Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

ATP synthase subunit a (F-ATPase protein 6)

 ATP6_HUMAN              Reviewed;         226 AA.
P00846; Q34772; Q5S8W5; Q5S9E7; Q5S9I6; Q5SA31; Q6RPB7; Q6VHC0;
Q6VHE0; Q6WQF4; Q7YCC1; Q7YCF8; Q7YCG1; Q85KU8; Q85KX1; Q85L05;
Q8HNQ4; Q8HNQ8; Q8WCX6; Q9B2U5; Q9B2Z2;
21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
21-JUL-1986, sequence version 1.
23-MAY-2018, entry version 182.
RecName: Full=ATP synthase subunit a;
AltName: Full=F-ATPase protein 6;
Name=MT-ATP6; Synonyms=ATP6, ATPASE6, MTATP6;
Homo sapiens (Human).
Mitochondrion.
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=7219534; DOI=10.1038/290457a0;
Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L.,
Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A.,
Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G.;
"Sequence and organization of the human mitochondrial genome.";
Nature 290:457-465(1981).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-14.
TISSUE=Placenta;
PubMed=7530363; DOI=10.1073/pnas.92.2.532;
Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.;
"Recent African origin of modern humans revealed by complete sequences
of hominoid mitochondrial DNAs.";
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS TYR-90; ALA-112 AND
LEU-193.
PubMed=11130070; DOI=10.1038/35047064;
Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.;
"Mitochondrial genome variation and the origin of modern humans.";
Nature 408:708-713(2000).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS TYR-90; ALA-112 AND
THR-204.
PubMed=11553319; DOI=10.1186/1471-2156-2-13;
Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.;
"Major genomic mitochondrial lineages delineate early human
expansions.";
BMC Genet. 2:13-13(2001).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-80; TYR-90 AND
ALA-112.
PubMed=12022039; DOI=10.1086/341358;
Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K.,
Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L.,
Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V.,
Santos S.E., Zago M.A.;
"Mitochondrial genome diversity of native Americans supports a single
early entry of founder populations into America.";
Am. J. Hum. Genet. 71:187-192(2002).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-14 AND ALA-112.
PubMed=14563219; DOI=10.1186/1471-2156-4-15;
Maca-Meyer N., Gonzalez A.M., Pestano J., Flores C., Larruga J.M.,
Cabrera V.M.;
"Mitochondrial DNA transit between West Asia and North Africa inferred
from U6 phylogeography.";
BMC Genet. 4:15-15(2003).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-112 AND LEU-193.
PubMed=12840039; DOI=10.1101/gr.686603;
Ingman M., Gyllensten U.;
"Mitochondrial genome variation and evolutionary history of Australian
and New Guinean aborigines.";
Genome Res. 13:1600-1606(2003).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-11; THR-60;
ALA-112 AND ALA-133.
PubMed=12949126; DOI=10.1093/molbev/msg230;
Moilanen J.S., Finnila S., Majamaa K.;
"Lineage-specific selection in human mtDNA: lack of polymorphisms in a
segment of MTND5 gene in haplogroup J.";
Mol. Biol. Evol. 20:2132-2142(2003).
[9]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-60; TYR-90;
ALA-112; LEU-117 AND THR-192.
PubMed=12509511; DOI=10.1073/pnas.0136972100;
Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G.,
Hosseini S., Brandon M., Easley K., Chen E., Brown M.D.,
Sukernik R.I., Olckers A., Wallace D.C.;
"Natural selection shaped regional mtDNA variation in humans.";
Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003).
[10]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-16; PRO-37;
TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204.
PubMed=12870132; DOI=10.1086/377718;
Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., Zhang Y.-P.;
"Phylogeny of east Asian mitochondrial DNA lineages inferred from
complete sequences.";
Am. J. Hum. Genet. 73:671-676(2003).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-11 AND ALA-112.
PubMed=15382008; DOI=10.1086/425590;
Achilli A., Rengo C., Magri C., Battaglia V., Olivieri A.,
Scozzari R., Cruciani F., Zeviani M., Briem E., Carelli V., Moral P.,
Dugoujon J.M., Roostalu U., Loogvali E.L., Kivisild T., Bandelt H.-J.,
Richards M., Villems R., Santachiara-Benerecetti A.S., Semino O.,
Torroni A.;
"The molecular dissection of mtDNA haplogroup H confirms that the
Franco-Cantabrian glacial refuge was a major source for the European
gene pool.";
Am. J. Hum. Genet. 75:910-918(2004).
[12]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-7; THR-11; ILE-53;
THR-60; ALA-112; VAL-121 AND ILE-213.
PubMed=15467980; DOI=10.1086/425871;
Palanichamy M.G., Sun C., Agrawal S., Bandelt H.-J., Kong Q.-P.,
Khan F., Wang C.Y., Chaudhuri T.K., Palla V., Zhang Y.-P.;
"Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on
complete sequencing: implications for the peopling of South Asia.";
Am. J. Hum. Genet. 75:966-978(2004).
[13]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-11; THR-60;
ALA-112 AND VAL-192.
PubMed=14760490; DOI=10.1007/s00414-004-0427-6;
Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T.,
Irwin J.A., Parsons T.J.;
"Single nucleotide polymorphisms over the entire mtDNA genome that
increase the power of forensic testing in Caucasians.";
Int. J. Legal Med. 118:137-146(2004).
[14]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS TYR-90 AND ALA-112.
PubMed=15638829; DOI=10.1046/j.1529-8817.2003.00127.x;
Starikovskaya E.B., Sukernik R.I., Derbeneva O.A., Volodko N.V.,
Ruiz-Pesini E., Torroni A., Brown M.D., Lott M.T., Hosseini S.H.,
Huoponen K., Wallace D.C.;
"Mitochondrial DNA diversity in indigenous populations of the southern
extent of Siberia, and the origins of native american haplogroups.";
Ann. Hum. Genet. 69:67-89(2005).
[15]
INVOLVEMENT IN LS, AND VARIANT LS PRO-220.
PubMed=17352390; DOI=10.1002/ajmg.a.31637;
Castagna A.E., Addis J., McInnes R.R., Clarke J.T., Ashby P.,
Blaser S., Robinson B.H.;
"Late onset Leigh syndrome and ataxia due to a T to C mutation at bp
9,185 of mitochondrial DNA.";
Am. J. Med. Genet. A 143A:808-816(2007).
[16]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[17]
INVOLVEMENT IN MLASA3, AND VARIANT MLASA3 ASN-148.
PubMed=25037980; DOI=10.1016/j.ymgme.2014.06.004;
Burrage L.C., Tang S., Wang J., Donti T.R., Walkiewicz M.,
Luchak J.M., Chen L.C., Schmitt E.S., Niu Z., Erana R., Hunter J.V.,
Graham B.H., Wong L.J., Scaglia F.;
"Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia
(MLASA) plus associated with a novel de novo mutation (m.8969G>A) in
the mitochondrial encoded ATP6 gene.";
Mol. Genet. Metab. 113:207-212(2014).
[18]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[19]
VARIANTS ALA-59 AND ILE-213.
PubMed=3201231; DOI=10.1126/science.3201231;
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G.,
Lezza A.M., Elsas L.J. II, Nikoskelainen E.K.;
"Mitochondrial DNA mutation associated with Leber's hereditary optic
neuropathy.";
Science 242:1427-1430(1988).
[20]
VARIANT NARP ARG-156.
PubMed=2137962;
Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A.;
"A new mitochondrial disease associated with mitochondrial DNA
heteroplasmy.";
Am. J. Hum. Genet. 46:428-433(1990).
[21]
VARIANTS SER-33; ALA-59; TYR-61; TYR-90; ALA-112; THR-155; ILE-213 AND
GLY-219.
PubMed=1757091; DOI=10.1007/BF00206061;
Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R.,
Utthanaphol P., Byrne E.;
"Normal variants of human mitochondrial DNA and translation products:
the building of a reference data base.";
Hum. Genet. 88:139-145(1991).
[22]
VARIANT LS PRO-156.
PubMed=8395787; DOI=10.1002/ana.410340319;
de Vries D.D., van Engelen B.G.M., Gabreels F.J.M., Ruitenbeek W.,
van Oost B.A.;
"A second missense mutation in the mitochondrial ATPase 6 gene in
Leigh's syndrome.";
Ann. Neurol. 34:410-412(1993).
[23]
VARIANT LHON THR-192.
PubMed=7726182;
Lamminen T., Majander A., Juvonen V., Wikstroem M., Aula P.,
Nikoskelainen E., Savontaus M.-L.;
"A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene
associated with deficient oxidative phosphorylation in a family with
Leber hereditary optic neuroretinopathy.";
Am. J. Hum. Genet. 56:1238-1240(1995).
[24]
VARIANT MIBSN PRO-217.
PubMed=7668837; DOI=10.1002/ana.410380321;
Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D.C.,
Dimauro S.;
"A novel mitochondrial ATPase 6 point mutation in familial bilateral
striatal necrosis.";
Ann. Neurol. 38:468-472(1995).
[25]
VARIANT LS PRO-217.
PubMed=9270604; DOI=10.1212/WNL.49.2.595;
Campos Y., Martin M.A., Rubio J.C., Solana L.G., Garcia-Benayas C.,
Terradas J.L., Arenas J.;
"Leigh syndrome associated with the T9176C mutation in the ATPase 6
gene of mitochondrial DNA.";
Neurology 49:595-597(1997).
