MT-ATP6 Gene
protein-coding GIFtS: 39
GCID: GCMTP008529
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mitochondrially encoded ATP synthase 6(Previous names: ATP synthase 6, spicular retinitis pigmentosa with dementia,...)
(Previous symbols: MTATP6, RP)
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Aliases
for MT-ATP6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrially Encoded ATP Synthase 61 | | ATP Synthase 61 | | ATP61 2 3 | | Spicular Retinitis Pigmentosa With Dementia, Seizures, Ataxia, Proximal MuscleWeakness And Sensory Deficit1 | | MTATP61 2 3 | | ATPase62 | | ATPase-61 | | ATP Synthase F0 Subunit 62 | | RP1 | | ATPASE63 | | Su6m1 | | F-ATPase Protein 63 |
Export aliases for MT-ATP6 gene to outside databasesPrevious GC identifer: GC00U921582 |
Summaries
for MT-ATP6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in thepresence of a proton gradient across the membrane which is generated by electron transport complexes of therespiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalyticcore 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 stalksubunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocationof protons across the membrane
Gene Wiki entry for MT-ATP6
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MT-ATP6
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ATP6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ATP6 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP008529: view genomic region
(about GC identifiers)
Start:
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8,527 bp from pter |
End:
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9,207 bp from pter |
Size:
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681 bases |
Orientation:
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plus strand |
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Proteins
for MT-ATP6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: Q34772 Q5S8W5 Q5S9E7 Q5S9I6 Q5SA31 Q6RPB7 Q6VHC0 Q6VHE0 Q6WQF4 Q7YCC1 Q7YCF8Q7YCG1 Q85KU8 Q85KX1 Q85L05 Q8HNQ4 Q8HNQ8 Q8WCX6 Q9B2U5 Q9B2Z2Explore the universe of human proteins at neXtProt for MT-ATP6: NX_P00846
MT-ATP6 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000354632 Reactome Protein details: P00846
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000276 | mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) |
NAS | -- | | GO:0005739 | mitochondrion |
-- | -- | | GO:0005743 | mitochondrial inner membrane |
TAS | -- | | GO:0005753 | mitochondrial proton-transporting ATP synthase complex |
IDA | 12110673 | | GO:0016021 | integral to membrane |
IEA | -- |
MT-ATP6 for ontologies About GeneDecksing
MT-ATP6 Antibody Products:
Assay Products for MT-ATP6: |
Protein
Domains /
Families
for MT-ATP6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ATP6 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P00846ProtoNet protein and cluster: P00846 1 Blocks protein family: IPB000568 H+-transporting two-sector ATPase
UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846Similarity: Belongs to the ATPase A chain family |
Function
for MT-ATP6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in thepresence of a proton gradient across the membrane which is generated by electron transport complexes of therespiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalyticcore 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 stalksubunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocationof protons across the membrane
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MT-ATP6 for ontologies About GeneDecksing
|
Pathways & Interactions
for MT-ATP6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | | | 3 | Formation of ATP by chemiosmotic coupling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for MT-ATP6
4 
Reactome Pathways for MT-ATP6
5 
Kegg Pathways (Kegg details for MT-ATP6):
MT-ATP6 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MT-ATP6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/56 Interacting proteins for MT-ATP6 (P008463 ENSP000003546324) via UniProtKB, MINT, STRING, and/or I2D (see all 56)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006200 | ATP catabolic process |
IDA | 12110673 | | GO:0015986 | ATP synthesis coupled proton transport |
NAS | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0042776 | mitochondrial ATP synthesis coupled proton transport |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MT-ATP6 for ontologies About GeneDecksing
|
Drugs & Compounds
for MT-ATP6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MT-ATP6 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ATP6
9 Novoseek chemical compound relationships for MT-ATP6 gene About this table
Search CenterWatch for drugs/clinical trials and news about MT-ATP6 / ATP6
|
Transcripts
for MT-ATP6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361899
GeneLoc Exon Structure
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Expression
for MT-ATP6 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MT-ATP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ATP6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MT-ATP6
SABiosciences Custom PCR Arrays for MT-ATP6
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ATP6 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ATP6 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ATP6 |
Orthologs
for MT-ATP6 gene
(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)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MT-ATP6 gene from 8/22 species (see all 22) About this table
ENSEMBL Gene Tree for MT-ATP6 (if available)
TreeFam Gene Tree for MT-ATP6 (if available) |
Paralogs
for MT-ATP6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ATP6 gene
3 SIMAP similar genes for MT-ATP6 using alignment to 1 protein entry: ATP6_HUMAN:MTATP6 ATPase 6 ATP6
MT-ATP6 for paralogs About GeneDecksing
5/37 Pseudogenes.org Pseudogenes for MT-ATP6 (see all 37)
PGOHUM00000238518 PGOHUM00000238609 PGOHUM00000242447 PGOHUM00000248260 PGOHUM00000248721
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Genomic Variants
for MT-ATP6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): MT-ATP6
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for MT-ATP6 gene
(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.)
About This Section
|
MT-ATP6 for disorders About GeneDecksing
OMIM gene information: 516060
OMIM disorders: --
UniProtKB/Swiss-Prot: ATP6_HUMAN, P00846
Defects in MT-ATP6 are the cause of neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)[MIM:551500] Defects in MT-ATP6 are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternallyinherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiacconduction defects and neurological defects have also been described in some patients. LHON results from primarymitochondrial DNA mutations affecting the respiratory chain complexes Defects in MT-ATP6 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disordercharacterized by bilaterally symmetrical necrotic lesions in subcortical brain regions Defects in MT-ATP6 are a cause of mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003].Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome
20/48  diseases for MT-ATP6 (see all 48): About MalaCardsretinitis pigmentosa mitochondrial dna-associated leigh syndrome and narp maternally inherited leigh syndrome kearns-sayre syndrome
familial bilateral striatal necrosis dementia multiple symmetric lipomatosis multiple symmetrical lipomatosis
open-angle glaucoma leber hereditary optic neuropathy seizures mitochondrial encephalomyopathy
ataxia retinitis spastic paraplegia hereditary spastic paraplegia
renal tubular acidosis sensorineural hearing loss complex v hearing loss
4 diseases from the University of Copenhagen DISEASES database for MT-ATP6:Leigh disease Mitochondrial myopathy Retinitis pigmentosa Visual pathway disease 8 Novoseek disease relationships for MT-ATP6 gene About this table
GeneTests: MT-ATP6
Mitochondrial DNA-Associated Leigh Syndrome and NARPMitochondrial DisordersLeber Hereditary Optic Neuropathy
Genetic Association Database (GAD): MT-ATP6
Export disorders for MT-ATP6 gene to outside databases
|
Publications
for MT-ATP6 gene (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)
About This Section
|
PubMed articles for MT-ATP6 gene, integrated from 9 sources (see all 139):
(articles sorted by number of sources associating them with MT-ATP6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2, 3 Anderson S.... Young I.G. (1981)
- Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PubMed id 16060290)1, 4, 9 Guo L.J....Tanaka M. (2005)
- Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. (PubMed id 14748908)1, 4 Marotta R....Collins S. (2004)
- Identification of human-specific adaptation sites of ATP6. (PubMed id 15965056)1, 9 Mau B.L....Tzen C.Y. (2005)
- 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. (2006)
- Two new mutations in the MTATP6 gene associated with Leigh syndrome. (PubMed id 16217706)1, 9 Moslemi A.R....Holme E. (2005)
- Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. (PubMed id 18461509)1, 9 Childs A.M....Crow Y.J. (2007)
- Natural selection shaped regional mtDNA variation in humans. (PubMed id 12509511)2, 9 Mishmar D.... Wallace D.C. (2003)
- Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients. (PubMed id 19269308)1, 9 Kucharczyk R....di Rago J.P. (2009)
- Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. (PubMed id 19026397)1, 9 Ji Y.... Yao Y.G. (2008)
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External Searches for MT-ATP6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing MT-ATP6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ATP6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ATP6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MT-ATP6 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ATP6 |
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About This Section
| 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
|
Products
for MT-ATP6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ATP6 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ATP6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ATP6 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ATP6 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ATP6 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ATP6 |
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| | | | Search Tocris compounds for MT-ATP6 |
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 | | | MT-ATP6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-ATP6 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ATP6 |
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