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P00846 (ATP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP synthase subunit a
Alternative name(s):
F-ATPase protein 6
Gene names
Name:MT-ATP6
Synonyms:ATP6, ATPASE6, MTATP6
Encoded onMitochondrion
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length226 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mitochondrial membrane ATP synthase (F1F0 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, F1 - containing the extramembraneous catalytic core and F0 - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F1 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 structure

F-type ATPases have 2 components, CF1 - the catalytic core - and CF0 - the membrane proton channel. CF1 has five subunits: alpha3, beta3, gamma1, delta1, epsilon1. CF0 has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 By similarity.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Ref.22 Ref.23 Ref.24

Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.26 Ref.27

Sequence similarities

Belongs to the ATPase A chain family.

Ontologies

Keywords
   Biological processATP synthesis
Hydrogen ion transport
Ion transport
Transport
   Cellular componentCF(0)
Membrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Leber hereditary optic neuropathy
Leigh syndrome
Retinitis pigmentosa
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 12110673. Source: GOC

cellular metabolic process

Traceable author statement. Source: Reactome

mitochondrial ATP synthesis coupled proton transport

Inferred by curator PubMed 12110673. Source: UniProtKB

respiratory electron transport chain

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial inner membrane

Traceable author statement. Source: Reactome

mitochondrial proton-transporting ATP synthase complex

Inferred from direct assay PubMed 12110673. Source: UniProtKB

proton-transporting ATP synthase complex, coupling factor F(o)

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionhydrogen ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

transmembrane transporter activity

Inferred by curator PubMed 12110673. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 226226ATP synthase subunit a
PRO_0000082128

Regions

Transmembrane6 – 2621Helical; Potential
Transmembrane68 – 8821Helical; Potential
Transmembrane97 – 11721Helical; Potential
Transmembrane138 – 15821Helical; Potential
Transmembrane164 – 18421Helical; Potential
Transmembrane189 – 20921Helical; Potential

Natural variations

Natural variant71A → T. Ref.12
VAR_021178
Natural variant111A → T. Ref.8 Ref.11 Ref.12 Ref.13
VAR_021179
Natural variant141I → V. Ref.2 Ref.6
Corresponds to variant rs3020563 [ dbSNP | Ensembl ].
VAR_021180
Natural variant161G → S. Ref.10
VAR_021181
Natural variant331T → S. Ref.18
VAR_008556
Natural variant371L → P. Ref.10
VAR_021182
Natural variant531T → I. Ref.12
VAR_021183
Natural variant591T → A. Ref.16 Ref.18
Corresponds to variant rs2000975 [ dbSNP | Ensembl ].
VAR_000792
Natural variant601M → T. Ref.8 Ref.9 Ref.12 Ref.13
VAR_021184
Natural variant611H → Y. Ref.18
VAR_008557
Natural variant801A → T. Ref.5
VAR_021185
Natural variant901H → Y. Ref.3 Ref.4 Ref.5 Ref.9 Ref.10 Ref.14 Ref.18
VAR_008558
Natural variant1121T → A. Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.18
VAR_008559
Natural variant1171F → L. Ref.9
VAR_021186
Natural variant1211I → V. Ref.12
VAR_021187
Natural variant1331T → A. Ref.8
VAR_021188
Natural variant1551A → T. Ref.18 Ref.25
VAR_008560
Natural variant1561L → P in LS and MC5DM1. Ref.19 Ref.26 Ref.27
VAR_000794
Natural variant1561L → R in NARP and LS. Ref.17 Ref.23
VAR_000793
Natural variant1771A → T.
Corresponds to variant rs9645429 [ dbSNP | Ensembl ].
VAR_008561
Natural variant1781T → A. Ref.10
VAR_021189
Natural variant1821S → L. Ref.10
VAR_021190
Natural variant1921I → T in LHON; possible rate primary mutation. Ref.9 Ref.20
VAR_000795
Natural variant1921I → V. Ref.13
VAR_021191
Natural variant1931F → L. Ref.3 Ref.7
VAR_021192
Natural variant2041I → T. Ref.4 Ref.10
VAR_021193
Natural variant2131V → I. Ref.12 Ref.16 Ref.18
Corresponds to variant rs2298010 [ dbSNP | Ensembl ].
VAR_000796
Natural variant2171L → P in LS and MIBSN. Ref.21 Ref.22 Ref.24
VAR_000797
Natural variant2191S → G. Ref.18
VAR_008562

Sequences

Sequence LengthMass (Da)Tools
P00846 [UniParc].

Last modified July 21, 1986. Version 1.
Checksum: 7DB0F0BE86F55207

FASTA22624,817
        10         20         30         40         50         60 
MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI KLTSKQMMTM 

        70         80         90        100        110        120 
HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM NLAMAIPLWA GTVIMGFRSK 

       130        140        150        160        170        180 
IKNALAHFLP QGTPTPLIPM LVIIETISLL IQPMALAVRL TANITAGHLL MHLIGSATLA 

       190        200        210        220 
MSTINLPSTL IIFTILILLT ILEIAVALIQ AYVFTLLVSL YLHDNT 

« Hide

References

« Hide 'large scale' references
[1]"Sequence and organization of the human mitochondrial genome."
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.
Nature 290:457-465(1981) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs."
Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-14.
Tissue: Placenta.
[3]"Mitochondrial genome variation and the origin of modern humans."
Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.
Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND LEU-193.
[4]"Major genomic mitochondrial lineages delineate early human expansions."
Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.
BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND THR-204.
[5]"Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America."
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.
Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-80; TYR-90 AND ALA-112.
[6]"Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography."
Maca-Meyer N., Gonzalez A.M., Pestano J., Flores C., Larruga J.M., Cabrera V.M.
BMC Genet. 4:15-15(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-14 AND ALA-112.
[7]"Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines."
Ingman M., Gyllensten U.
Genome Res. 13:1600-1606(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-112 AND LEU-193.
[8]"Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J."
Moilanen J.S., Finnila S., Majamaa K.
Mol. Biol. Evol. 20:2132-2142(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND ALA-133.
[9]"Natural selection shaped regional mtDNA variation in humans."
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.
Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-60; TYR-90; ALA-112; LEU-117 AND THR-192.
[10]"Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences."
Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., Zhang Y.-P.
Am. J. Hum. Genet. 73:671-676(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-16; PRO-37; TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204.
[11]"The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool."
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. expand/collapse author list , Santachiara-Benerecetti A.S., Semino O., Torroni A.
Am. J. Hum. Genet. 75:910-918(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11 AND ALA-112.
[12]"Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia."
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.
Am. J. Hum. Genet. 75:966-978(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-7; THR-11; ILE-53; THR-60; ALA-112; VAL-121 AND ILE-213.
[13]"Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians."
Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T., Irwin J.A., Parsons T.J.
Int. J. Legal Med. 118:137-146(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND VAL-192.
[14]"Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups."
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.
Ann. Hum. Genet. 69:67-89(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90 AND ALA-112.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy."
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J. II, Nikoskelainen E.K.
Science 242:1427-1430(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-59 AND ILE-213.
[17]"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy."
Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A.
Am. J. Hum. Genet. 46:428-433(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NARP ARG-156.
[18]"Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-33; ALA-59; TYR-61; TYR-90; ALA-112; THR-155; ILE-213 AND GLY-219.
[19]"A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome."
de Vries D.D., van Engelen B.G.M., Gabreels F.J.M., Ruitenbeek W., van Oost B.A.
Ann. Neurol. 34:410-412(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS PRO-156.
[20]"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."
Lamminen T., Majander A., Juvonen V., Wikstroem M., Aula P., Nikoskelainen E., Savontaus M.-L.
Am. J. Hum. Genet. 56:1238-1240(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LHON THR-192.
[21]"A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis."
Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D.C., Dimauro S.
Ann. Neurol. 38:468-472(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MIBSN PRO-217.
[22]"Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA."
Campos Y., Martin M.A., Rubio J.C., Solana L.G., Garcia-Benayas C., Terradas J.L., Arenas J.
Neurology 49:595-597(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS PRO-217.
[23]"De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome."
Takahashi S., Makita Y., Oki J., Miyamoto A., Yanagawa J., Naito E., Goto Y., Okuno A.
Am. J. Hum. Genet. 62:717-719(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS ARG-156.
[24]"Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene."
Dionisi-Vici C., Seneca S., Zeviani M., Fariello G., Rimoldi M., Bertini E., De Meirleir L.
J. Inherit. Metab. Dis. 21:2-8(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS PRO-217.
[25]"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome."
Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.
Nucleic Acids Res. 26:967-973(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-155.
[26]"Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation."
Rantamaki M.T., Soini H.K., Finnila S.M., Majamaa K., Udd B.
Ann. Neurol. 58:337-340(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MC5DM1 PRO-156.
[27]"Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation."
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.
J. Med. Genet. 44:797-799(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MC5DM1 PRO-156.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
J01415 Genomic DNA. Translation: AAB58948.1.
V00662 Genomic DNA. Translation: CAA24031.1.
D38112 Genomic DNA. Translation: BAA07295.1.
AF346971 Genomic DNA. Translation: AAK17316.1.
AF347011 Genomic DNA. Translation: AAK17836.1.
AF381997 Genomic DNA. Translation: AAL54597.1.
AF382010 Genomic DNA. Translation: AAL54766.1.
AF465948 Genomic DNA. Translation: AAN14618.1.
AF465949 Genomic DNA. Translation: AAN14629.1.
AF465950 Genomic DNA. Translation: AAN14640.1.
AF465956 Genomic DNA. Translation: AAN14706.1.
AF465957 Genomic DNA. Translation: AAN14717.1.
AF465962 Genomic DNA. Translation: AAN14772.1.
AF465972 Genomic DNA. Translation: AAN14882.1.
AF465974 Genomic DNA. Translation: AAN14904.1.
AF465975 Genomic DNA. Translation: AAN14915.1.
AF465976 Genomic DNA. Translation: AAN14926.1.
AY275529 Genomic DNA. Translation: AAQ19361.1.
AY289076 Genomic DNA. Translation: AAP48210.1.
AY289100 Genomic DNA. Translation: AAP48521.1.
AY339407 Genomic DNA. Translation: AAP89106.1.
AY339408 Genomic DNA. Translation: AAP89119.1.
AY339510 Genomic DNA. Translation: AAP90445.1.
AY339511 Genomic DNA. Translation: AAP90458.1.
AY339512 Genomic DNA. Translation: AAP90471.1.
AY339513 Genomic DNA. Translation: AAP90484.1.
AY339530 Genomic DNA. Translation: AAP90705.1.
AY339531 Genomic DNA. Translation: AAP90718.1.
AY339532 Genomic DNA. Translation: AAP90731.1.
AY339533 Genomic DNA. Translation: AAP90744.1.
AY339534 Genomic DNA. Translation: AAP90757.1.
AY339535 Genomic DNA. Translation: AAP90770.1.
AY339536 Genomic DNA. Translation: AAP90783.1.
AY339537 Genomic DNA. Translation: AAP90796.1.
AY339538 Genomic DNA. Translation: AAP90809.1.
AY339539 Genomic DNA. Translation: AAP90822.1.
AY339540 Genomic DNA. Translation: AAP90835.1.
AY339541 Genomic DNA. Translation: AAP90848.1.
AY339543 Genomic DNA. Translation: AAP90874.1.
AY339581 Genomic DNA. Translation: AAP91368.1.
AY339582 Genomic DNA. Translation: AAP91381.1.
AY339584 Genomic DNA. Translation: AAP91407.1.
AY195749 Genomic DNA. Translation: AAO88337.1.
AY195764 Genomic DNA. Translation: AAO88532.1.
AY195773 Genomic DNA. Translation: AAO88649.1.
AY195786 Genomic DNA. Translation: AAO88818.1.
AY255144 Genomic DNA. Translation: AAO66766.1.
AY255147 Genomic DNA. Translation: AAO66805.1.
AY255180 Genomic DNA. Translation: AAO67233.1.
AY738945 Genomic DNA. Translation: AAU13022.1.
AY738967 Genomic DNA. Translation: AAU13308.1.
AY713988 Genomic DNA. Translation: AAU02285.1.
AY713999 Genomic DNA. Translation: AAU02428.1.
AY714004 Genomic DNA. Translation: AAU02493.1.
AY714013 Genomic DNA. Translation: AAU02610.1.
AY714014 Genomic DNA. Translation: AAU02623.1.
AY714028 Genomic DNA. Translation: AAU02805.1.
AY714031 Genomic DNA. Translation: AAU02844.1.
AY714035 Genomic DNA. Translation: AAU02896.1.
AY714045 Genomic DNA. Translation: AAU03026.1.
AY495147 Genomic DNA. Translation: AAR93242.1.
AY495199 Genomic DNA. Translation: AAR93918.1.
AY495231 Genomic DNA. Translation: AAR94334.1.
AY495232 Genomic DNA. Translation: AAR94347.1.
AY495233 Genomic DNA. Translation: AAR94360.1.
AY495234 Genomic DNA. Translation: AAR94373.1.
AY495235 Genomic DNA. Translation: AAR94386.1.
AY495236 Genomic DNA. Translation: AAR94399.1.
AY495237 Genomic DNA. Translation: AAR94412.1.
AY495238 Genomic DNA. Translation: AAR94425.1.
AY519488 Genomic DNA. Translation: AAR91263.1.
PIRPWHU6. A01049.
RefSeqYP_003024031.1. NC_012920.1.

3D structure databases

ProteinModelPortalP00846.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110612. 2 interactions.
IntActP00846. 2 interactions.

Polymorphism databases

DMDM114443.

Proteomic databases

MaxQBP00846.
PaxDbP00846.
PRIDEP00846.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361899; ENSP00000354632; ENSG00000198899.
GeneID4508.
KEGGhsa:4508.

Organism-specific databases

CTD4508.
GeneCardsGCMTP008529.
GeneReviewsMT-ATP6.
HGNCHGNC:7414. MT-ATP6.
MIM256000. phenotype.
500003. phenotype.
516060. gene+phenotype.
535000. phenotype.
551500. phenotype.
neXtProtNX_P00846.
Orphanet225154. Familial infantile bilateral striatal necrosis.
155. Familial isolated hypertrophic cardiomyopathy.
104. Leber hereditary optic neuropathy.
255210. Maternally-inherited Leigh syndrome.
320360. Maternally-inherited spastic paraplegia.
644. NARP syndrome.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0356.
HOVERGENHBG016693.
InParanoidP00846.
KOK02126.
OMAAMSTINL.
OrthoDBEOG769ZND.
PhylomeDBP00846.
TreeFamTF343395.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeP00846.
GenevestigatorP00846.

Family and domain databases

Gene3D1.20.120.220. 1 hit.
InterProIPR000568. ATPase_F0-cplx_asu.
IPR023011. ATPase_F0-cplx_asu_AS.
[Graphical view]
PANTHERPTHR11410. PTHR11410. 1 hit.
PfamPF00119. ATP-synt_A. 1 hit.
[Graphical view]
PRINTSPR00123. ATPASEA.
SUPFAMSSF81336. SSF81336. 1 hit.
TIGRFAMsTIGR01131. ATP_synt_6_or_A. 1 hit.
PROSITEPS00449. ATPASE_A. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMT-ATP6.
GenomeRNAi4508.
NextBio17420.
PROP00846.
SOURCESearch...

Entry information

Entry nameATP6_HUMAN
AccessionPrimary (citable) accession number: P00846
Secondary accession number(s): Q34772 expand/collapse secondary AC list , Q5S8W5, Q5S9E7, Q5S9I6, Q5SA31, Q6RPB7, Q6VHC0, Q6VHE0, Q6WQF4, Q7YCC1, Q7YCF8, Q7YCG1, Q85KU8, Q85KX1, Q85L05, Q8HNQ4, Q8HNQ8, Q8WCX6, Q9B2U5, Q9B2Z2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: July 9, 2014
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations