Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells.
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Human AdSSL1 is the muscle isozyme of adenylosuccinate synthetase that catalyzes the first committed step in AMP synthesis; recombinant protein has typical adenylosuccinate synthase activity and the protein localizes to the cytoplasm.
"Recombinant AdSSL1 protein possesses typical enzymatic activity to catalyze adenylosuccinate formation."
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
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Biallelic ADSSL1 mutations cause autosomal recessive adolescent-onset distal myopathy (MPD5); the mutations decrease adenylosuccinate synthase enzymatic activity.
"Both the D304N and I350fs mutations in ADSSL1 led to decreased enzymatic activity."
Architecture of the human interactome defines protein communities and disease networks.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Multimodal cell maps as a foundation for structural and functional genomics.
IMP + L-Aspartate + GTP => Adenylosuccinate + GDP + Pi [ADSS]
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Adenylosuccinate synthetase isoforms (including ADSSL1) catalyze the reaction of IMP, aspartate, and GTP to form adenylosuccinate, GDP and orthophosphate in the cytosol.
"Two isoforms of adenylosuccinate synthetase, ADSS and ADSSL1, catalyze the reaction of IMP, aspartate, and GTP to form adenylosuccinate, GDP, and orthophosphate"
UniProt entry Q8N142 (PURA1_HUMAN, ADSS1) - adenylosuccinate synthetase isozyme 1
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ADSS1 catalyzes the Mg2+-dependent, GTP-dependent reaction of IMP with L-aspartate to form adenylosuccinate, GDP and phosphate, the first committed step (step 1 of 2) of the de novo AMP-from-IMP pathway; it is a cytoplasmic homodimer that interacts with the paralog ADSS2.
"N(6)-(1,2-dicarboxyethyl)-AMP + GDP"