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Protein

ATP synthase subunit a

Gene

MT-ATP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • proton transmembrane transporter activity Source: InterPro
  • transmembrane transporter activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processATP synthesis, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation

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
Proteomesi
  • UP000005640 Componenti: Mitochondrion

Organism-specific databases

EuPathDBiHostDB:ENSG00000198899.2
HGNCiHGNC:7414 MT-ATP6
MIMi516060 gene+phenotype
neXtProtiNX_P00846

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei6 – 26HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Transmembranei138 – 158HelicalSequence analysisAdd BLAST21
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Neuropathy, ataxia, and retinitis pigmentosa (NARP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:551500
Leber hereditary optic neuropathy (LHON)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:535000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000795192I → T in LHON; possible rate primary mutation. 2 PublicationsCorresponds to variant dbSNP:rs199476134Ensembl.1
Leigh syndrome (LS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000794156L → P in LS, MC5DM1 and APAO. 3 PublicationsCorresponds to variant dbSNP:rs199476133Ensembl.1
Natural variantiVAR_073700220L → P in LS. 1 PublicationCorresponds to variant dbSNP:rs199476138Ensembl.1
Mitochondrial infantile bilateral striatal necrosis (MIBSN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionBilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.
See also OMIM:500003
Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:516060
Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:500011
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073699148S → N in MLASA3. 1 PublicationCorresponds to variant dbSNP:rs794726857Ensembl.1
Ataxia and polyneuropathy, adult-onset (APAO)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.
See also OMIM:500010
Cardiomyopathy, infantile hypertrophic (CMHI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:500006

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Leber hereditary optic neuropathy, Leigh syndrome, Neuropathy, Primary mitochondrial disease, Retinitis pigmentosa

Organism-specific databases

DisGeNETi4508
GeneReviewsiMT-ATP6
MalaCardsiMT-ATP6
MIMi256000 phenotype
500003 phenotype
500006 phenotype
500010 phenotype
500011 phenotype
516060 gene+phenotype
535000 phenotype
551500 phenotype
OpenTargetsiENSG00000198899
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

Polymorphism and mutation databases

DMDMi114443

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000821281 – 226ATP synthase subunit aAdd BLAST226

Proteomic databases

EPDiP00846
PaxDbiP00846
PeptideAtlasiP00846
PRIDEiP00846
ProteomicsDBi51290
TopDownProteomicsiP00846

PTM databases

SwissPalmiP00846

Expressioni

Gene expression databases

BgeeiENSG00000198899 Expressed in 90 organ(s), highest expression level in adult mammalian kidney
ExpressionAtlasiP00846 baseline and differential
GenevisibleiP00846 HS

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 ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and MP68 (By similarity).By similarity

Protein-protein interaction databases

BioGridi110612, 1 interactor
CORUMiP00846
IntActiP00846, 14 interactors
MINTiP00846
STRINGi9606.ENSP00000354632

Structurei

3D structure databases

ProteinModelPortaliP00846
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATPase A chain family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4665 Eukaryota
COG0356 LUCA
GeneTreeiENSGT00390000005568
HOVERGENiHBG016693
InParanoidiP00846
KOiK02126
OMAiTAGHLLM
OrthoDBiEOG091G12DP
PhylomeDBiP00846
TreeFamiTF343395

