Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.
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Recombinant human aralar1 reconstituted into liposomes catalyzes the electrogenic exchange of aspartate for glutamate plus a proton, and also transports cysteinesulfinate; overexpression in human cells increases malate-aspartate shuttle activity; activity is stimulated by external Ca2+.
"catalyze the electrogenic exchange of aspartate for glutamate and a H"
AGC1 deficiency associated with global cerebral hypomyelination.
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A homozygous SLC25A12 missense mutation (Q590R) abolishes AGC1 transport activity and causes global cerebral hypomyelination, epilepsy, and psychomotor arrest.
"showed abolished activity"
Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
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A homozygous SLC25A12 R353Q mutation reduces AGC1 antiporter activity to ~15% of wild type and causes infantile epilepsy, abnormal myelination, and reduced brain N-acetylaspartate; AGC1 is an essential component of the neuronal malate/aspartate shuttle.
"AGC1 activity was reduced to 15% of"
Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.
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Crystal structures of the aralar/citrin regulatory domains show a homodimer in which only EF-hand 2 binds calcium; calcium binding opens a vestibule (via the C-terminal amphipathic helix) that gates substrate access to the carrier domain.
"Only EF-hand 2 binds calcium"
Architecture of the human interactome defines protein communities and disease networks.
The microRNAs miR-302b and miR-372 regulate mitochondrial metabolism via the SLC25A12 transporter, which controls MAVS-mediated antiviral innate immunity.
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SLC25A12, as part of a prohibitin complex, associates with the mitochondrial antiviral-signaling protein (MAVS), linking mitochondrial metabolism to antiviral innate immunity; the carrier is regulated by miR-302b and miR-372.
"associates with the mitochondrial antiviral-signaling"
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
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Genetic disruption of each malate-aspartate shuttle component in HEK293 cells (including SLC25A12) demonstrates the shuttle's role in maintaining the cytosolic NAD+/NADH ratio and de novo serine biosynthesis.
"genetically disrupted each MAS component"
The mitochondrial aspartate/glutamate carrier does not transport GABA.
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Human AGC1/aralar1 and AGC2/citrin (and Drosophila AGC) do not transport GABA in homo- or hetero-exchange with glutamate or aspartate; GABA does not inhibit AGC exchange activity, refuting a prior claim of mitochondrial GABA transport by AGC.
"AGC does not transport GABA"
The solute carrier superfamily interactome.
Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain.
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Original cloning of aralar (678 aa) from human heart: a bipartite mitochondrial carrier with an N-terminal EF-hand calcium-binding domain that binds calcium; the protein localizes exclusively to mitochondria and is expressed in heart, brain, and skeletal muscle.
"calcium by 45Ca2+ overlay and calcium-dependent mobility shift assays"
SLC25A12,13 exchange L-Glu and L-Asp