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Aliases for MT-ATP6 Gene

Aliases for MT-ATP6 Gene

  • Mitochondrially Encoded ATP Synthase 6 2 5
  • 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 HGNC Symbols for MT-ATP6 Gene

  • MTATP6
  • RP

Previous GeneCards Identifiers for MT-ATP6 Gene

  • GC00U921582
  • GCMTP008529

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 Neuropathy, Ataxia, And Retinitis Pigmentosa and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and purine nucleotides de novo biosynthesis. GO annotations related to this gene include ATPase activity and hydrogen ion transmembrane transporter activity.

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 , CIViC 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

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

Genomic View for MT-ATP6 Gene

Genes around MT-ATP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

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

Post-translational modifications for MT-ATP6 Gene

No Post-translational modifications

Other Protein References for MT-ATP6 Gene

ENSEMBL proteins:

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

Domains & Families for MT-ATP6 Gene

Gene Families for MT-ATP6 Gene

Protein Domains for MT-ATP6 Gene

Graphical View of Domain Structure for InterPro Entry

P00846

UniProtKB/Swiss-Prot:

ATP6_HUMAN :
  • Belongs to the ATPase A chain family.
Family:
  • Belongs to the ATPase A chain family.
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 IEA --
GO:0016887 ATPase activity IDA --
GO:0022857 transmembrane transporter activity IC --
genes like me logo Genes that share ontologies with MT-ATP6: view

Human Phenotype Ontology for MT-ATP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-ATP6 gene
Compartment Confidence
extracellular 5
mitochondrion 5
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o) IEA --
genes like me logo Genes that share ontologies with MT-ATP6: view

Pathways & Interactions 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:0006754 ATP biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007568 aging IEA --
GO:0015986 ATP synthesis coupled proton transport IEA --
genes like me logo Genes that share ontologies with MT-ATP6: view

No data available for SIGNOR curated interactions for MT-ATP6 Gene

Drugs & Compounds for MT-ATP6 Gene

(5) Drugs for MT-ATP6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for MT-ATP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 :

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MT-ATP6 Gene

mRNA expression in normal human tissues for MT-ATP6 Gene

Protein differential expression in normal tissues from HIPED for MT-ATP6 Gene

This gene is overexpressed in Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-ATP6 Gene



Protein tissue co-expression partners for MT-ATP6 Gene

Evidence on tissue expression from TISSUES for MT-ATP6 Gene

  • Muscle(4.3)
  • Heart(4.2)
  • Liver(3.9)
  • Skin(3.8)
  • Nervous system(3.8)
  • Adrenal gland(3.7)
  • Kidney(3.7)
  • Pancreas(3.4)
  • Stomach(3.4)
  • Gall bladder(3.3)
  • Intestine(3.3)
  • Lung(3.3)
  • Lymph node(3.2)
  • Bone marrow(3.1)
  • Spleen(3.1)
  • Thyroid gland(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ATP6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns 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 MT-ATP6 35
  • 94 (a)
OneToOne
ATP6 34
  • 91 (n)
cow
(Bos Taurus)
Mammalia MT-ATP6 35
  • 78 (a)
OneToOne
ATP6 34
  • 72.71 (n)
dog
(Canis familiaris)
Mammalia MT-ATP6 35
  • 78 (a)
OneToOne
ATP6 34
  • 73.16 (n)
mouse
(Mus musculus)
Mammalia mt-Atp6 16 35
  • 76 (a)
ATP6 34
  • 71.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ATP6 35
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ATP6 34
  • 73.3 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 73 (a)
OneToMany
ATP6 35
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6 34
  • 60.59 (n)
MT-ATP6 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ATP6 34
  • 62.22 (n)
Str.6899 34
zebrafish
(Danio rerio)
Actinopterygii ATP6 34
  • 61.16 (n)
mt-atp6 35
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ATP6 34
  • 47.71 (n)
mt:ATPase6 35
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ATP6 34
  • 47.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP6 35 37
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for MT-ATP6 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs199476133 Pathogenic, Neuropathy, ataxia, and retinitis pigmentosa (NARP) [MIM:551500], Ataxia and polyneuropathy, adult-onset (APAO) [MIM:500010], Leigh syndrome (LS) [MIM:256000], Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1) [MIM:516060], Leigh syndrome (LS) [MIM:256000] 8,993(+) AGCCC(C/G/T)GGCCG reference, missense
rs199476134 Pathogenic, Leber hereditary optic neuropathy (LHON) [MIM:535000] 9,101(+) TATCA(C/T)CTTCA reference, missense
rs199476135 Pathogenic, Leigh syndrome (LS) [MIM:256000], Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003] 9,176(+) ACTTC(C/G/T)AGTAA reference, missense
rs199476138 Pathogenic, Leigh syndrome (LS) [MIM:256000] 9,185(+) AAGCC(C/T)CTACC reference, missense
rs794726857 Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011], Pathogenic 8,969(+) CATCA(A/G)CCTAC reference, missense

Relevant External Links for MT-ATP6 Gene

Human Gene Mutation Database (HGMD)
MT-ATP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ATP6

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

Disorders for MT-ATP6 Gene

MalaCards: The human disease database

(34) MalaCards diseases for MT-ATP6 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, ataxia, and retinitis pigmentosa
  • neuropathy ataxia retinitis pigmentosa syndrome
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
myopathy, lactic acidosis, and sideroblastic anemia 3
  • mlasa3
mitochondrial infantile bilateral striatal necrosis
  • mibsn
mitochondrial complex v deficiency, mitochondrial 1
  • adult-onset ataxia and polyneuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATP6_HUMAN
  • 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:17352390, 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 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.
  • 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.
  • Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011]: A 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. {ECO:0000269 PubMed:25037980}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Relevant External Links for MT-ATP6

Genetic Association Database (GAD)
MT-ATP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ATP6
genes like me logo Genes that share disorders with MT-ATP6: view

No data available for Genatlas for MT-ATP6 Gene

Publications for MT-ATP6 Gene

  1. 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 22 46 64
  2. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PMID: 16060290) Guo L.J. … Tanaka M. (Mitochondrion 2005) 3 22 46 64
  3. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S. … Young I.G. (Nature 1981) 2 3 4 64
  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 22 64
  5. Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients. (PMID: 19269308) Kucharczyk R. … di Rago J.P. (Biochim. Biophys. Acta 2009) 3 22 64

Products for MT-ATP6 Gene

Sources for MT-ATP6 Gene

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