Human Gene MT-ATP6 (ENST00000361899.2_2) from GENCODE V47lift37
  Description: 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. (from UniProt Q0ZFE3)
Gencode Transcript: ENST00000361899.2_2
Gencode Gene: ENSG00000198899.2_2
Transcript (Including UTRs)
   Position: hg19 chrM:8,528-9,208 Size: 681 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrM:8,528-9,208 Size: 681 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsMicroarray Expression
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrM:8,528-9,208)mRNA (may differ from genome)Protein (226 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: Q0ZFE3_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit a;
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity).

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: MT-ATP6
Diseases sorted by gene-association score: neuropathy, ataxia, and retinitis pigmentosa* (1079), myopathy, lactic acidosis, and sideroblastic anemia 3* (730), mitochondrial infantile bilateral striatal necrosis* (730), mitochondrial complex v deficiency, mitochondrial 1* (730), ataxia and polyneuropathy, adult-onset* (729), mitochondrial disorders* (541), leigh syndrome* (496), mitochondrial metabolism disease* (418), camptodactyly 1* (400), leber optic atrophy* (377), maternally-inherited spastic paraplegia* (350), baraitser-winter syndrome 1* (283), isolated atp synthase deficiency* (247), familial infantile bilateral striatal necrosis* (247), periodic paralysis with later-onset distal motor neuropathy* (247), cerebellar ataxia* (181), ataxia-oculomotor apraxia 3* (163), roussy-levy syndrome* (163), charcot-marie-tooth disease* (106), mitochondrial dna-associated leigh syndrome and narp* (58), myopathy, lactic acidosis, and sideroblastic anemia (40), charcot-marie-tooth hereditary neuropathy (18), familial bilateral striatal necrosis (18), cystic echinococcosis (16), mitochondrial complex v deficiency (15), sideroblastic anemia (14), cardiomyopathy, infantile hypertrophic (13), lactic acidosis (13), polyneuropathy (13), left ventricular outflow tract obstruction (11), kearns-sayre syndrome (11), echinococcosis (9), baylisascariasis (9), mitochondrial cardiomyopathy (9), mental retardation, x-linked, syndromic, hedera type (8), ataxia (6), neuropathy (6), retinitis pigmentosa (4), myopathy (3), mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (3), cardiomyopathy (2)
* = Manually curated disease association

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000568 - ATPase_F0-cplx_asu
IPR023011 - ATPase_F0-cplx_asu_AS

Pfam Domains:
PF00119 - ATP synthase A chain

SCOP Domains:
81336 - F1F0 ATP synthase subunit A

ModBase Predicted Comparative 3D Structure on Q0ZFE3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
MGIRGDEnsembl WormBaseSGD
Protein Sequence   Protein SequenceProtein Sequence
Alignment   AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity

Biological Process:
GO:0007568 aging
GO:0015986 ATP synthesis coupled proton transport
GO:0055093 response to hyperoxia

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)


-  Descriptions from all associated GenBank mRNAs
  LP895143 - Sequence 7 from Patent EP3253886.
HV963896 - JP 2012521745-A/40: Aberrant Mitochondrial DNA, Associated Fusion Transcripts and Translation Products and Hybridization Probes Therefor.
JA760640 - Sequence 59 from Patent EP2411522.
LP790441 - Sequence 59 from Patent EP3272871.
AY033611 - Homo sapiens placenta immunoregulatory factor PLIF mRNA, complete cds.
AK026530 - Homo sapiens cDNA fis, A-KAT03057, highly similar to Homo sapiens mitochondrion, ATP synthase 6.
AF368271 - Homo sapiens ATP synthase 6 mRNA, complete cds; mitochondrial gene for mitochondrial product.
HV444974 - JP 2011515091-A/30: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
HV444978 - JP 2011515091-A/34: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
HV963887 - JP 2012521745-A/31: Aberrant Mitochondrial DNA, Associated Fusion Transcripts and Translation Products and Hybridization Probes Therefor.
HV963892 - JP 2012521745-A/36: Aberrant Mitochondrial DNA, Associated Fusion Transcripts and Translation Products and Hybridization Probes Therefor.
HW291271 - JP 2013520965-A/33: UV ASSOCIATED mtDNA FUSION TRANSCRIPTS AND METHODS AND USES THEREOF.
HW291272 - JP 2013520965-A/34: UV ASSOCIATED mtDNA FUSION TRANSCRIPTS AND METHODS AND USES THEREOF.
JA040735 - Sequence 30 from Patent EP2274426.
JA040755 - Sequence 50 from Patent EP2274426.
JA760612 - Sequence 31 from Patent EP2411522.
JA760634 - Sequence 53 from Patent EP2411522.
JB242129 - Sequence 33 from Patent EP2542680.
JB242130 - Sequence 34 from Patent EP2542680.
LP790413 - Sequence 31 from Patent EP3272871.
LP790435 - Sequence 53 from Patent EP3272871.
LP803419 - Sequence 33 from Patent EP3305902.
LP803420 - Sequence 34 from Patent EP3305902.
LY485910 - KR 1020170004033-A/30: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
LY485914 - KR 1020170004033-A/50: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
HV444967 - JP 2011515091-A/23: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
HV963880 - JP 2012521745-A/24: Aberrant Mitochondrial DNA, Associated Fusion Transcripts and Translation Products and Hybridization Probes Therefor.
HW291264 - JP 2013520965-A/26: UV ASSOCIATED mtDNA FUSION TRANSCRIPTS AND METHODS AND USES THEREOF.
JA040728 - Sequence 23 from Patent EP2274426.
JA760605 - Sequence 24 from Patent EP2411522.
JB242122 - Sequence 26 from Patent EP2542680.
LP790406 - Sequence 24 from Patent EP3272871.
LP803412 - Sequence 26 from Patent EP3305902.
LY485903 - KR 1020170004033-A/23: ABERRANT MITOCHONDRIAL DNA, ASSOCIATED FUSION TRANSCRIPTS AND HYBRIDIZATION PROBES THEREFOR.
JD113307 - Sequence 94331 from Patent EP1572962.
AK057071 - Homo sapiens cDNA FLJ32509 fis, clone SMINT1000054.
Y17179 - Homo sapiens mRNA from HIV-associated non-Hodgkin's lymphoma (clone hl2-494).
Y17171 - Homo sapiens mRNA from HIV-associated non-Hodgkin's lymphoma (clone hl2-129).
JD410911 - Sequence 391935 from Patent EP1572962.
BC036586 - Homo sapiens cDNA clone IMAGE:4798970, **** WARNING: chimeric clone ****.
JD398518 - Sequence 379542 from Patent EP1572962.
DL492475 - Novel nucleic acids.
JD130444 - Sequence 111468 from Patent EP1572962.
AB064665 - Homo sapiens mRNA for OK/SW-CL.16, complete cds.
JD097059 - Sequence 78083 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: AF368271, ATP6 , ATPase6 , ENST00000361899.1, MTATP6 , Q0ZFE3, Q0ZFE3_HUMAN, uc318cke.1
UCSC ID: ENST00000361899.2_2
Representative RNA: AF368271
Protein: Q0ZFE3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MT-ATP6:
hsp (Hereditary Spastic Paraplegia Overview)
lhon (Leber Hereditary Optic Neuropathy)
mt-overview (Primary Mitochondrial Disorders Overview)
narp (Mitochondrial DNA-Associated Leigh Syndrome Spectrum)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.