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P00846

- ATP6_HUMAN

UniProt

P00846 - ATP6_HUMAN

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Protein

ATP synthase subunit a

Gene

MT-ATP6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. hydrogen ion transmembrane transporter activity Source: InterPro
  2. transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. cellular metabolic process Source: Reactome
  3. mitochondrial ATP synthesis coupled proton transport Source: UniProtKB
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

ATP synthesis, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_6759. Formation of ATP by chemiosmotic coupling.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP synthase subunit a
Alternative name(s):
F-ATPase protein 6
Gene namesi
Name:MT-ATP6
Synonyms:ATP6, ATPASE6, MTATP6
Encoded oniMitochondrion
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Mitochondrion

Organism-specific databases

HGNCiHGNC:7414. MT-ATP6.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: UniProtKB-KW
  3. mitochondrial inner membrane Source: Reactome
  4. mitochondrial proton-transporting ATP synthase complex Source: UniProtKB
  5. proton-transporting ATP synthase complex, coupling factor F(o) Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

CF(0), Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → R in NARP and LS. 2 Publications
VAR_000793
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti192 – 1921I → T in LHON; possible rate primary mutation. 2 Publications
VAR_000795
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → P in LS and MC5DM1. 3 Publications
VAR_000794
Natural varianti156 – 1561L → R in NARP and LS. 2 Publications
VAR_000793
Natural varianti217 – 2171L → P in LS and MIBSN. 3 Publications
VAR_000797
Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171L → P in LS and MIBSN. 3 Publications
VAR_000797
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti156 – 1561L → P in LS and MC5DM1. 3 Publications
VAR_000794

Keywords - Diseasei

Disease mutation, Leber hereditary optic neuropathy, Leigh syndrome, Retinitis pigmentosa

Organism-specific databases

MIMi256000. phenotype.
500003. phenotype.
516060. gene+phenotype.
535000. phenotype.
551500. phenotype.
Orphaneti225154. 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.
397750. Periodic paralysis with later-onset distal motor neuropathy.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 226226ATP synthase subunit aPRO_0000082128Add
BLAST

Proteomic databases

MaxQBiP00846.
PaxDbiP00846.
PRIDEiP00846.

Expressioni

Gene expression databases

BgeeiP00846.
ExpressionAtlasiP00846. baseline.
GenevestigatoriP00846.

Interactioni

Subunit structurei

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).By similarity

Protein-protein interaction databases

BioGridi110612. 2 interactions.
IntActiP00846. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliP00846.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei6 – 2621HelicalSequence AnalysisAdd
BLAST
Transmembranei68 – 8821HelicalSequence AnalysisAdd
BLAST
Transmembranei97 – 11721HelicalSequence AnalysisAdd
BLAST
Transmembranei138 – 15821HelicalSequence AnalysisAdd
BLAST
Transmembranei164 – 18421HelicalSequence AnalysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the ATPase A chain family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0356.
HOVERGENiHBG016693.
InParanoidiP00846.
KOiK02126.
OMAiAMSTINL.
OrthoDBiEOG769ZND.
PhylomeDBiP00846.
TreeFamiTF343395.

Family and domain databases

Gene3Di1.20.120.220. 1 hit.
InterProiIPR000568. ATPase_F0-cplx_asu.
IPR023011. ATPase_F0-cplx_asu_AS.
[Graphical view]
PANTHERiPTHR11410. PTHR11410. 1 hit.
PfamiPF00119. ATP-synt_A. 1 hit.
[Graphical view]
PRINTSiPR00123. ATPASEA.
SUPFAMiSSF81336. SSF81336. 1 hit.
TIGRFAMsiTIGR01131. ATP_synt_6_or_A. 1 hit.
PROSITEiPS00449. ATPASE_A. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P00846-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI
60 70 80 90 100
KLTSKQMMTM HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM
110 120 130 140 150
NLAMAIPLWA GTVIMGFRSK IKNALAHFLP QGTPTPLIPM LVIIETISLL
160 170 180 190 200
IQPMALAVRL TANITAGHLL MHLIGSATLA MSTINLPSTL IIFTILILLT
210 220
ILEIAVALIQ AYVFTLLVSL YLHDNT
Length:226
Mass (Da):24,817
Last modified:July 21, 1986 - v1
Checksum:i7DB0F0BE86F55207
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71A → T.1 Publication
VAR_021178
Natural varianti11 – 111A → T.4 Publications
VAR_021179
Natural varianti14 – 141I → V.2 Publications
Corresponds to variant rs3020563 [ dbSNP | Ensembl ].
VAR_021180
Natural varianti16 – 161G → S.1 Publication
VAR_021181
Natural varianti33 – 331T → S.1 Publication
VAR_008556
Natural varianti37 – 371L → P.1 Publication
VAR_021182
Natural varianti53 – 531T → I.1 Publication
VAR_021183
Natural varianti59 – 591T → A.2 Publications
Corresponds to variant rs2000975 [ dbSNP | Ensembl ].
VAR_000792
Natural varianti60 – 601M → T.4 Publications
VAR_021184
Natural varianti61 – 611H → Y.1 Publication
VAR_008557
Natural varianti80 – 801A → T.1 Publication
VAR_021185
Natural varianti90 – 901H → Y.7 Publications
VAR_008558
Natural varianti112 – 1121T → A.13 Publications
VAR_008559
Natural varianti117 – 1171F → L.1 Publication
VAR_021186
Natural varianti121 – 1211I → V.1 Publication
VAR_021187
Natural varianti133 – 1331T → A.1 Publication
VAR_021188
Natural varianti155 – 1551A → T.2 Publications
VAR_008560
Natural varianti156 – 1561L → P in LS and MC5DM1. 3 Publications
VAR_000794
Natural varianti156 – 1561L → R in NARP and LS. 2 Publications
VAR_000793
Natural varianti177 – 1771A → T.
Corresponds to variant rs9645429 [ dbSNP | Ensembl ].
VAR_008561
Natural varianti178 – 1781T → A.1 Publication
VAR_021189
Natural varianti182 – 1821S → L.1 Publication
VAR_021190
Natural varianti192 – 1921I → T in LHON; possible rate primary mutation. 2 Publications
VAR_000795
Natural varianti192 – 1921I → V.1 Publication
VAR_021191
Natural varianti193 – 1931F → L.2 Publications
VAR_021192
Natural varianti204 – 2041I → T.2 Publications
VAR_021193
Natural varianti213 – 2131V → I.3 Publications
Corresponds to variant rs2298010 [ dbSNP | Ensembl ].
VAR_000796
Natural varianti217 – 2171L → P in LS and MIBSN. 3 Publications
VAR_000797
Natural varianti219 – 2191S → G.1 Publication
VAR_008562

