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MGP000089

UniProt Annotations

Entry Information
Gene Nameadenylosuccinate lyase
Protein EntryPUR8_HUMAN
UniProt IDP30566
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30566-1; Sequence=Displayed; Name=2; Synonyms=Delta-ADSL; IsoId=P30566-2; Sequence=VSP_000318; Note=Lacks enzymatic activity.;
Catalytic ActivityN(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP.
Catalytic Activity(S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1- (5-phospho-D-ribosyl)imidazole-4-carboxamide.
DiseaseAdenylosuccinase deficiency (ADSL deficiency) [MIM:103050]: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole- carboxamide riboside (SAICA-riboside) and succinyladenosine (S- Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269|PubMed:10090474, ECO:0000269|PubMed:10888601, ECO:0000269|PubMed:12368987, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:1302001, ECO:0000269|PubMed:9266401, ECO:0000269|PubMed:9545543}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationThe enzyme reaction kinetics indicate cooperativity between subunits. {ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634}.
FunctionCatalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.
PathwayPurine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2.
PathwayPurine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5- amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2.
Sequence CautionSequence=AAC60603.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA46697.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the lyase 1 family. Adenylosuccinate lyase subfamily. {ECO:0000305}.
SubunitHomotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site. {ECO:0000269|PubMed:16973378, ECO:0000269|PubMed:22812634}.
Tissue SpecificityUbiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
Web ResourceName=ADSLdb; Note=Adenylosuccinate lyase mutations database; URL="http://www.icp.ucl.ac.be/adsldb/";
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