P00846 (ATP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP synthase subunit a

Alternative name(s):
F-ATPase protein 6

Gene names

Name:	MT-ATP6
Synonyms:	ATP6, ATPASE6, MTATP6

Encoded on

Mitochondrion

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	226 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Mitochondrial membrane ATP synthase (F1F0 ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F1 - containing the extramembraneous catalytic core and F0 - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F1 is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
Subunit structure	F-type ATPases have 2 components, CF1 - the catalytic core - and CF0 - the membrane proton channel. CF1 has five subunits: alpha3, beta3, gamma1, delta1, epsilon1. CF0 has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 By similarity.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein.
Involvement in disease	Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]: A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20 Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Ref.22 Ref.23 Ref.24 Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21
Sequence similarities	Belongs to the ATPase A chain family.

Ontologies

Keywords
Biological process	ATP synthesis Hydrogen ion transport Ion transport Transport
Cellular component	CF(0) Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Leber hereditary optic neuropathy Leigh syndrome Retinitis pigmentosa
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from direct assay PubMed 12110673. Source: GOC mitochondrial ATP synthesis coupled proton transport Inferred by curator PubMed 12110673. Source: UniProtKB respiratory electron transport chain Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) Non-traceable author statement. Source: UniProtKB
Molecular_function	hydrogen ion transmembrane transporter activity Inferred from electronic annotation. Source: InterPro transmembrane transporter activity Inferred by curator PubMed 12110673. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 226	226	ATP synthase subunit a		PRO_0000082128
Regions
	Transmembrane	6 – 26	21	Helical; Potential
	Transmembrane	68 – 88	21	Helical; Potential
	Transmembrane	97 – 117	21	Helical; Potential
	Transmembrane	138 – 158	21	Helical; Potential
	Transmembrane	164 – 184	21	Helical; Potential
	Transmembrane	189 – 209	21	Helical; Potential
Natural variations
	Natural variant	7	1	A → T. Ref.12		VAR_021178
	Natural variant	11	1	A → T. Ref.8 Ref.11 Ref.12 Ref.13		VAR_021179
	Natural variant	14	1	I → V. Ref.2 Ref.6		VAR_021180
	Natural variant	16	1	G → S. Ref.10		VAR_021181
	Natural variant	33	1	T → S. Ref.18		VAR_008556
	Natural variant	37	1	L → P. Ref.10		VAR_021182
	Natural variant	53	1	T → I. Ref.12		VAR_021183
	Natural variant	59	1	T → A. Ref.16 Ref.18		VAR_000792
	Natural variant	60	1	M → T. Ref.8 Ref.9 Ref.12 Ref.13		VAR_021184
	Natural variant	61	1	H → Y. Ref.18		VAR_008557
	Natural variant	80	1	A → T. Ref.5		VAR_021185
	Natural variant	90	1	H → Y. Ref.3 Ref.4 Ref.5 Ref.9 Ref.10 Ref.14 Ref.18		VAR_008558
	Natural variant	112	1	T → A. Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.18		VAR_008559
	Natural variant	117	1	F → L. Ref.9		VAR_021186
	Natural variant	121	1	I → V. Ref.12		VAR_021187
	Natural variant	133	1	T → A. Ref.8		VAR_021188
	Natural variant	155	1	A → T. Ref.18 Ref.25		VAR_008560
	Natural variant	156	1	L → P in LS. Ref.19		VAR_000794
	Natural variant	156	1	L → R in NARP and LS. Ref.17 Ref.23		VAR_000793
	Natural variant	177	1	A → T.		VAR_008561
	Natural variant	178	1	T → A. Ref.10		VAR_021189
	Natural variant	182	1	S → L. Ref.10		VAR_021190
	Natural variant	192	1	I → T in LHON; possible rate primary mutation. Ref.9 Ref.20		VAR_000795
	Natural variant	192	1	I → V. Ref.13		VAR_021191
	Natural variant	193	1	F → L. Ref.3 Ref.7		VAR_021192
	Natural variant	204	1	I → T. Ref.4 Ref.10		VAR_021193
	Natural variant	213	1	V → I. Ref.12 Ref.16 Ref.18		VAR_000796
	Natural variant	217	1	L → P in LS and MIBSN. Ref.21 Ref.22 Ref.24		VAR_000797
	Natural variant	219	1	S → G. Ref.18		VAR_008562

