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Entry version 195 (18 Sep 2019)
Sequence version 1 (21 Jul 1986)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP synthase subunit a
Alternative name(s):
F-ATPase protein 6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MT-ATP6
Synonyms:ATP6, ATPASE6, MTATP6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates if the gene coding for the protein originates from the hydrogenosome, the mitochondrion, the nucleomorph, different plastids or a plasmid. The absence of this section means that the gene is located in one of the main chromosomal element(s).<p><a href='/help/encoded_on' target='_top'>More...</a></p>Encoded oniMitochondrion
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Mitochondrion

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7414 MT-ATP6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
516060 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P00846

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_000793156L → R in NARP and LS. 2 PublicationsCorresponds to variant dbSNP:rs199476133Ensembl.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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant dbSNP:rs199476135Ensembl.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000797217L → P in LS and MIBSN. 3 PublicationsCorresponds to variant dbSNP:rs199476135Ensembl.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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000794156L → P in LS, MC5DM1 and APAO. 3 PublicationsCorresponds to variant dbSNP:rs199476133Ensembl.1
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.
Related information in OMIM

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
4508

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MT-ATP6

MalaCards human disease database

More...
MalaCardsi
MT-ATP6
MIMi256000 phenotype
500003 phenotype
500006 phenotype
500010 phenotype
500011 phenotype
500015 phenotype
535000 phenotype
551500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198899

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
225154 Familial infantile bilateral striatal necrosis
254913 Isolated ATP synthase deficiency
104 Leber hereditary optic neuropathy
255210 Mitochondrial DNA-associated Leigh syndrome
320360 MT-ATP6-related mitochondrial spastic paraplegia
644 NARP syndrome
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
397750 Periodic paralysis with later-onset distal motor neuropathy

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P00846

Chemistry databases

Drug and drug target database

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DrugBanki
DB00783 Estradiol
DB13952 Estradiol acetate
DB13953 Estradiol benzoate
DB13954 Estradiol cypionate
DB13955 Estradiol dienanthate
DB13956 Estradiol valerate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MT-ATP6

Domain mapping of disease mutations (DMDM)

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DMDMi
114443

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000821281 – 226ATP synthase subunit aAdd BLAST226

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P00846

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P00846

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P00846

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P00846

PeptideAtlas

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PeptideAtlasi
P00846

PRoteomics IDEntifications database

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PRIDEi
P00846

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
51290

Consortium for Top Down Proteomics

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TopDownProteomicsi
P00846

PTM databases

SwissPalm database of S-palmitoylation events

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SwissPalmi
P00846

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000198899 Expressed in 90 organ(s), highest expression level in adult mammalian kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P00846 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P00846 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 ATP5MPL (By similarity).

Interacts with DNAJC30; interaction is direct (PubMed:30318146).

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110612, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P00846

Protein interaction database and analysis system

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IntActi
P00846, 17 interactors

Molecular INTeraction database

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MINTi
P00846

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354632

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ATPase A chain family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4665 Eukaryota
COG0356 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005568

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P00846

KEGG Orthology (KO)

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KOi
K02126

Identification of Orthologs from Complete Genome Data

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OMAi
LPYTFTP

Database of Orthologous Groups

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OrthoDBi
1095315at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P00846

TreeFam database of animal gene trees

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TreeFami
TF343395

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.220, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000568 ATP_synth_F0_asu
IPR023011 ATP_synth_F0_asu_AS
IPR035908 F0_ATP_A_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00119 ATP-synt_A, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00123 ATPASEA

Superfamily database of structural and functional annotation

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SUPFAMi
SSF81336 SSF81336, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01131 ATP_synt_6_or_A, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00449 ATPASE_A, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

Protein sequence database of the Protein Information Resource

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PIRi
A01049 PWHU6

NCBI Reference Sequences

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RefSeqi
YP_003024031.1, NC_012920.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000361899; ENSP00000354632; ENSG00000198899

Database of genes from NCBI RefSeq genomes

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GeneIDi
4508

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4508

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi110612, 5 interactors
CORUMiP00846
IntActiP00846, 17 interactors
MINTiP00846
STRINGi9606.ENSP00000354632

Chemistry databases

DrugBankiDB00783 Estradiol
DB13952 Estradiol acetate
DB13953 Estradiol benzoate
DB13954 Estradiol cypionate
DB13955 Estradiol dienanthate
DB13956 Estradiol valerate

PTM databases

SwissPalmiP00846

Polymorphism and mutation databases

BioMutaiMT-ATP6
DMDMi114443

Proteomic databases

EPDiP00846
jPOSTiP00846
MassIVEiP00846
PaxDbiP00846
PeptideAtlasiP00846
PRIDEiP00846
ProteomicsDBi51290
TopDownProteomicsiP00846

Genome annotation databases

EnsembliENST00000361899; ENSP00000354632; ENSG00000198899
GeneIDi4508
KEGGihsa:4508

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4508
DisGeNETi4508

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MT-ATP6
GeneReviewsiMT-ATP6
HGNCiHGNC:7414 MT-ATP6
MalaCardsiMT-ATP6
MIMi256000 phenotype
500003 phenotype
500006 phenotype
500010 phenotype
500011 phenotype
500015 phenotype
516060 gene
535000 phenotype
551500 phenotype
neXtProtiNX_P00846
OpenTargetsiENSG00000198899
Orphaneti225154 Familial infantile bilateral striatal necrosis
254913 Isolated ATP synthase deficiency
104 Leber hereditary optic neuropathy
255210 Mitochondrial DNA-associated Leigh syndrome
320360 MT-ATP6-related mitochondrial spastic paraplegia
644 NARP syndrome
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
397750 Periodic paralysis with later-onset distal motor neuropathy

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4665 Eukaryota
COG0356 LUCA
GeneTreeiENSGT00390000005568
InParanoidiP00846
KOiK02126
OMAiLPYTFTP
OrthoDBi1095315at2759
PhylomeDBiP00846
TreeFamiTF343395

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ATP6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MT-ATP6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4508
PharosiP00846

Protein Ontology

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PROi
PR:P00846

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATP6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>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
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: September 18, 2019
This is version 195 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  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
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