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Protein

ATP synthase subunit a

Gene

MT-ATP6

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

  • hydrogen ion transmembrane transporter activity Source: InterPro
  • transmembrane transporter activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

ATP synthesis, Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-163210. 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
Proteomesi
  • UP000005640 Componenti: Mitochondrion

Organism-specific databases

HGNCiHGNC:7414. MT-ATP6.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000793156L → R in NARP and LS. 2 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
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 rs199476134dbSNPEnsembl.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 and MC5DM1. 3 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
Natural variantiVAR_000793156L → R in NARP and LS. 2 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
Natural variantiVAR_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant rs199476135dbSNPEnsembl.1
Natural variantiVAR_073700220L → P in LS. 1 PublicationCorresponds to variant rs199476138dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant rs199476135dbSNPEnsembl.1
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000794156L → P in LS and MC5DM1. 3 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
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 rs794726857dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi4508.
MalaCardsiMT-ATP6.
MIMi256000. phenotype.
500003. 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.
TopDownProteomicsiP00846.

PTM databases

SwissPalmiP00846.

Expressioni

Gene expression databases

BgeeiENSG00000198899.
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 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. 1 interactor.
IntActiP00846. 14 interactors.
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.
OMAiALIMIET.
OrthoDBiEOG091G12DP.
PhylomeDBiP00846.
TreeFamiTF343395.

Family and domain databases

Gene3Di1.20.120.220. 1 hit.
InterProiIPR000568. ATP_synth_F0_asu.
IPR023011. ATP_synth_F0_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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0211787A → T.1 Publication1
Natural variantiVAR_02117911A → T.4 Publications1
Natural variantiVAR_02118014I → V.2 PublicationsCorresponds to variant rs3020563dbSNPEnsembl.1
Natural variantiVAR_02118116G → S.1 PublicationCorresponds to variant rs28502681dbSNPEnsembl.1
Natural variantiVAR_00855633T → S.1 Publication1
Natural variantiVAR_02118237L → P.1 Publication1
Natural variantiVAR_02118353T → I.1 PublicationCorresponds to variant rs201336180dbSNPEnsembl.1
Natural variantiVAR_00079259T → A.2 PublicationsCorresponds to variant rs2000975dbSNPEnsembl.1
Natural variantiVAR_02118460M → T.4 Publications1
Natural variantiVAR_00855761H → Y.1 Publication1
Natural variantiVAR_02118580A → T.1 Publication1
Natural variantiVAR_00855890H → Y.7 PublicationsCorresponds to variant rs2298007dbSNPEnsembl.1
Natural variantiVAR_008559112T → A.13 PublicationsCorresponds to variant rs2001031dbSNPEnsembl.1
Natural variantiVAR_021186117F → L.1 PublicationCorresponds to variant rs201123510dbSNPEnsembl.1
Natural variantiVAR_021187121I → V.1 PublicationCorresponds to variant rs386829057dbSNPEnsembl.1
Natural variantiVAR_021188133T → A.1 PublicationCorresponds to variant rs200329150dbSNPEnsembl.1
Natural variantiVAR_073699148S → N in MLASA3. 1 PublicationCorresponds to variant rs794726857dbSNPEnsembl.1
Natural variantiVAR_008560155A → T.2 Publications1
Natural variantiVAR_000794156L → P in LS and MC5DM1. 3 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
Natural variantiVAR_000793156L → R in NARP and LS. 2 PublicationsCorresponds to variant rs199476133dbSNPEnsembl.1
Natural variantiVAR_008561177A → T.Corresponds to variant rs9645429dbSNPEnsembl.1
Natural variantiVAR_021189178T → A.1 Publication1
Natural variantiVAR_021190182S → L.1 PublicationCorresponds to variant rs193303046dbSNPEnsembl.1
Natural variantiVAR_000795192I → T in LHON; possible rate primary mutation. 2 PublicationsCorresponds to variant rs199476134dbSNPEnsembl.1
Natural variantiVAR_021191192I → V.1 Publication1
Natural variantiVAR_021192193F → L.2 Publications1
Natural variantiVAR_021193204I → T.2 Publications1
Natural variantiVAR_000796213V → I.3 PublicationsCorresponds to variant rs2298010dbSNPEnsembl.1
Natural variantiVAR_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant rs199476135dbSNPEnsembl.1
Natural variantiVAR_008562219S → G.1 Publication1
Natural variantiVAR_073700220L → P in LS. 1 PublicationCorresponds to variant rs199476138dbSNPEnsembl.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

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.
IntActiP00846. 14 interactors.
STRINGi9606.ENSP00000354632.

PTM databases

SwissPalmiP00846.

Polymorphism and mutation databases

DMDMi114443.

Proteomic databases

EPDiP00846.
PaxDbiP00846.
PeptideAtlasiP00846.
PRIDEiP00846.
TopDownProteomicsiP00846.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4508.
DisGeNETi4508.
GeneCardsiMT-ATP6.
GeneReviewsiMT-ATP6.
HGNCiHGNC:7414. MT-ATP6.
MalaCardsiMT-ATP6.
MIMi256000. phenotype.
500003. 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.
OMAiALIMIET.
OrthoDBiEOG091G12DP.
PhylomeDBiP00846.
TreeFamiTF343395.

Enzyme and pathway databases

ReactomeiR-HSA-163210. Formation of ATP by chemiosmotic coupling.

Miscellaneous databases

GeneWikiiMT-ATP6.
GenomeRNAii4508.
PROiP00846.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198899.
ExpressionAtlasiP00846. baseline and differential.
GenevisibleiP00846. HS.

Family and domain databases

Gene3Di1.20.120.220. 1 hit.
InterProiIPR000568. ATP_synth_F0_asu.
IPR023011. ATP_synth_F0_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]
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 historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: November 30, 2016
This is version 170 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.