Family and domain databases

Gene3Di1.20.120.220, 1 hit
InterProiView protein in InterPro
IPR000568 ATP_synth_F0_asu
IPR023011 ATP_synth_F0_asu_AS
IPR035908 F0_ATP_A_sf
PfamiView protein in Pfam
PF00119 ATP-synt_A, 1 hit
PRINTSiPR00123 ATPASEA
SUPFAMiSSF81336 SSF81336, 1 hit
TIGRFAMsiTIGR01131 ATP_synt_6_or_A, 1 hit
PROSITEiView protein in PROSITE
PS00449 ATPASE_A, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0211787A → T1 Publication1
Natural variantiVAR_02117911A → T4 Publications1
Natural variantiVAR_02118014I → V2 PublicationsCorresponds to variant dbSNP:rs3020563Ensembl.1
Natural variantiVAR_02118116G → S1 PublicationCorresponds to variant dbSNP:rs28502681Ensembl.1
Natural variantiVAR_00855633T → S1 Publication1
Natural variantiVAR_02118237L → P1 Publication1
Natural variantiVAR_02118353T → I1 PublicationCorresponds to variant dbSNP:rs201336180Ensembl.1
Natural variantiVAR_00079259T → A2 PublicationsCorresponds to variant dbSNP:rs2000975Ensembl.1
Natural variantiVAR_02118460M → T4 PublicationsCorresponds to variant dbSNP:rs878959404Ensembl.1
Natural variantiVAR_00855761H → Y1 Publication1
Natural variantiVAR_02118580A → T1 Publication1
Natural variantiVAR_00855890H → Y7 PublicationsCorresponds to variant dbSNP:rs2298007Ensembl.1
Natural variantiVAR_008559112T → A13 PublicationsCorresponds to variant dbSNP:rs2001031Ensembl.1
Natural variantiVAR_021186117F → L1 PublicationCorresponds to variant dbSNP:rs201123510Ensembl.1
Natural variantiVAR_021187121I → V1 PublicationCorresponds to variant dbSNP:rs386829057Ensembl.1
Natural variantiVAR_021188133T → A1 PublicationCorresponds to variant dbSNP:rs200329150Ensembl.1
Natural variantiVAR_073699148S → N in MLASA3. 1 PublicationCorresponds to variant dbSNP:rs794726857Ensembl.1
Natural variantiVAR_008560155A → T2 Publications1
Natural variantiVAR_000794156L → P in LS, MC5DM1 and APAO. 3 PublicationsCorresponds to variant dbSNP:rs199476133Ensembl.1
Natural variantiVAR_000793156L → R in NARP and LS. 2 PublicationsCorresponds to variant dbSNP:rs199476133Ensembl.1
Natural variantiVAR_008561177A → T. Corresponds to variant dbSNP:rs9645429Ensembl.1
Natural variantiVAR_021189178T → A1 Publication1
Natural variantiVAR_021190182S → L1 Publication1
Natural variantiVAR_000795192I → T in LHON; possible rate primary mutation. 2 PublicationsCorresponds to variant dbSNP:rs199476134Ensembl.1
Natural variantiVAR_021191192I → V1 Publication1
Natural variantiVAR_021192193F → L2 Publications1
Natural variantiVAR_021193204I → T2 Publications1
Natural variantiVAR_000796213V → I3 PublicationsCorresponds to variant dbSNP:rs2298010Ensembl.1
Natural variantiVAR_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant dbSNP:rs199476135Ensembl.1
Natural variantiVAR_008562219S → G1 Publication1
Natural variantiVAR_073700220L → P in LS. 1 PublicationCorresponds to variant dbSNP:rs199476138Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP00846
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110612, 1 interactor
CORUMiP00846
IntActiP00846, 14 interactors
MINTiP00846
STRINGi9606.ENSP00000354632

PTM databases

SwissPalmiP00846

Polymorphism and mutation databases

DMDMi114443

Proteomic databases

EPDiP00846
PaxDbiP00846
PeptideAtlasiP00846
PRIDEiP00846
ProteomicsDBi51290
TopDownProteomicsiP00846

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361899; ENSP00000354632; ENSG00000198899
GeneIDi4508
KEGGihsa:4508

Organism-specific databases

CTDi4508
DisGeNETi4508
EuPathDBiHostDB:ENSG00000198899.2
GeneCardsiMT-ATP6
GeneReviewsiMT-ATP6
HGNCiHGNC:7414 MT-ATP6
MalaCardsiMT-ATP6
MIMi256000 phenotype
500003 phenotype
500006 phenotype
500010 phenotype
500011 phenotype
516060 gene+phenotype
535000 phenotype
551500 phenotype
neXtProtiNX_P00846
OpenTargetsiENSG00000198899
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4665 Eukaryota
COG0356 LUCA
GeneTreeiENSGT00390000005568
HOVERGENiHBG016693
InParanoidiP00846
KOiK02126
OMAiTAGHLLM
OrthoDBiEOG091G12DP
PhylomeDBiP00846
TreeFamiTF343395

Enzyme and pathway databases

ReactomeiR-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation

Miscellaneous databases

ChiTaRSiATP6 human
GeneWikiiMT-ATP6
GenomeRNAii4508
PROiPR:P00846
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198899 Expressed in 90 organ(s), highest expression level in adult mammalian kidney
ExpressionAtlasiP00846 baseline and differential
GenevisibleiP00846 HS

Family and domain databases

Gene3Di1.20.120.220, 1 hit
InterProiView protein in InterPro
IPR000568 ATP_synth_F0_asu
IPR023011 ATP_synth_F0_asu_AS
IPR035908 F0_ATP_A_sf
PfamiView protein in Pfam
PF00119 ATP-synt_A, 1 hit
PRINTSiPR00123 ATPASEA
SUPFAMiSSF81336 SSF81336, 1 hit
TIGRFAMsiTIGR01131 ATP_synt_6_or_A, 1 hit
PROSITEiView protein in PROSITE
PS00449 ATPASE_A, 1 hit
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: October 10, 2018
This is version 186 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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