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Aliases for MT-ATP6 Gene

Aliases for MT-ATP6 Gene

  • Mitochondrially Encoded ATP Synthase 6 2
  • ATPase6 3 4
  • MTATP6 3 4
  • ATP6 3 4
  • Spicular Retinitis Pigmentosa With Dementia, Seizures, Ataxia, Proximal Muscle Weakness And Sensory Deficit 2
  • ATP Synthase F0 Subunit 6 3
  • F-ATPase Protein 6 4
  • ATP Synthase 6 2

External Ids for MT-ATP6 Gene

Previous Symbols for MT-ATP6 Gene

  • MTATP6
  • RP

Summaries for MT-ATP6 Gene

GeneCards Summary for MT-ATP6 Gene

MT-ATP6 (Mitochondrially Encoded ATP Synthase 6) is a Protein Coding gene. Diseases associated with MT-ATP6 include maternally inherited leigh syndrome and maternally-inherited spastic paraplegia. Among its related pathways are Metabolism and Metabolism.

UniProtKB/Swiss-Prot for MT-ATP6 Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) 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, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) 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

Gene Wiki entry for MT-ATP6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ATP6 Gene

Genomics for MT-ATP6 Gene

Genomic Location for MT-ATP6 Gene

Start:
8,527 bp from pter
End:
9,207 bp from pter
Size:
681 bases
Orientation:
Plus strand

Genomic View for MT-ATP6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for MT-ATP6 Gene

No data available for Regulatory Elements for MT-ATP6 Gene

Proteins for MT-ATP6 Gene

  • Protein details for MT-ATP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00846-ATP6_HUMAN
    Recommended name:
    ATP synthase subunit a
    Protein Accession:
    P00846
    Secondary Accessions:
    • Q34772
    • Q5S8W5
    • Q5S9E7
    • Q5S9I6
    • Q5SA31
    • Q6RPB7
    • Q6VHC0
    • Q6VHE0
    • Q6WQF4
    • Q7YCC1
    • Q7YCF8
    • Q7YCG1
    • Q85KU8
    • Q85KX1
    • Q85L05
    • Q8HNQ4
    • Q8HNQ8
    • Q8WCX6
    • Q9B2U5
    • Q9B2Z2

    Protein attributes for MT-ATP6 Gene

    Size:
    226 amino acids
    Molecular mass:
    24817 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) 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).

neXtProt entry for MT-ATP6 Gene

Proteomics data for MT-ATP6 Gene at MOPED

Post-translational modifications for MT-ATP6 Gene

No Post-translational modifications

Other Protein References for MT-ATP6 Gene

ENSEMBL proteins:
Reactome Protein details:

No data available for DME Specific Peptides for MT-ATP6 Gene

Domains for MT-ATP6 Gene

Gene Families for MT-ATP6 Gene

HGNC:
  • FATP :Mitochondrial respiratory chain complex / Complex V
  • F1ATP :ATPases / F-type
IUPHAR :

Protein Domains for MT-ATP6 Gene

Suggested Antigen Peptide Sequences for MT-ATP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00846

UniProtKB/Swiss-Prot:

ATP6_HUMAN
Family:
  • Belongs to the ATPase A chain family.:
    • P00846
genes like me logo Genes that share domains with MT-ATP6: view

Function for MT-ATP6 Gene

Molecular function for MT-ATP6 Gene

UniProtKB/Swiss-Prot Function: Mitochondrial membrane ATP synthase (F(1)F(0) 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, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) 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

Gene Ontology (GO) - Molecular Function for MT-ATP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0016887 ATPase activity --
GO:0022857 transmembrane transporter activity --
genes like me logo Genes that share ontologies with MT-ATP6: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MT-ATP6 Gene

Localization for MT-ATP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ATP6 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ATP6 Gene COMPARTMENTS Subcellular localization image for MT-ATP6 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MT-ATP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane --
GO:0005753 mitochondrial proton-transporting ATP synthase complex --
GO:0016021 integral component of membrane --
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o) --
genes like me logo Genes that share ontologies with MT-ATP6: view

Pathways for MT-ATP6 Gene

genes like me logo Genes that share pathways with MT-ATP6: view

Gene Ontology (GO) - Biological Process for MT-ATP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0015986 ATP synthesis coupled proton transport --
GO:0022904 respiratory electron transport chain --
GO:0042776 mitochondrial ATP synthesis coupled proton transport --
GO:0044237 cellular metabolic process --
genes like me logo Genes that share ontologies with MT-ATP6: view

Compounds for MT-ATP6 Gene

(9) Novoseek inferred chemical compound relationships for MT-ATP6 Gene

Compound -log(P) Hits PubMed IDs
atpa 70.4 4
oligomycin 65.8 1
atp 63.1 19
nadh 59 6
solium 54.6 1
genes like me logo Genes that share compounds with MT-ATP6: view

Transcripts for MT-ATP6 Gene

mRNA/cDNA for MT-ATP6 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ATP6 Gene

No ASD Table

Relevant External Links for MT-ATP6 Gene

GeneLoc Exon Structure for
MT-ATP6
ECgene alternative splicing isoforms for
MT-ATP6

Expression for MT-ATP6 Gene

mRNA expression in normal human tissues for MT-ATP6 Gene

mRNA expression in normal human tissues for MT-ATP6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MT-ATP6 Gene

genes like me logo Genes that share expressions with MT-ATP6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MT-ATP6 Gene

Orthologs for MT-ATP6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MT-ATP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6 35
  • 91 (n)
  • 93.81 (a)
MT-ATP6 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6 35
  • 72.71 (n)
  • 76.99 (a)
MT-ATP6 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6 35
  • 73.16 (n)
  • 77.88 (a)
MT-ATP6 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia ATP6 35
  • 71.24 (n)
  • 74.78 (a)
mt-Atp6 16
mt-Atp6 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
ATP6 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ATP6 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ATP6 35
  • 73.3 (n)
  • 75.66 (a)
chicken
(Gallus gallus)
Aves ATP6 35
  • 60.59 (n)
  • 55.56 (a)
MT-ATP6 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ATP6 35
  • 62.22 (n)
  • 55.56 (a)
Str.6899 35
zebrafish
(Danio rerio)
Actinopterygii ATP6 35
  • 61.16 (n)
  • 54.91 (a)
mt-atp6 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ATP6 35
  • 47.18 (n)
  • 42.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta ATP6 35
  • 47.71 (n)
  • 39.45 (a)
mt:ATPase6 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP6 36
  • 26 (a)
OneToOne
ATP6 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for MT-ATP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MT-ATP6 Gene

ENSEMBL:
Gene Tree for MT-ATP6 (if available)
TreeFam:
Gene Tree for MT-ATP6 (if available)

Paralogs for MT-ATP6 Gene

Selected SIMAP similar genes for MT-ATP6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ATP6: view

No data available for Paralogs for MT-ATP6 Gene

Variants for MT-ATP6 Gene

Sequence variations from dbSNP and Humsavar for MT-ATP6 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type MAF
VAR_000792 -
VAR_000793 Leigh syndrome (LS)
VAR_000793 Neuropathy, ataxia, and retinitis pigmentosa (NARP)
VAR_000794 Leigh syndrome (LS)
VAR_000794 Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1)

Relevant External Links for MT-ATP6 Gene

HapMap Linkage Disequilibrium report
MT-ATP6
Human Gene Mutation Database (HGMD)
MT-ATP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MT-ATP6 Gene

Disorders for MT-ATP6 Gene

UniProtKB/Swiss-Prot

ATP6_HUMAN
  • 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. {ECO:0000269 PubMed:2137962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:7726182}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:8395787, ECO:0000269 PubMed:9270604, ECO:0000269 PubMed:9501263, ECO:0000269 PubMed:9556461}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome. {ECO:0000269 PubMed:7668837}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM:516060]: A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO:0000269 PubMed:16049925, ECO:0000269 PubMed:18055910}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for MT-ATP6 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 89.5 9
mitochondrial diseases 74.4 1
retinitis pigmentosa 68.1 2
sterility male 61 1
mitochondrial encephalomyopathies 48.4 1

Relevant External Links for MT-ATP6

GeneTests
MT-ATP6
GeneReviews
MT-ATP6
Genetic Association Database (GAD)
MT-ATP6
genes like me logo Genes that share disorders with MT-ATP6: view

Publications for MT-ATP6 Gene

  1. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PMID: 16060290) Guo L.J. … Tanaka M. (Mitochondrion 2005) 3 23 48
  2. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PMID: 17619138) Ahari S.E. … Bahar M.A. (Cell. Mol. Neurobiol. 2007) 3 23 48
  3. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S. … Young I.G. (Nature 1981) 2 3 4
  4. Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene. (PMID: 19160410) Vazquez-Memije M.E. … Carrozzo R. (J. Cell. Biochem. 2009) 3 23
  5. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. (PMID: 14748908) Marotta R. … Collins S. (Intern Med J 2004) 3 48

Products for MT-ATP6 Gene

Sources for MT-ATP6 Gene

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