Version 5.4
Homo sapiens Gene: ADSL
Summary
InnateDB Gene IDBG-406802.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ADSL
Gene Name adenylosuccinate lyase
Synonyms AMPS; ASASE; ASL
Species Homo sapiens
Ensembl Gene ENSG00000239900
Encoded Proteins
IDBP-8699
adenylosuccinate lyase
IDBP-8701
adenylosuccinate lyase
IDBP-808998
adenylosuccinate lyase
IDBP-808997
adenylosuccinate lyase
IDBP-808957
adenylosuccinate lyase
IDBP-808984
adenylosuccinate lyase
IDBP-808986
adenylosuccinate lyase
IDBP-808991
adenylosuccinate lyase
IDBP-808992
adenylosuccinate lyase
IDBP-808994
adenylosuccinate lyase
IDBP-808995
adenylosuccinate lyase
IDBP-808999
adenylosuccinate lyase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:40346500-40369367
Strand Forward strand
Band q13.1
Transcripts
ENST00000216194 ENSP00000216194
ENST00000342312 ENSP00000341429
ENST00000423176 ENSP00000485443
ENST00000466863
ENST00000477111
ENST00000480775 ENSP00000485462
ENST00000623632 ENSP00000485288
ENST00000623063 ENSP00000485525
ENST00000624503 ENSP00000485073
ENST00000623978 ENSP00000485477
ENST00000623287 ENSP00000485437
ENST00000624474 ENSP00000485286
ENST00000625194 ENSP00000485289
ENST00000623387
ENST00000624027 ENSP00000485202
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004018 N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity
GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
Biological Process
GO:0001666 response to hypoxia
GO:0006144 purine nucleobase metabolic process
GO:0006163 purine nucleotide metabolic process
GO:0006164 purine nucleotide biosynthetic process
GO:0006167 AMP biosynthetic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0009060 aerobic respiration
GO:0009152 purine ribonucleotide biosynthetic process
GO:0009156 ribonucleoside monophosphate biosynthetic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0014850 response to muscle activity
GO:0042594 response to starvation
GO:0044208 'de novo' AMP biosynthetic process
GO:0044281 small molecule metabolic process
GO:0051262 protein tetramerization
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022407
View Gene Order
ENSBTAG00000000077
Not yet available
Pathways
NETPATH
REACTOME
REACT_1776
Purine ribonucleoside monophosphate biosynthesis pathway
REACT_1698
Metabolism of nucleotides pathway
REACT_522
Purine metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00230
Purine metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Purine nucleotides nucleosides metabolism pathway
INOH website
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.75527
RefSeq NM_000026 NM_001123378
HUGO
OMIM
CCDS CCDS14001 CCDS46714
HPRD 00049
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca