Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
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The MMDD missense variants R388W and R425H produced comparable amounts of AMPD1 protein on recombinant expression but had undetectable AMP deaminase activity, establishing AMPD1's core catalytic function and its role in muscle metabolism.
"undetectable AMPD activity in the"
Hypoxia modulates the purine salvage pathway and decreases red blood cell and supernatant levels of hypoxanthine during refrigerated storage.
A reference map of the human binary protein interactome.
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Human binary interactome (HuRI) map; source of AMPD1 protein-protein interaction annotations, including self-association consistent with the homotetramer and interactions with paralogs AMPD2 and AMPD3.
"reference map of the human binary protein interactome"
Myoadenylate deaminase deficiency: a new disease of muscle.
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Foundational clinical description of myoadenylate deaminase deficiency: patients with exercise-induced muscle weakness/cramping whose biopsies lacked adenylate deaminase activity, defining loss of muscle AMP deaminase as a distinct muscle disease.
"lacked adenylate deaminase by"
AMP + H2O => IMP + NH4+ (AMPD)