[26]
VARIANT LS ARG-156.
PubMed=9556461; DOI=10.1086/301751;
Takahashi S., Makita Y., Oki J., Miyamoto A., Yanagawa J., Naito E.,
Goto Y., Okuno A.;
"De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome.";
Am. J. Hum. Genet. 62:717-719(1998).
[27]
VARIANT LS PRO-217.
PubMed=9501263; DOI=10.1023/A:1005397227996;
Dionisi-Vici C., Seneca S., Zeviani M., Fariello G., Rimoldi M.,
Bertini E., De Meirleir L.;
"Fulminant Leigh syndrome and sudden unexpected death in a family with
the T9176C mutation of the mitochondrial ATPase 6 gene.";
J. Inherit. Metab. Dis. 21:2-8(1998).
[28]
VARIANT THR-155.
PubMed=9461455; DOI=10.1093/nar/26.4.967;
Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.;
"Automating the identification of DNA variations using quality-based
fluorescence re-sequencing: analysis of the human mitochondrial
genome.";
Nucleic Acids Res. 26:967-973(1998).
[29]
VARIANT MC5DM1 PRO-156, INVOLVEMENT IN APAO, AND VARIANT APAO PRO-156.
PubMed=16049925; DOI=10.1002/ana.20555;
Rantamaki M.T., Soini H.K., Finnila S.M., Majamaa K., Udd B.;
"Adult-onset ataxia and polyneuropathy caused by mitochondrial
8993T-->C mutation.";
Ann. Neurol. 58:337-340(2005).
[30]
VARIANT MC5DM1 PRO-156, AND VARIANT APAO PRO-156.
PubMed=18055910; DOI=10.1136/jmg.2007.052902;
Craig K., Elliott H.R., Keers S.M., Lambert C., Pyle A., Graves T.D.,
Woodward C., Sweeney M.G., Davis M.B., Hanna M.G., Chinnery P.F.;
"Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial
DNA mutation.";
J. Med. Genet. 44:797-799(2007).
[31]
INVOLVEMENT IN CMHI.
PubMed=19188198; DOI=10.1136/jmg.2008.063149;
Ware S.M., El-Hassan N., Kahler S.G., Zhang Q., Ma Y.W., Miller E.,
Wong B., Spicer R.L., Craigen W.J., Kozel B.A., Grange D.K.,
Wong L.J.;
"Infantile cardiomyopathy caused by a mutation in the overlapping
region of mitochondrial ATPase 6 and 8 genes.";
J. Med. Genet. 46:308-314(2009).
-!- FUNCTION: Mitochondrial membrane ATP synthase (F(1)F(0) ATP
synthase or Complex V) 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. F-type ATPases
consist of two structural domains, F(1) - containing the
extramembraneous catalytic core and F(0) - containing the membrane
proton channel, linked together by a central stalk and a
peripheral stalk. 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. Key component of the
proton channel; it may play a direct role in the translocation of
protons across the membrane.
-!- SUBUNIT: F-type ATPases have 2 components, CF(1) - the catalytic
core - and CF(0) - the membrane proton channel. CF(1) has five
subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0)
has three main subunits: a, b and c. Component of an ATP synthase
complex composed of ATP5F1, ATP5MC1, ATP5F1E, ATP5H, ATP5I, ATP5J,
ATP5J2, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C,
ATP5O, ATP5L, USMG5 and MP68 (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass
membrane protein.
-!- 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
mutations affecting the gene represented in this entry.
-!- DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A
maternally inherited disease resulting in acute or subacute loss
of central vision, due to optic nerve dysfunction. Cardiac
conduction defects and neurological defects have also been
described in some patients. LHON results from primary
mitochondrial DNA mutations affecting the respiratory chain
complexes. {ECO:0000269|PubMed:7726182}. Note=The disease is
caused by mutations 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 mutations 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
mutations affecting the gene represented in this entry.
-!- DISEASE: Mitochondrial complex V deficiency, mitochondrial 1
(MC5DM1) [MIM:516060]: 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
mutations 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
mutations 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
mutations 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 mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the ATPase A chain family. {ECO:0000305}.
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; J01415; AAB58948.1; -; Genomic_DNA.
EMBL; V00662; CAA24031.1; -; Genomic_DNA.
EMBL; D38112; BAA07295.1; -; Genomic_DNA.
EMBL; AF346971; AAK17316.1; -; Genomic_DNA.
EMBL; AF347011; AAK17836.1; -; Genomic_DNA.
EMBL; AF381997; AAL54597.1; -; Genomic_DNA.
EMBL; AF382010; AAL54766.1; -; Genomic_DNA.
