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This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
ATP5F1D (ATP Synthase F1 Subunit Delta) is a Protein Coding gene. Diseases associated with ATP5F1D include Mitochondrial Complex V Deficiency, Nuclear Type 5 and Isolated Atp Synthase Deficiency. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Prion disease.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 28514442 |
GO:0005524 | contributes_to ATP binding | NAS | 12539966 |
GO:0016887 | ATPase activity | NAS | 12539966 |
GO:0043531 | contributes_to ADP binding | NAS | 12539966 |
GO:0046933 | contributes_to proton-transporting ATP synthase activity, rotational mechanism | IEA,IDA | 12110673 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000275 | mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) | IBA,NAS | 12539966 |
GO:0005739 | mitochondrion | NAS | 12887009 |
GO:0005743 | mitochondrial inner membrane | ISS | -- |
GO:0005753 | mitochondrial proton-transporting ATP synthase complex | NAS | 1531933 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Pathways of neurodegeneration - multiple diseases | ||
3 | purine nucleotides de novo biosynthesis | ||
4 | Metabolism |
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5 | Prion disease |
.55
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006119 | oxidative phosphorylation | NAS | 12539966 |
GO:0006754 | ATP biosynthetic process | TAS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0009060 | aerobic respiration | IMP | 29478781 |
GO:0015986 | ATP synthesis coupled proton transport | IEA,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Desflurane | Approved | Pharma | Target, other/unknown, antagonist | 222 | ||
Isoflurane | Approved, Vet_approved | Pharma | Target, unknown | 136 | ||
Enflurane | Approved, Investigational, Vet_approved | Pharma | 2 | |||
Methoxyflurane | Approved, Investigational, Vet_approved | Pharma | antagonist | 23 | ||
Sevoflurane | Approved, Vet_approved | Pharma | antagonist | 779 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
trifluoroacetic acid |
|
76-05-1 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP5D 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP5D 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP5D 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp5d 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atp5d 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP5D 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATP5D 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATP5D 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP5D 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp5d 30 |
|
||
Str.10780 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23716 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atp5d 30 31 |
|
OneToOne | |
wufk58f09 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8822 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007841 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(1)G0230 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F58F12.1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL008W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F14773g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATP16 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G47030 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0495200 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00385 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7960 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | atp16 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555745989 | Pathogenic: Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5; Mitochondrial diseases. Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] | 1,244,118(+) |
T/Gp.Val106Gly NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) |
MISSENSE | |
rs867410737 | Pathogenic: Decreased activity of mitochondrial ATP synthase complex; Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5. Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] | 1,242,559(+) |
C/Tp.Pro82Leu NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv136n111 | CNV | deletion | 26073780 |
dgv6196n54 | CNV | loss | 21841781 |
esv2758743 | CNV | gain+loss | 17122850 |
nsv1058677 | CNV | loss | 25217958 |
nsv1060536 | CNV | gain | 25217958 |
nsv1160555 | CNV | deletion | 26073780 |
nsv470103 | CNV | gain | 18288195 |
nsv470104 | CNV | loss | 18288195 |
nsv578268 | CNV | loss | 21841781 |
nsv578272 | CNV | loss | 21841781 |
nsv828368 | CNV | gain | 20364138 |
nsv953941 | CNV | deletion | 24416366 |
nsv9662 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex v deficiency, nuclear type 5 |
|
|
isolated atp synthase deficiency |
|
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mitochondrial disorders |
|
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3-methylglutaconic aciduria |
|
|
complex partial epilepsy |
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