Sequences

	Sequence		Length	Mass (Da)
	P00846 [UniParc]. Last modified July 21, 1986. Version 1. Checksum: 7DB0F0BE86F55207	FASTA	226	24,817
	10 20 30 40 50 60 MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI KLTSKQMMTM 70 80 90 100 110 120 HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM NLAMAIPLWA GTVIMGFRSK 130 140 150 160 170 180 IKNALAHFLP QGTPTPLIPM LVIIETISLL IQPMALAVRL TANITAGHLL MHLIGSATLA 190 200 210 220 MSTINLPSTL IIFTILILLT ILEIAVALIQ AYVFTLLVSL YLHDNT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sequence and organization of the human mitochondrial genome." Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G. Nature 290:457-465(1981) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-14. Tissue: Placenta.
[3]	"Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND LEU-193.
[4]	"Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90; ALA-112 AND THR-204.
[5]	"Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-80; TYR-90 AND ALA-112.
[6]	"Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography." Maca-Meyer N., Gonzalez A.M., Pestano J., Flores C., Larruga J.M., Cabrera V.M. BMC Genet. 4:15-15(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-14 AND ALA-112.
[7]	"Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines." Ingman M., Gyllensten U. Genome Res. 13:1600-1606(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-112 AND LEU-193.
[8]	"Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J." Moilanen J.S., Finnila S., Majamaa K. Mol. Biol. Evol. 20:2132-2142(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND ALA-133.
[9]	"Natural selection shaped regional mtDNA variation in humans." Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G., Hosseini S., Brandon M., Easley K., Chen E., Brown M.D., Sukernik R.I., Olckers A., Wallace D.C. Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-60; TYR-90; ALA-112; LEU-117 AND THR-192.
[10]	"Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences." Kong Q.-P., Yao Y.-G., Sun C., Bandelt H.-J., Zhu C.-L., Zhang Y.-P. Am. J. Hum. Genet. 73:671-676(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-16; PRO-37; TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204.
[11]	"The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." Achilli A., Rengo C., Magri C., Battaglia V., Olivieri A., Scozzari R., Cruciani F., Zeviani M., Briem E., Carelli V., Moral P., Dugoujon J.M., Roostalu U., Loogvali E.L., Kivisild T., Bandelt H.-J., Richards M., Villems R. , Santachiara-Benerecetti A.S., Semino O., Torroni A. Am. J. Hum. Genet. 75:910-918(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11 AND ALA-112.
[12]	"Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia." Palanichamy M.G., Sun C., Agrawal S., Bandelt H.-J., Kong Q.-P., Khan F., Wang C.Y., Chaudhuri T.K., Palla V., Zhang Y.-P. Am. J. Hum. Genet. 75:966-978(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-7; THR-11; ILE-53; THR-60; ALA-112; VAL-121 AND ILE-213.
[13]	"Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians." Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T., Irwin J.A., Parsons T.J. Int. J. Legal Med. 118:137-146(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-11; THR-60; ALA-112 AND VAL-192.
[14]	"Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups." Starikovskaya E.B., Sukernik R.I., Derbeneva O.A., Volodko N.V., Ruiz-Pesini E., Torroni A., Brown M.D., Lott M.T., Hosseini S.H., Huoponen K., Wallace D.C. Ann. Hum. Genet. 69:67-89(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-90 AND ALA-112.