EMBL; AF465948; AAN14618.1; -; Genomic_DNA.
EMBL; AF465949; AAN14629.1; -; Genomic_DNA.
EMBL; AF465950; AAN14640.1; -; Genomic_DNA.
EMBL; AF465956; AAN14706.1; -; Genomic_DNA.
EMBL; AF465957; AAN14717.1; -; Genomic_DNA.
EMBL; AF465962; AAN14772.1; -; Genomic_DNA.
EMBL; AF465972; AAN14882.1; -; Genomic_DNA.
EMBL; AF465974; AAN14904.1; -; Genomic_DNA.
EMBL; AF465975; AAN14915.1; -; Genomic_DNA.
EMBL; AF465976; AAN14926.1; -; Genomic_DNA.
EMBL; AY275529; AAQ19361.1; -; Genomic_DNA.
EMBL; AY289076; AAP48210.1; -; Genomic_DNA.
EMBL; AY289100; AAP48521.1; -; Genomic_DNA.
EMBL; AY339407; AAP89106.1; -; Genomic_DNA.
EMBL; AY339408; AAP89119.1; -; Genomic_DNA.
EMBL; AY339510; AAP90445.1; -; Genomic_DNA.
EMBL; AY339511; AAP90458.1; -; Genomic_DNA.
EMBL; AY339512; AAP90471.1; -; Genomic_DNA.
EMBL; AY339513; AAP90484.1; -; Genomic_DNA.
EMBL; AY339530; AAP90705.1; -; Genomic_DNA.
EMBL; AY339531; AAP90718.1; -; Genomic_DNA.
EMBL; AY339532; AAP90731.1; -; Genomic_DNA.
EMBL; AY339533; AAP90744.1; -; Genomic_DNA.
EMBL; AY339534; AAP90757.1; -; Genomic_DNA.
EMBL; AY339535; AAP90770.1; -; Genomic_DNA.
EMBL; AY339536; AAP90783.1; -; Genomic_DNA.
EMBL; AY339537; AAP90796.1; -; Genomic_DNA.
EMBL; AY339538; AAP90809.1; -; Genomic_DNA.
EMBL; AY339539; AAP90822.1; -; Genomic_DNA.
EMBL; AY339540; AAP90835.1; -; Genomic_DNA.
EMBL; AY339541; AAP90848.1; -; Genomic_DNA.
EMBL; AY339543; AAP90874.1; -; Genomic_DNA.
EMBL; AY339581; AAP91368.1; -; Genomic_DNA.
EMBL; AY339582; AAP91381.1; -; Genomic_DNA.
EMBL; AY339584; AAP91407.1; -; Genomic_DNA.
EMBL; AY195749; AAO88337.1; -; Genomic_DNA.
EMBL; AY195764; AAO88532.1; -; Genomic_DNA.
EMBL; AY195773; AAO88649.1; -; Genomic_DNA.
EMBL; AY195786; AAO88818.1; -; Genomic_DNA.
EMBL; AY255144; AAO66766.1; -; Genomic_DNA.
EMBL; AY255147; AAO66805.1; -; Genomic_DNA.
EMBL; AY255180; AAO67233.1; -; Genomic_DNA.
EMBL; AY738945; AAU13022.1; -; Genomic_DNA.
EMBL; AY738967; AAU13308.1; -; Genomic_DNA.
EMBL; AY713988; AAU02285.1; -; Genomic_DNA.
EMBL; AY713999; AAU02428.1; -; Genomic_DNA.
EMBL; AY714004; AAU02493.1; -; Genomic_DNA.
EMBL; AY714013; AAU02610.1; -; Genomic_DNA.
EMBL; AY714014; AAU02623.1; -; Genomic_DNA.
EMBL; AY714028; AAU02805.1; -; Genomic_DNA.
EMBL; AY714031; AAU02844.1; -; Genomic_DNA.
EMBL; AY714035; AAU02896.1; -; Genomic_DNA.
EMBL; AY714045; AAU03026.1; -; Genomic_DNA.
EMBL; AY495147; AAR93242.1; -; Genomic_DNA.
EMBL; AY495199; AAR93918.1; -; Genomic_DNA.
EMBL; AY495231; AAR94334.1; -; Genomic_DNA.
EMBL; AY495232; AAR94347.1; -; Genomic_DNA.
EMBL; AY495233; AAR94360.1; -; Genomic_DNA.
EMBL; AY495234; AAR94373.1; -; Genomic_DNA.
EMBL; AY495235; AAR94386.1; -; Genomic_DNA.
EMBL; AY495236; AAR94399.1; -; Genomic_DNA.
EMBL; AY495237; AAR94412.1; -; Genomic_DNA.
