Version: 8.0.0Date: Tue Jan 28 2025
Gene
ATP5F1A
- Species
- Homo sapiens
- Symbol
- ATP5F1A
- Name
- ATP synthase F1 subunit alpha
- Synonyms
- ATP synthase alpha chain, mitochondrial
- ATP synthase subunit alpha, mitochondrial
- Biotype
- protein coding gene
- Automated Description
- Enables MHC class I protein binding activity and angiostatin binding activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in negative regulation of endothelial cell proliferation; positive regulation of blood vessel endothelial cell migration; and proton motive force-driven mitochondrial ATP synthesis. Located in COP9 signalosome; mitochondrial inner membrane; and plasma membrane. Part of proton-transporting ATP synthase complex. Implicated in combined oxidative phosphorylation deficiency 22; mitochondrial complex V (ATP synthase) deficiency nuclear type 4A; and mitochondrial complex V (ATP synthase) deficiency nuclear type 4B. Biomarker of vascular dementia.
- RGD Description
- This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using 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 alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR48082
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr18:46080248...46104334 - (24.09 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.