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
PIRiA01049. PWHU6.
RefSeqiYP_003024031.1. NC_012920.1.

Genome annotation databases

EnsembliENST00000361899; ENSP00000354632; ENSG00000198899.
GeneIDi4508.
KEGGihsa:4508.

Polymorphism databases

DMDMi114443.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
PIRi A01049. PWHU6.
RefSeqi YP_003024031.1. NC_012920.1.

3D structure databases

ProteinModelPortali P00846.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110612. 2 interactions.
IntActi P00846. 2 interactions.

Polymorphism databases

DMDMi 114443.

Proteomic databases

MaxQBi P00846.
PaxDbi P00846.
PRIDEi P00846.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361899 ; ENSP00000354632 ; ENSG00000198899 .
GeneIDi 4508.
KEGGi hsa:4508.

Organism-specific databases

CTDi 4508.
GeneCardsi GCMTP008529.
GeneReviewsi MT-ATP6.
HGNCi HGNC:7414. MT-ATP6.
MIMi 256000. phenotype.
500003. phenotype.
516060. gene+phenotype.
535000. phenotype.
551500. phenotype.
neXtProti NX_P00846.
Orphaneti 225154. 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.
397750. Periodic paralysis with later-onset distal motor neuropathy.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0356.
HOVERGENi HBG016693.
InParanoidi P00846.
KOi K02126.
OMAi AMSTINL.
OrthoDBi EOG769ZND.
PhylomeDBi P00846.
TreeFami TF343395.

Enzyme and pathway databases

Reactomei REACT_6759. Formation of ATP by chemiosmotic coupling.

Miscellaneous databases

GeneWikii MT-ATP6.
GenomeRNAii 4508.
NextBioi 17420.
PROi P00846.
SOURCEi Search...

Gene expression databases

Bgeei P00846.
ExpressionAtlasi P00846. baseline.
Genevestigatori P00846.

Family and domain databases

Gene3Di 1.20.120.220. 1 hit.
InterProi IPR000568. ATPase_F0-cplx_asu.
IPR023011. ATPase_F0-cplx_asu_AS.
[Graphical view ]
PANTHERi PTHR11410. PTHR11410. 1 hit.
Pfami PF00119. ATP-synt_A. 1 hit.
[Graphical view ]
PRINTSi PR00123. ATPASEA.
SUPFAMi SSF81336. SSF81336. 1 hit.
TIGRFAMsi TIGR01131. ATP_synt_6_or_A. 1 hit.
PROSITEi PS00449. ATPASE_A. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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. 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. 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. 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. Cited for: VARIANT MC5DM1 PRO-156.

Entry informationi

Entry nameiATP6_HUMAN
AccessioniPrimary (citable) accession number: P00846
Secondary accession number(s): Q34772
, Q5S8W5, Q5S9E7, Q5S9I6, Q5SA31, Q6RPB7, Q6VHC0, Q6VHE0, Q6WQF4, Q7YCC1, Q7YCF8, Q7YCG1, Q85KU8, Q85KX1, Q85L05, Q8HNQ4, Q8HNQ8, Q8WCX6, Q9B2U5, Q9B2Z2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: October 29, 2014
This is version 154 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3