ADSL
entrez
158
canonical
uniprot
P30566
canonical
ensembl
ENSG00000239900
resolver
ensp
ENSP00000341429
resolver
ensp
ENSP00000485525
resolver
ensp
ENSP00000489696
resolver
ensp
ENSP00000490946
resolver
ensp
ENSP00000505155
resolver
ensp
ENSP00000505244
resolver
ensp
ENSP00000562570
resolver
enst
ENST00000636714
resolver
enst
ENST00000637666
resolver
enst
ENST00000679723
resolver
enst
ENST00000680978
resolver
genesymbol
ADSL
resolver
genesymbol_syn
AMPS
resolver
hgnc
HGNC:291
resolver
uniprot
A0A1B0GTG9
resolver
uniprot
A0A1B0GWJ0
resolver
uniprot
A0A7P0T8E4
resolver
uniprot
A0A7P0Z472
resolver
uniprot
B0QY76
resolver
uniprot
O75495
resolver
uniprot
Q5TI34
resolver
uniprot
X5D7W4
resolver
uniprot
X5D8S6
resolver
uniprot_entry
A0A1B0GTG9_HUMAN
resolver
uniprot_entry
A0A1B0GWJ0_HUMAN
resolver
uniprot_entry
A0A7P0T8E4_HUMAN
resolver
uniprot_entry
A0A7P0Z472_HUMAN
resolver
uniprot_entry
PUR8_HUMAN
resolver
uniprot_entry
X5D7W4_HUMAN
resolver
uniprot_entry
X5D8S6_HUMAN
resolver
uniprot_sec
B0QY76
resolver
uniprot_sec
O75495
resolver
uniprot_sec
Q5TI34
resolver
activity_regulation
ACTIVITY REGULATION: The enzyme reaction kinetics indicate cooperativity between subunits. {ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634}.
uniprot
proteins
amino_acid_sequence
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL
uniprot
proteins
disease_involvement
DISEASE: Adenylosuccinase deficiency (ADSLD) [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:10958654, ECO:0000269|PubMed:12016589, ECO:0000269|PubMed:12070256, ECO:0000269|PubMed:12368987, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:1302001, ECO:0000269|PubMed:16839792, ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634, ECO:0000269|PubMed:9266401, ECO:0000269|PubMed:9545543}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.3.2.2
uniprot
proteins
function
FUNCTION: Catalyzes 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. {ECO:0000269|PubMed:10888601}.
uniprot
proteins
mass_dalton
54889
uniprot
proteins
pathway_participation
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.
uniprot
proteins
protein_family
Adenylosuccinate lyase subfamily
uniprot
proteins
protein_family
Lyase 1 family
uniprot
proteins
pubmed
10090474
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10888601
uniprot
proteins
pubmed
10958654
uniprot
proteins
pubmed
12016589
uniprot
proteins
pubmed
12070256
uniprot
proteins
pubmed
12368987
uniprot
proteins
pubmed
12833398
uniprot
proteins
pubmed
1302001
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16839792
uniprot
proteins
pubmed
16973378
uniprot
proteins
pubmed
19405474
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22812634
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
8404037
uniprot
proteins
pubmed
9266401
uniprot
proteins
pubmed
9545543
uniprot
proteins
sequence_length
484
uniprot
proteins