| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
CATALYTIC ACTIVITY: N(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. PATHWAY: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2. PATHWAY: Purine 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. ALTERNATIVE PRODUCTS: Event=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; TISSUE SPECIFICITY: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1. DISEASE: Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]. ADSL deficiency is 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. SIMILARITY: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. SEQUENCE CAUTION: Sequence=AAC60603.1; Type=Erroneous initiation; Sequence=CAA46697.1; Type=Erroneous initiation; WEB RESOURCE: Name=ADSLdb; Note=Adenylosuccinate lyase mutations database; URL="http://www.icp.ucl.ac.be/adsldb/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADSL"; GENE SYNONYMS:ADSL AMPS. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 484 AA; 54889 MW; 7AA3A0A2C681FD94 CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:291,
urn:biopax:RelationshipXref:NCBI GENE_158,
urn:biopax:RelationshipXref:REFSEQ_NP_000017,
urn:biopax:RelationshipXref:REFSEQ_NP_001116850,
urn:biopax:UnificationXref:UNIPROT_B0QY76,
urn:biopax:UnificationXref:UNIPROT_O75495,
urn:biopax:UnificationXref:UNIPROT_P30566,
urn:biopax:UnificationXref:UNIPROT_Q5TI34
|
| biopax3:displayName |
PUR8_HUMAN
|
| biopax3:name |
4.3.2.2,
ADSL,
ASL,
ASase,
Adenylosuccinase
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL
|
| biopax3:standardName |
Adenylosuccinate lyase
|