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ADSL adenylosuccinate lyase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000026 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001123378 Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol ADSL
Entrez Gene ID 158
Full Name adenylosuccinate lyase
Synonyms AMPS, ASASE, ASL
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q13.2

Summary Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 608222

Adenylosuccinase deficiency, 103050 (3)

mRNA Protein Product Sequence Price Select
NM_000026, 183227686 NP_000017, 4557269 adenylosuccinate lyase isoform a ORF Sequence $360.00
NM_001123378, 183227687 NP_001116850, 183227688 adenylosuccinate lyase isoform b ORF Sequence $550.00
KEGG
hsa00230Purine metabolism
hsa00250Alanine, aspartate and glutamate metabolism
hsa_M00048Inosine monophosphate biosynthesis, PRPP + glutamine => IMP
hsa_M00049Adenine ribonucleotide biosynthesis, IMP => ADP,ATP
WikiPathways
WP404Nucleotide Metabolism
Reactome
REACT_522Purine metabolism
REACT_1776Purine ribonucleoside monophosphate biosynthesis
REACT_1698Metabolism of nucleotides
REACT_111217Metabolism
Homo sapiens (human)ADSLNP_000017.1
Pan troglodytes (chimpanzee)ADSLXP_003317301.1
Canis lupus familiaris (dog)ADSLXP_531727.4
Bos taurus (cattle)ADSLNP_001095847.1
Mus musculus (house mouse)AdslNP_033764.2
Rattus norvegicus (Norway rat)AdslNP_001123975.1
Gallus gallus (chicken)ADSLNP_990860.1
Danio rerio (zebrafish)adslNP_956193.2
Drosophila melanogaster (fruit fly)CG3590NP_650586.2
Xenopus (Silurana) tropicalis (western clawed frog)adslNP_001005457.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIEA
GO:0006144purine nucleobase metabolic processTAS
GO:0006164purine nucleotide biosynthetic processIC
GO:0006167AMP biosynthetic processIDA
GO:0006189'de novo' IMP biosynthetic processIEA
GO:0007584response to nutrientIEA
GO:0008152metabolic processIDA
GO:0009060aerobic respirationIEA
GO:0009168purine ribonucleoside monophosphate biosynthetic processTAS
GO:0014850response to muscle activityIEA
GO:0042594response to starvationIEA
GO:0044208'de novo' AMP biosynthetic processIEA
GO:0044281small molecule metabolic processTAS
GO:0051262protein tetramerizationIDA
GO:0055086nucleobase-containing small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005739mitochondrionIEA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0004018N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activityIDA
GO:0004018N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activityIDA
GO:0004018N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activityTAS
GO:0070626(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activityIEA
GeneCards ADSL
UniProt X5D8S6, P30566
MIM 608222
Ensembl ENSG00000239900
HGNC 291
HPRD 00049

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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