[15]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]	"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy." Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J. II, Nikoskelainen E.K. Science 242:1427-1430(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-59 AND ILE-213.
[17]	"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy." Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A. Am. J. Hum. Genet. 46:428-433(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT NARP ARG-156.
[18]	"Normal variants of human mitochondrial DNA and translation products: the building of a reference data base." Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-33; ALA-59; TYR-61; TYR-90; ALA-112; THR-155; ILE-213 AND GLY-219.
[19]	"A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome." de Vries D.D., van Engelen B.G.M., Gabreels F.J.M., Ruitenbeek W., van Oost B.A. Ann. Neurol. 34:410-412(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LS PRO-156.
[20]	"A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy." Lamminen T., Majander A., Juvonen V., Wikstroem M., Aula P., Nikoskelainen E., Savontaus M.-L. Am. J. Hum. Genet. 56:1238-1240(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LHON THR-192.
[21]	"A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis." Thyagarajan D., Shanske S., Vazquez-Memije M., De Vivo D.C., Dimauro S. Ann. Neurol. 38:468-472(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MIBSN PRO-217.
[22]	"Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA." Campos Y., Martin M.A., Rubio J.C., Solana L.G., Garcia-Benayas C., Terradas J.L., Arenas J. Neurology 49:595-597(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LS PRO-217.
[23]	"De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome." Takahashi S., Makita Y., Oki J., Miyamoto A., Yanagawa J., Naito E., Goto Y., Okuno A. Am. J. Hum. Genet. 62:717-719(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LS ARG-156.
[24]	"Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene." Dionisi-Vici C., Seneca S., Zeviani M., Fariello G., Rimoldi M., Bertini E., De Meirleir L. J. Inherit. Metab. Dis. 21:2-8(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LS PRO-217.
[25]	"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome." Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A. Nucleic Acids Res. 26:967-973(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT THR-155.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	J01415 Genomic DNA. Translation: AAB58948.1. V00662 Genomic DNA. Translation: CAA24031.1. D38112 Genomic DNA. Translation: BAA07295.1. AF346971 Genomic DNA. Translation: AAK17316.1. AF347011 Genomic DNA. Translation: AAK17836.1. AF381997 Genomic DNA. Translation: AAL54597.1. AF382010 Genomic DNA. Translation: AAL54766.1. AF465948 Genomic DNA. Translation: AAN14618.1. AF465949 Genomic DNA. Translation: AAN14629.1. AF465950 Genomic DNA. Translation: AAN14640.1. AF465956 Genomic DNA. Translation: AAN14706.1. AF465957 Genomic DNA. Translation: AAN14717.1. AF465962 Genomic DNA. Translation: AAN14772.1. AF465972 Genomic DNA. Translation: AAN14882.1. AF465974 Genomic DNA. Translation: AAN14904.1. AF465975 Genomic DNA. Translation: AAN14915.1. AF465976 Genomic DNA. Translation: AAN14926.1. AY275529 Genomic DNA. Translation: AAQ19361.1. AY289076 Genomic DNA. Translation: AAP48210.1. AY289100 Genomic DNA. Translation: AAP48521.1. AY339407 Genomic DNA. Translation: AAP89106.1. AY339408 Genomic DNA. Translation: AAP89119.1. AY339510 Genomic DNA. Translation: AAP90445.1. AY339511 Genomic DNA. Translation: AAP90458.1. AY339512 Genomic DNA. Translation: AAP90471.1. AY339513 Genomic DNA. Translation: AAP90484.1. AY339530 Genomic DNA. Translation: AAP90705.1. AY339531 Genomic DNA. Translation: AAP90718.1. AY339532 Genomic DNA. Translation: AAP90731.1. AY339533 Genomic DNA. Translation: AAP90744.1. AY339534 Genomic DNA. Translation: AAP90757.1. AY339535 Genomic DNA. Translation: AAP90770.1. AY339536 Genomic DNA. Translation: AAP90783.1. AY339537 Genomic DNA. Translation: AAP90796.1. AY339538 Genomic DNA. Translation: AAP90809.1. AY339539 Genomic DNA. Translation: AAP90822.1. AY339540 Genomic DNA. Translation: AAP90835.1. AY339541 Genomic DNA. Translation: AAP90848.1. AY339543 Genomic DNA. Translation: AAP90874.1. AY339581 Genomic DNA. Translation: AAP91368.1. AY339582 Genomic DNA. Translation: AAP91381.1. AY339584 Genomic DNA. Translation: AAP91407.1. AY195749 Genomic DNA. Translation: AAO88337.1. AY195764 Genomic DNA. Translation: AAO88532.1. AY195773 Genomic DNA. Translation: AAO88649.1. AY195786 Genomic DNA. Translation: AAO88818.1. AY255144 Genomic DNA. Translation: AAO66766.1. AY255147 Genomic DNA. Translation: AAO66805.1. AY255180 Genomic DNA. Translation: AAO67233.1. AY738945 Genomic DNA. Translation: AAU13022.1. AY738967 Genomic DNA. Translation: AAU13308.1. AY713988 Genomic DNA. Translation: AAU02285.1. AY713999 Genomic DNA. Translation: AAU02428.1. AY714004 Genomic DNA. Translation: AAU02493.1. AY714013 Genomic DNA. Translation: AAU02610.1. AY714014 Genomic DNA. Translation: AAU02623.1. AY714028 Genomic DNA. Translation: AAU02805.1. AY714031 Genomic DNA. Translation: AAU02844.1. AY714035 Genomic DNA. Translation: AAU02896.1. AY714045 Genomic DNA. Translation: AAU03026.1. AY495147 Genomic DNA. Translation: AAR93242.1. AY495199 Genomic DNA. Translation: AAR93918.1. AY495231 Genomic DNA. Translation: AAR94334.1. AY495232 Genomic DNA. Translation: AAR94347.1. AY495233 Genomic DNA. Translation: AAR94360.1. AY495234 Genomic DNA. Translation: AAR94373.1. AY495235 Genomic DNA. Translation: AAR94386.1. AY495236 Genomic DNA. Translation: AAR94399.1. AY495237 Genomic DNA. Translation: AAR94412.1. AY495238 Genomic DNA. Translation: AAR94425.1. AY519488 Genomic DNA. Translation: AAR91263.1.
IPI	IPI00654820.
PIR	PWHU6. A01049.
RefSeq	YP_003024031.1. NC_012920.1.
3D structure databases
ProteinModelPortal	P00846.
ModBase	Search...
Protein-protein interaction databases
IntAct	P00846. 1 interaction.
Polymorphism databases
DMDM	114443.
Proteomic databases
PaxDb	P00846.
PRIDE	P00846.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361899; ENSP00000354632; ENSG00000198899.
GeneID	4508.
KEGG	hsa:4508.
Organism-specific databases
CTD	4508.
GeneCards	GCMTP008529.
HGNC	HGNC:7414. MT-ATP6.
MIM	256000. phenotype. 500003. phenotype. 516060. gene. 535000. phenotype. 551500. phenotype.
neXtProt	NX_P00846.
Orphanet	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.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0356.
HOVERGEN	HBG016693.
InParanoid	P00846.
KO	K02126.
OrthoDB	EOG4F7NM6.
ProtClustDB	MTH00101.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P00846.
Bgee	P00846.
Genevestigator	P00846.
GermOnline	ENSG00000198899. Homo sapiens.
Family and domain databases
Gene3D	1.20.120.220. 1 hit.
InterPro	IPR000568. ATPase_F0-cplx_asu. IPR023011. ATPase_F0-cplx_asu_AS. [Graphical view]
PANTHER	PTHR11410. PTHR11410. 1 hit.
Pfam	PF00119. ATP-synt_A. 1 hit. [Graphical view]
PRINTS	PR00123. ATPASEA.
SUPFAM	SSF81336. ATPase_F0_A. 1 hit.
TIGRFAMs	TIGR01131. ATP_synt_6_or_A. 1 hit.
PROSITE	PS00449. ATPASE_A. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4508.
NextBio	17420.
SOURCE	Search...

Entry information

Entry name

ATP6_HUMAN

Accession

Primary (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 history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	July 21, 1986
Last modified:	May 29, 2013
This is version 141 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.