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MT-ATP6 Gene

protein-coding   GIFtS: 44
GCID: GCMTP008529

Mitochondrially Encoded ATP Synthase 6

(Previous names: ATP synthase 6, spicular retinitis pigmentosa with dementia,...)
(Previous symbols: MTATP6, RP)
  See MT-ATP6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrially Encoded ATP Synthase 61     Spicular Retinitis Pigmentosa With Dementia, Seizures, Ataxia, Proximal
Muscle Weakness And Sensory Deficit1
MTATP61 2 3     ATPase62
ATP62 3     ATP Synthase F0 Subunit 62
RP1     ATPASE63
ATP Synthase 61     F-ATPase Protein 63

External Ids:    HGNC: 74141   Entrez Gene: 45082   Ensembl: ENSG000001988997   OMIM: 5160605   UniProtKB: P008463   

Export aliases for MT-ATP6 gene to outside databases

Previous GC identifer: GC00U921582


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-ATP6 Gene:
MT-ATP6 (mitochondrially encoded ATP synthase 6) is a protein-coding gene. Diseases associated with MT-ATP6 include charcot-marie-tooth hereditary neuropathy, and visual pathway disease.

UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846
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 Wiki entry for MT-ATP6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-ATP6
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-ATP6


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP008529:       (about GC identifiers)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846 (See protein sequence)
Recommended Name: ATP synthase subunit a  
Size: 226 amino acids; 24817 Da
Subunit: 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)
Secondary accessions: Q34772 Q5S8W5 Q5S9E7 Q5S9I6 Q5SA31 Q6RPB7 Q6VHC0 Q6VHE0 Q6WQF4 Q7YCC1
Q7YCF8 Q7YCG1 Q85KU8 Q85KX1 Q85L05 Q8HNQ4 Q8HNQ8 Q8WCX6 Q9B2U5 Q9B2Z2

Explore the universe of human proteins at neXtProt for MT-ATP6: NX_P00846

Explore proteomics data for MT-ATP6 at MOPED


See MT-ATP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000354632  
Reactome Protein details: P00846

MT-ATP6 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
FATP: Mitochondrial respiratory chain complex / Complex V
F1ATP: ATPases / F-type

IUPHAR Guide to PHARMACOLOGY protein family classification: A
F-type ATPase

2 InterPro protein domains:
 IPR023011 ATPase_F0-cplx_asu_AS
 IPR000568 ATPase_F0-cplx_asu

Graphical View of Domain Structure for InterPro Entry P00846

ProtoNet protein and cluster: P00846

1 Blocks protein domain: IPB000568 H+-transporting two-sector ATPase

UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846
Similarity: Belongs to the ATPase A chain family


Find genes that share domains with MT-ATP6           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ATP6_HUMAN, P00846
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): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015078hydrogen ion transmembrane transporter activity ----
GO:0016887ATPase activity ----
GO:0022857transmembrane transporter activity ----
     
Find genes that share ontologies with MT-ATP6           About GenesLikeMe


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MT-ATP6
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miRNA
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miRTarBase miRNAs that target MT-ATP6:
hsa-mir-181b-5p (MIRT047298), hsa-let-7c-5p (MIRT051758), hsa-mir-615-3p (MIRT039615), hsa-mir-196b-5p (MIRT042670), hsa-let-7e-5p (MIRT051625), hsa-mir-1908-5p (MIRT035809), hsa-mir-423-5p (MIRT038045), hsa-mir-181d-5p (MIRT041175), hsa-mir-186-5p (MIRT044973), hsa-mir-200c-3p (MIRT044383), hsa-mir-196a-5p (MIRT048206), hsa-let-7a-5p (MIRT052432), hsa-mir-17-5p (MIRT050816), hsa-let-7b-5p (MIRT052042), hsa-mir-296-3p (MIRT038398), hsa-mir-744-5p (MIRT037434), hsa-mir-93-5p (MIRT048900), hsa-mir-20a-5p (MIRT050503)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ATP6_HUMAN, P00846: Mitochondrion inner membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
plasma membrane2
endoplasmic reticulum1
extracellular1
golgi apparatus1
lysosome1
nucleus1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000276mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) ----
GO:0005739mitochondrion ----
GO:0005743mitochondrial inner membrane ----
GO:0005753mitochondrial proton-transporting ATP synthase complex ----
GO:0016021integral component of membrane ----

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MT-ATP6 About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
Parkinson's disease0.57
Electron Transport Chain0.75
Oxidative phosphorylation0.51
The citric acid (TCA) cycle and respiratory electron transport0.71
Huntington's disease0.45
Oxidative phosphorylation0.64
Formation of ATP by chemiosmotic coupling0.00
2Metabolism
Metabolism0.38
Metabolic pathways0.38
3purine nucleotide salvage
purine nucleotide salvage0.78
adenosine ribonucleotides de novo biosynthesis0.51
purine nucleotides de novo biosynthesis0.78
4Alzheimer's disease
Alzheimer's disease0.44


Find genes that share SuperPaths with MT-ATP6           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


5 BioSystems Pathways for MT-ATP6
    purine nucleotides de novo biosynthesis
Oxidative phosphorylation
Electron Transport Chain
purine nucleotide salvage
adenosine ribonucleotides de novo biosynthesis

1 Reactome Pathway for MT-ATP6
    Formation of ATP by chemiosmotic coupling


5 Kegg Pathways  (Kegg details for MT-ATP6):
    Oxidative phosphorylation
Metabolic pathways
Alzheimer's disease
Parkinson's disease
Huntington's disease

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-ATP6
Interactions:

    GeneGlobe Interaction Network for MT-ATP6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MT-ATP6 (P008463 ENSP000003546324) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP5A1P257053, ENSP000002820504I2D: score=1 STRING: ENSP00000282050
ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
ATP5C1P365423, ENSP000003491424I2D: score=1 STRING: ENSP00000349142
MT-CO3P004143, ENSP000003549824I2D: score=1 STRING: ENSP00000354982
SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
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Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006200ATP catabolic process ----
GO:0015986ATP synthesis coupled proton transport ----
GO:0022904respiratory electron transport chain ----
GO:0042776mitochondrial ATP synthesis coupled proton transport ----
GO:0044237cellular metabolic process ----

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MT-ATP6 (ATP6)

9 Novoseek inferred chemical compound relationships for MT-ATP6 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
atpa 70.4 4 8003700 (2), 7858220 (1), 1406592 (1)
oligomycin 65.8 1 15798371 (1)
atp 63.1 26 1459986 (3), 12803480 (1), 8078883 (1), 12227430 (1) (see all 17)
nadh 59 7 16876233 (1), 19026397 (1), 18668343 (1), 20454697 (1) (see all 6)
solium 54.6 1 11163447 (1)
proline 29 2 10643508 (1), 16217706 (1)
adp 13.9 4 8078883 (2)
hydrogen 6.05 2 16876233 (1)
oxygen 5.02 1 8078883 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000361899
miRNA
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Primer
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GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MT-ATP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MT-ATP6 Expression
About this image

MT-ATP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MT-ATP6 Protein Expression
    Custom PCR Arrays for MT-ATP6
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-ATP6

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for MT-ATP6 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia mt-Atp65
ATP61
mitochondrially encoded ATP synthase 65
ATP61
71.24(n)1
74.78(a)1
  MT5
177051  ATP6_345386031  NP_904333.11 
 79275 
chicken
(Gallus gallus)
Aves ATP61 ATP6 60.59(n)
55.56(a)
  807646  ATP6_5834849  NP_006920.1 
lizard
(Anolis carolinensis)
Reptilia ATP66
ATP synthase F0 subunit 6 (mitochondrion)
52(a)
1 ↔ 1
MT(7852-8535)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.68992 Transcribed sequence with weak similarity to protein prf810024A (H.sapiens) 810024A ATPase 6 [Homo sapiens] less 75.82(n)    CF378813.1 
zebrafish
(Danio rerio)
Actinopterygii ATP61 ATP6 61.16(n)
54.91(a)
  140519  ATP6_8395617  NP_059336.1 
fruit fly
(Drosophila melanogaster)
Insecta ATP61 ATP6 47.71(n)
39.45(a)
  192467  ATP6_5835238  NP_008281.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP6(Q0085)4 Mitochondrially encoded subunit a of the F0 sector of mitochondrial F1F0 ATP synthase; translation is specifically activated by Atp22p; ATP6 and ATP8 mRNAs are not translated in the absence of the F1 sector of ATPase less   --   17(28487-29266) 854601  NP_009313.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MT-ATP6 gene
4 SIMAP similar genes for MT-ATP6 using alignment to 1 protein entry:     ATP6_HUMAN:
MTATP6    atp6    ATPase 6    ATP6

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Selected Pseudogenes.org Pseudogenes for MT-ATP6 (see all 37)
PGOHUM00000238518 PGOHUM00000238609 PGOHUM00000242447 PGOHUM00000248260 PGOHUM00000248721


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MT-ATP6 (see all 32)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr MT posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0007974
Mitochondrial infantile bilateral striatal necrosis (MIBSN)4--see VAR_0007972 L P mis40--------
VAR_0007934
Neuropathy, ataxia, and retinitis pigmentosa (NARP)4--see VAR_0007932 L R mis40--------
VAR_0007954
Leber hereditary optic neuropathy (LHON)4--see VAR_0007952 I T mis40--------
VAR_0007944
Mitochondrial complex V deficiency, mitochondrial 1 (MC5DM1)4--see VAR_0007942 L P mis40--------
VAR_0211874
----see VAR_0211872 I V mis40--------
VAR_0085604
----see VAR_0085602 A T mis40--------
VAR_0211824
----see VAR_0211822 L P mis40--------
VAR_0211934
----see VAR_0211932 I T mis40--------
VAR_0211894
----see VAR_0211892 T A mis40--------
VAR_0085594
----see VAR_0085592 T A mis40--------

HapMap Linkage Disequilibrium report for MT-ATP6 (8527 - 9207 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for MT-ATP6: --
Human Gene Mutation Database (HGMD): MT-ATP6
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-ATP6
DNA2.0 Custom Variant and Variant Library Synthesis for MT-ATP6

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 516060    OMIM disorders: --

UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846
  • 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
  • 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
  • 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
  • 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
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for MT-ATP6 (see all 23):    
    About MalaCards
    charcot-marie-tooth hereditary neuropathy    visual pathway disease    cystic echinococcosis    maternally-inherited spastic paraplegia
    neuropathy ataxia retinitis pigmentosa syndrome    familial bilateral striatal necrosis    mitochondrial infantile bilateral striatal necrosis    mitochondrial complex v deficiency, mitochondrial 1
    periodic paralysis with later-onset distal motor neuropathy    striatonigral degeneration infantile    leigh syndrome due to cytochrome c oxidase deficiency    leigh syndrome, due to cox deficiency
    leigh syndrome due to mitochondrial cox4 deficiency    hereditary neuropathies    mitochondrial complex v deficiency    mitochondrial dna-associated leigh syndrome and narp
    renal tubular acidosis    dementia    kearns-sayre syndrome    leber hereditary optic neuropathy

    4 diseases from the University of Copenhagen DISEASES database for MT-ATP6:
    Leigh disease     Mitochondrial myopathy     Retinitis pigmentosa     Visual pathway disease

    Find genes that share disorders with MT-ATP6           About GenesLikeMe

    8 Novoseek inferred disease relationships for MT-ATP6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 89.5 10 8078883 (2), 16217706 (2), 8750605 (1), 19875463 (1) (see all 7)
    mitochondrial diseases 74.4 1 9883875 (1)
    retinitis pigmentosa 68.1 2 19875463 (1), 9511882 (1)
    sterility male 61 1 9883875 (1)
    mitochondrial encephalomyopathies 48.4 1 15265003 (1)
    mitochondrial myopathies 42 1 11024191 (1)
    cardiomyopathy 16.5 1 11024191 (1)
    tumors 2.18 1 15647368 (1)

    GeneTests: MT-ATP6
    GeneReviews: MT-ATP6
    Genetic Association Database (GAD): MT-ATP6

    Export disorders for MT-ATP6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MT-ATP6 gene, integrated from 10 sources (see all 145):
    (articles sorted by number of sources associating them with MT-ATP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2, 3 Anderson S.... Young I.G. (Nature 1981)
    2. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PubMed id 17619138)1, 4, 9 Ahari S.E....Bahar M.A. (Cell. Mol. Neurobiol. 2007)
    3. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PubMed id 16060290)1, 4, 9 Guo L.J....Tanaka M. (Mitochondrion 2005)
    4. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. (PubMed id 18055910)1, 2 Craig K.... Chinnery P.F. (J. Med. Genet. 2007)
    5. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. (PubMed id 17300808)1, 4 Lee Y.C....Soong B.W. (J. Neurol. Sci. 2007)
    6. Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma. (PubMed id 16604388)1, 4 Inagaki Y....Fukuchi T. (Jpn. J. Ophthalmol. 2006)
    7. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. (PubMed id 14748908)1, 4 Marotta R....Collins S. (Intern Med J 2004)
    8. Genotyping Parkinson disease-associated mitochondrial polymorphisms. (PubMed id 15931342)1, 4 Jiang Y....Greenlee A.R. (amp 2004)
    9. Identification of human-specific adaptation sites of ATP6. (PubMed id 15965056)1, 9 Mau B.L....Tzen C.Y. (Ann. N. Y. Acad. Sci. 2005)
    10. mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein. (PubMed id 16751614)1, 9 Kaltimbacher V....Corral-Debrinski M. (RNA 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4508 HGNC: 7414 Ensembl:ENSG00000198899 euGenes: HUgn4508 ECgene: MT-ATP6 Kegg: 4508
    H-InvDB: MT-ATP6

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MT-ATP6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MT-ATP6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MT-ATP6 gene:
    Search GeneIP for patents involving MT-ATP6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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