EMBL; AY495238; AAR94425.1; -; Genomic_DNA.
EMBL; AY519488; AAR91263.1; -; Genomic_DNA.
PIR; A01049; PWHU6.
RefSeq; YP_003024031.1; NC_012920.1.
ProteinModelPortal; P00846; -.
BioGrid; 110612; 1.
CORUM; P00846; -.
IntAct; P00846; 14.
MINT; P00846; -.
STRING; 9606.ENSP00000354632; -.
SwissPalm; P00846; -.
DMDM; 114443; -.
EPD; P00846; -.
PaxDb; P00846; -.
PeptideAtlas; P00846; -.
PRIDE; P00846; -.
TopDownProteomics; P00846; -.
Ensembl; ENST00000361899; ENSP00000354632; ENSG00000198899.
GeneID; 4508; -.
KEGG; hsa:4508; -.
CTD; 4508; -.
DisGeNET; 4508; -.
EuPathDB; HostDB:ENSG00000198899.2; -.
GeneCards; MT-ATP6; -.
GeneReviews; MT-ATP6; -.
HGNC; HGNC:7414; MT-ATP6.
MalaCards; MT-ATP6; -.
MIM; 256000; phenotype.
MIM; 500003; phenotype.
MIM; 500006; phenotype.
MIM; 500010; phenotype.
MIM; 500011; phenotype.
MIM; 516060; gene+phenotype.
MIM; 535000; phenotype.
MIM; 551500; phenotype.
neXtProt; NX_P00846; -.
OpenTargets; ENSG00000198899; -.
Orphanet; 225154; Familial infantile bilateral striatal necrosis.
Orphanet; 155; Familial isolated hypertrophic cardiomyopathy.
Orphanet; 104; Leber hereditary optic neuropathy.
Orphanet; 255210; Maternally-inherited Leigh syndrome.
Orphanet; 320360; Maternally-inherited spastic paraplegia.
Orphanet; 644; NARP syndrome.
Orphanet; 397750; Periodic paralysis with later-onset distal motor neuropathy.
eggNOG; KOG4665; Eukaryota.
eggNOG; COG0356; LUCA.
GeneTree; ENSGT00390000005568; -.
HOVERGEN; HBG016693; -.
InParanoid; P00846; -.
KO; K02126; -.
OMA; TAGHLLM; -.
OrthoDB; EOG091G12DP; -.
PhylomeDB; P00846; -.
TreeFam; TF343395; -.
Reactome; R-HSA-163210; Formation of ATP by chemiosmotic coupling.
Reactome; R-HSA-8949613; Cristae formation.
ChiTaRS; ATP6; human.
GeneWiki; MT-ATP6; -.
GenomeRNAi; 4508; -.
PRO; PR:P00846; -.
Proteomes; UP000005640; Mitochondrion.
Bgee; ENSG00000198899; -.
ExpressionAtlas; P00846; baseline and differential.
Genevisible; P00846; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
GO; GO:0005753; C:mitochondrial proton-transporting ATP synthase complex; IDA:UniProtKB.
GO; GO:0045263; C:proton-transporting ATP synthase complex, coupling factor F(o); IEA:UniProtKB-KW.
GO; GO:0015078; F:proton transmembrane transporter activity; IEA:InterPro.
GO; GO:0022857; F:transmembrane transporter activity; IC:UniProtKB.
GO; GO:0007568; P:aging; IEA:Ensembl.
GO; GO:0006754; P:ATP biosynthetic process; TAS:Reactome.
GO; GO:0042407; P:cristae formation; TAS:Reactome.
GO; GO:0042776; P:mitochondrial ATP synthesis coupled proton transport; IC:UniProtKB.
GO; GO:0055093; P:response to hyperoxia; IEA:Ensembl.
Gene3D; 1.20.120.220; -; 1.
InterPro; IPR000568; ATP_synth_F0_asu.
InterPro; IPR023011; ATP_synth_F0_asu_AS.
InterPro; IPR035908; F0_ATP_A_sf.
Pfam; PF00119; ATP-synt_A; 1.
PRINTS; PR00123; ATPASEA.
SUPFAM; SSF81336; SSF81336; 1.
TIGRFAMs; TIGR01131; ATP_synt_6_or_A; 1.
PROSITE; PS00449; ATPASE_A; 1.
1: Evidence at protein level;
ATP synthesis; Cardiomyopathy; CF(0); Complete proteome;
Disease mutation; Hydrogen ion transport; Ion transport;
Leber hereditary optic neuropathy; Leigh syndrome; Membrane;
Mitochondrion; Mitochondrion inner membrane; Neuropathy; Polymorphism;
Primary mitochondrial disease; Reference proteome;
Retinitis pigmentosa; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 226 ATP synthase subunit a.
/FTId=PRO_0000082128.
TRANSMEM 6 26 Helical. {ECO:0000255}.
TRANSMEM 68 88 Helical. {ECO:0000255}.
TRANSMEM 97 117 Helical. {ECO:0000255}.
TRANSMEM 138 158 Helical. {ECO:0000255}.
TRANSMEM 164 184 Helical. {ECO:0000255}.
TRANSMEM 189 209 Helical. {ECO:0000255}.
VARIANT 7 7 A -> T. {ECO:0000269|PubMed:15467980}.
/FTId=VAR_021178.
VARIANT 11 11 A -> T. {ECO:0000269|PubMed:12949126,
ECO:0000269|PubMed:14760490,
ECO:0000269|PubMed:15382008,
ECO:0000269|PubMed:15467980}.
/FTId=VAR_021179.
VARIANT 14 14 I -> V (in dbSNP:rs3020563).
{ECO:0000269|PubMed:14563219,
ECO:0000269|PubMed:7530363}.
/FTId=VAR_021180.
VARIANT 16 16 G -> S (in dbSNP:rs28502681).
{ECO:0000269|PubMed:12870132}.
/FTId=VAR_021181.
VARIANT 33 33 T -> S. {ECO:0000269|PubMed:1757091}.
/FTId=VAR_008556.
VARIANT 37 37 L -> P. {ECO:0000269|PubMed:12870132}.
/FTId=VAR_021182.
VARIANT 53 53 T -> I (in dbSNP:rs201336180).
{ECO:0000269|PubMed:15467980}.
/FTId=VAR_021183.
VARIANT 59 59 T -> A (in dbSNP:rs2000975).
{ECO:0000269|PubMed:1757091,
ECO:0000269|PubMed:3201231}.
/FTId=VAR_000792.
VARIANT 60 60 M -> T (in dbSNP:rs878959404).
{ECO:0000269|PubMed:12509511,
ECO:0000269|PubMed:12949126,
ECO:0000269|PubMed:14760490,
ECO:0000269|PubMed:15467980}.
/FTId=VAR_021184.
VARIANT 61 61 H -> Y. {ECO:0000269|PubMed:1757091}.
/FTId=VAR_008557.
VARIANT 80 80 A -> T. {ECO:0000269|PubMed:12022039}.
/FTId=VAR_021185.
VARIANT 90 90 H -> Y (in dbSNP:rs2298007).
{ECO:0000269|PubMed:11130070,
ECO:0000269|PubMed:11553319,
ECO:0000269|PubMed:12022039,
ECO:0000269|PubMed:12509511,
ECO:0000269|PubMed:12870132,
ECO:0000269|PubMed:15638829,
ECO:0000269|PubMed:1757091}.
/FTId=VAR_008558.
VARIANT 112 112 T -> A (in dbSNP:rs2001031).
{ECO:0000269|PubMed:11130070,
ECO:0000269|PubMed:11553319,
ECO:0000269|PubMed:12022039,
ECO:0000269|PubMed:12509511,
ECO:0000269|PubMed:12840039,
ECO:0000269|PubMed:12870132,
ECO:0000269|PubMed:12949126,
ECO:0000269|PubMed:14563219,
ECO:0000269|PubMed:14760490,
ECO:0000269|PubMed:15382008,
ECO:0000269|PubMed:15467980,
ECO:0000269|PubMed:15638829,
ECO:0000269|PubMed:1757091}.
/FTId=VAR_008559.
VARIANT 117 117 F -> L (in dbSNP:rs201123510).
{ECO:0000269|PubMed:12509511}.
/FTId=VAR_021186.
VARIANT 121 121 I -> V (in dbSNP:rs386829057).
{ECO:0000269|PubMed:15467980}.
/FTId=VAR_021187.
VARIANT 133 133 T -> A (in dbSNP:rs200329150).
{ECO:0000269|PubMed:12949126}.
/FTId=VAR_021188.
VARIANT 148 148 S -> N (in MLASA3; dbSNP:rs794726857).
{ECO:0000269|PubMed:25037980}.
/FTId=VAR_073699.
VARIANT 155 155 A -> T. {ECO:0000269|PubMed:1757091,
ECO:0000269|PubMed:9461455}.
/FTId=VAR_008560.
VARIANT 156 156 L -> P (in LS, MC5DM1 and APAO;
dbSNP:rs199476133).
{ECO:0000269|PubMed:16049925,
ECO:0000269|PubMed:18055910,
ECO:0000269|PubMed:8395787}.
/FTId=VAR_000794.
VARIANT 156 156 L -> R (in NARP and LS;
dbSNP:rs199476133).
{ECO:0000269|PubMed:2137962,
ECO:0000269|PubMed:9556461}.
/FTId=VAR_000793.
VARIANT 177 177 A -> T (in dbSNP:rs9645429).
/FTId=VAR_008561.
VARIANT 178 178 T -> A. {ECO:0000269|PubMed:12870132}.
/FTId=VAR_021189.
VARIANT 182 182 S -> L. {ECO:0000269|PubMed:12870132}.
/FTId=VAR_021190.
VARIANT 192 192 I -> T (in LHON; possible rate primary
mutation; dbSNP:rs199476134).
{ECO:0000269|PubMed:12509511,
ECO:0000269|PubMed:7726182}.
/FTId=VAR_000795.
VARIANT 192 192 I -> V. {ECO:0000269|PubMed:14760490}.
/FTId=VAR_021191.
VARIANT 193 193 F -> L. {ECO:0000269|PubMed:11130070,
ECO:0000269|PubMed:12840039}.
/FTId=VAR_021192.
VARIANT 204 204 I -> T. {ECO:0000269|PubMed:11553319,
ECO:0000269|PubMed:12870132}.
/FTId=VAR_021193.
VARIANT 213 213 V -> I (in dbSNP:rs2298010).
{ECO:0000269|PubMed:15467980,
ECO:0000269|PubMed:1757091,
ECO:0000269|PubMed:3201231}.
/FTId=VAR_000796.
VARIANT 217 217 L -> P (in LS and MIBSN;
dbSNP:rs199476135).
{ECO:0000269|PubMed:7668837,
ECO:0000269|PubMed:9270604,
ECO:0000269|PubMed:9501263}.
/FTId=VAR_000797.
VARIANT 219 219 S -> G. {ECO:0000269|PubMed:1757091}.
/FTId=VAR_008562.
VARIANT 220 220 L -> P (in LS; dbSNP:rs199476138).
{ECO:0000269|PubMed:17352390}.
/FTId=VAR_073700.
SEQUENCE 226 AA; 24817 MW; 7DB0F0BE86F55207 CRC64;
MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI KLTSKQMMTM
HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM NLAMAIPLWA GTVIMGFRSK
IKNALAHFLP QGTPTPLIPM LVIIETISLL IQPMALAVRL TANITAGHLL MHLIGSATLA
MSTINLPSTL IIFTILILLT ILEIAVALIQ AYVFTLLVSL YLHDNT


Related products :

Catalog number Product name Quantity
EIAAB45632 ATP6AP1,ATP6IP1,ATP6S1,Homo sapiens,Human,Protein XAP-3,Vacuolar proton pump subunit S1,V-ATPase Ac45 subunit,V-ATPase S1 accessory protein,V-ATPase subunit S1,VATPS1,V-type proton ATPase subunit S1,X
EIAAB45631 Atp6ap1,Atp6ip1,Atp6s1,Mouse,Mus musculus,Protein C7-1,Vacuolar proton pump subunit S1,V-ATPase Ac45 subunit,V-ATPase S1 accessory protein,V-ATPase subunit S1,V-type proton ATPase subunit S1
EIAAB45630 Atp6ap1,Atp6ip1,Atp6s1,C7-1 protein,Rat,Rattus norvegicus,Vacuolar proton pump subunit S1,V-ATPase Ac45 subunit,V-ATPase S1 accessory protein,V-ATPase subunit S1,V-type proton ATPase subunit S1
EIAAB45573 ATP6H,ATP6V0E,ATP6V0E1,Homo sapiens,Human,Vacuolar proton pump subunit e 1,V-ATPase 9.2 kDa membrane accessory protein,V-ATPase M9.2 subunit,V-ATPase subunit e 1,V-type proton ATPase subunit e 1
EIAAB45570 ATP6H,ATP6V0E,ATP6V0E1,Bos taurus,Bovine,Vacuolar proton pump subunit e 1,V-ATPase 9.2 kDa membrane accessory protein,V-ATPase M9.2 subunit,V-ATPase subunit e 1,V-type proton ATPase subunit e 1
EIAAB45629 ATP6AP1,ATP6IP1,ATP6S1,Bos taurus,Bovine,Vacuolar proton pump subunit S1,V-ATPase Ac45 subunit,V-ATPase S1 accessory protein,V-ATPase subunit S1,V-type proton ATPase subunit S1
EIAAB45562 Atp6d,Atp6v0d1,Mouse,Mus musculus,P39,Physophilin,Vacuolar proton pump subunit d 1,V-ATPase 40 kDa accessory protein,V-ATPase AC39 subunit,V-ATPase subunit d 1,V-type proton ATPase subunit d 1
15-288-22197F Vacuolar ATP synthase subunit G 1 - EC 3.6.3.14; V-ATPase G subunit 1; Vacuolar proton pump G subunit 1; V-ATPase 13 kDa subunit 1; Vacuolar ATP synthase subunit M16 Polyclonal 0.1 mg
15-288-22197F Vacuolar ATP synthase subunit G 1 - EC 3.6.3.14; V-ATPase G subunit 1; Vacuolar proton pump G subunit 1; V-ATPase 13 kDa subunit 1; Vacuolar ATP synthase subunit M16 Polyclonal 0.05 mg
10-288-22197F Vacuolar ATP synthase subunit G 1 - EC 3.6.3.14; V-ATPase G subunit 1; Vacuolar proton pump G subunit 1; V-ATPase 13 kDa subunit 1; Vacuolar ATP synthase subunit M16 0.1 mg
10-288-22197F Vacuolar ATP synthase subunit G 1 - EC 3.6.3.14; V-ATPase G subunit 1; Vacuolar proton pump G subunit 1; V-ATPase 13 kDa subunit 1; Vacuolar ATP synthase subunit M16 0.05 mg
EIAAB45563 32 kDa accessory protein,ATP6D,ATP6V0D1,Homo sapiens,Human,p39,Vacuolar proton pump subunit d 1,V-ATPase 40 kDa accessory protein,V-ATPase AC39 subunit,V-ATPase subunit d 1,VPATPD,V-type proton ATPase
15-288-22820 Vacuolar ATP synthase catalytic subunit A. ubiquitous isoform - EC 3.6.3.14; V-ATPase subunit A 1; Vacuolar proton pump alpha subunit 1; V-ATPase 69 kDa subunit 1; Isoform VA68 Polyclonal 0.1 mg
15-288-22820 Vacuolar ATP synthase catalytic subunit A. ubiquitous isoform - EC 3.6.3.14; V-ATPase subunit A 1; Vacuolar proton pump alpha subunit 1; V-ATPase 69 kDa subunit 1; Isoform VA68 Polyclonal 0.05 mg
EIAAB45564 32 kDa accessory protein,ATP6D,ATP6V0D1,Bos taurus,Bovine,P39,Vacuolar proton pump subunit d 1,V-ATPase 40 kDa accessory protein,V-ATPase AC39 subunit,V-ATPase subunit d 1,VPATPD,V-type proton ATPase
15-288-22284F Vacuolar ATP synthase subunit E - EC 3.6.3.14; V-ATPase E subunit; Vacuolar proton pump E subunit; V-ATPase 31 kDa subunit; P31 Polyclonal 0.05 mg
15-288-22284F Vacuolar ATP synthase subunit E - EC 3.6.3.14; V-ATPase E subunit; Vacuolar proton pump E subunit; V-ATPase 31 kDa subunit; P31 Polyclonal 0.1 mg
EIAAB45574 Atp6v0e,Atp6v0e1,D-serine-regulated transcript 1 protein,Dsr1,DSR-1,Rat,Rattus norvegicus,Vacuolar proton pump subunit e 1,V-ATPase 9.2 kDa membrane accessory protein,V-ATPase M9.2 subunit,V-ATPase su
EIAAB45566 Atp6v0d2,Mouse,Mus musculus,Osteoclast-specific vacuolar ATP synthase,Vacuolar proton pump subunit d 2,V-ATPase subunit d 2,V-type proton ATPase subunit d 2
10-288-22284F Vacuolar ATP synthase subunit E - EC 3.6.3.14; V-ATPase E subunit; Vacuolar proton pump E subunit; V-ATPase 31 kDa subunit; P31 0.1 mg
10-288-22284F Vacuolar ATP synthase subunit E - EC 3.6.3.14; V-ATPase E subunit; Vacuolar proton pump E subunit; V-ATPase 31 kDa subunit; P31 0.05 mg
EIAAB45669 ATP6M,ATP6V1D,Oryctolagus cuniculus,Rabbit,Vacuolar proton pump subunit D,VATD,V-ATPase 28 kDa accessory protein,V-ATPase subunit D,V-type proton ATPase subunit D
EIAAB45668 ATP6M,ATP6V1D,Homo sapiens,Human,Vacuolar proton pump subunit D,VATD,V-ATPase 28 kDa accessory protein,V-ATPase subunit D,V-type proton ATPase subunit D
EIAAB45670 ATP6M,ATP6V1D,Bos taurus,Bovine,Vacuolar proton pump subunit D,VATD,V-ATPase 28 kDa accessory protein,V-ATPase subunit D,V-type proton ATPase subunit D
EIAAB45667 Atp6m,Atp6v1d,Mouse,Mus musculus,Vacuolar proton pump subunit D,Vatd,V-ATPase 28 kDa accessory protein,V-ATPase subunit D,V-type proton ATPase subunit D


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur