembrane transport. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

226 residues, UniProt reviewed canonical sequence.

>P00846|MT-ATP6
     1  MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI KLTSKQMMTM
    61  HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM NLAMAIPLWA GTVIMGFRSK
   121  IKNALAHFLP QGTPTPLIPM LVIIETISLL IQPMALAVRL TANITAGHLL MHLIGSATLA
   181  MSTINLPSTL IIFTILILLT ILEIAVALIQ AYVFTLLVSL YLHDNT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MT-ATP6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

240,226 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MT-ATP6.

Disease | AllUniProt

Conditions MT-ATP6 is implicated in, by any mechanism.

• Neuropathy, ataxia, and retinitis pigmentosa (NARP) MIM:551500
• Leber hereditary optic neuropathy (LHON) MIM:535000
• Leigh syndrome (LS) MIM:256000
• Mitochondrial infantile bilateral striatal necrosis (MIBSN) MIM:500003
• Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) MIM:500015
• Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) MIM:500011
• Ataxia and polyneuropathy, adult-onset (APAO) MIM:500010
• Cardiomyopathy, infantile hypertrophic (CMHI) MIM:500006

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 293 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial disease
• Leigh syndrome
• NARP syndrome
• Leber optic atrophy
• Primary Mitochondrial Disorders

OntologyGO

Biological processes

• proton motive force-driven ATP synthesis
• proton motive force-driven mitochondrial ATP synthesis
• proton transmembrane transport
• response to hyperoxia

Molecular functions

• proton channel activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• proton-transporting ATP synthase complex

Protein domainsUniProt · Pfam · InterPro

• ATP synthase, F0 complex, subunit A
• ATP synthase, F0 complex, subunit A, active site
• ATP synthase, F0 complex, subunit A superfamily
• ATP synthase, F0 complex, subunit A, bacterial/mitochondria
• ATP synthase A chain

KeywordsUniProt

• ATP synthesis
• Cardiomyopathy
• CF(0)
• Hydrogen ion transport
• Ion transport
• Leber hereditary optic neuropathy
• Leigh syndrome
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neuropathy
• Primary mitochondrial disease
• Retinitis pigmentosa
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of MT-ATP6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAJC30