ATP5F1A

ATP synthase F1 subunit alpha

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

Biological Domains

Immune Response, Lipid Metabolism, Mitochondrial Metabolism, Vasculature

Pharos Class

Tbio

Also known as

ENSG00000152234 (Ensembl Release 115)

UNIPROTKB P25705

ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM, hATP1

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    False

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    True

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    False

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for ATP5F1A

The TRS for ATP5F1A, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for ATP5F1A are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for ATP5F1A.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for ATP5F1A

Select a biological domain on the left to see the list of GO terms that link ATP5F1A to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of ATP5F1A's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms ATP5F1A is annotated with.