ATP6
entrez
4508
canonical
uniprot
P00846
canonical
ensembl
ENSG00000198899
resolver
ensp
ENSP00000354632
resolver
enst
ENST00000361899
resolver
genesymbol
ATP6
resolver
genesymbol
MT-ATP6
resolver
genesymbol_syn
ATP6
resolver
genesymbol_syn
ATPASE6
resolver
genesymbol_syn
ATPase6
resolver
genesymbol_syn
MTATP6
resolver
hgnc
HGNC:7414
resolver
uniprot
Q0ZFE3
resolver
uniprot
Q34772
resolver
uniprot
Q5S8W5
resolver
uniprot
Q5S9E7
resolver
uniprot
Q5S9I6
resolver
uniprot
Q5SA31
resolver
uniprot
Q6RPB7
resolver
uniprot
Q6VHC0
resolver
uniprot
Q6VHE0
resolver
uniprot
Q6WQF4
resolver
uniprot
Q7YCC1
resolver
uniprot
Q7YCF8
resolver
uniprot
Q7YCG1
resolver
uniprot
Q85KU8
resolver
uniprot
Q85KX1
resolver
uniprot
Q85L05
resolver
uniprot
Q8HNQ4
resolver
uniprot
Q8HNQ8
resolver
uniprot
Q8WCX6
resolver
uniprot
Q9B2U5
resolver
uniprot
Q9B2Z2
resolver
uniprot_entry
ATP6_HUMAN
resolver
uniprot_entry
Q0ZFE3_HUMAN
resolver
uniprot_sec
Q34772
resolver
uniprot_sec
Q5S8W5
resolver
uniprot_sec
Q5S9E7
resolver
uniprot_sec
Q5S9I6
resolver
uniprot_sec
Q5SA31
resolver
uniprot_sec
Q6RPB7
resolver
uniprot_sec
Q6VHC0
resolver
uniprot_sec
Q6VHE0
resolver
uniprot_sec
Q6WQF4
resolver
uniprot_sec
Q7YCC1
resolver
uniprot_sec
Q7YCF8
resolver
uniprot_sec
Q7YCG1
resolver
uniprot_sec
Q85KU8
resolver
uniprot_sec
Q85KX1
resolver
uniprot_sec
Q85L05
resolver
uniprot_sec
Q8HNQ4
resolver
uniprot_sec
Q8HNQ8
resolver
uniprot_sec
Q8WCX6
resolver
uniprot_sec
Q9B2U5
resolver
uniprot_sec
Q9B2Z2
resolver
amino_acid_sequence
MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT
uniprot
proteins
disease_involvement
DISEASE: Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]: A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. {ECO:0000269|PubMed:2137962}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:7726182}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:17352390, ECO:0000269|PubMed:8395787, ECO:0000269|PubMed:9270604, ECO:0000269|PubMed:9501263, ECO:0000269|PubMed:9556461}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome. {ECO:0000269|PubMed:7668837}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM:500015]: A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO:0000269|PubMed:16049925, ECO:0000269|PubMed:18055910}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011]: A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay. {ECO:0000269|PubMed:25037980}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ataxia and polyneuropathy, adult-onset (APAO) [MIM:500010]: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria. {ECO:0000269|PubMed:16049925, ECO:0000269|PubMed:18055910}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006]: An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:19188198}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). With the subunit c (ATP5MC1), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix (PubMed:37244256). Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanism (PubMed:37244256). {ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
24817
uniprot
proteins
protein_family
ATPase A chain family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
11553319
uniprot
proteins
pubmed
12022039
uniprot
proteins
pubmed
12509511
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12870132
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
14563219
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
15382008
uniprot
proteins
pubmed
15467980
uniprot
proteins
pubmed
15638829
uniprot
proteins
pubmed
16049925
uniprot
proteins
pubmed
17352390
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
18055910
uniprot
proteins
pubmed
19188198
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2137962
uniprot
proteins
pubmed
25037980
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30318146
uniprot
proteins
pubmed
3201231
uniprot
proteins
pubmed
37244256
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
7668837
uniprot
proteins
pubmed
7726182
uniprot
proteins
pubmed
8395787
uniprot
proteins
pubmed
9270604
uniprot
proteins
pubmed
9461455
uniprot
proteins
pubmed
9501263
uniprot
proteins
pubmed
9556461
uniprot
proteins
sequence_length
226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 6..26; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 97..117; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 138..158; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 164..184; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins