InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ADSL

Summary

InnateDB Protein

IDBP-8699.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ADSL

Protein Name

adenylosuccinate lyase

Synonyms

AMPS; ASASE; ASL;

Species

Homo sapiens

Ensembl Protein

ENSP00000216194

InnateDB Gene

IDBG-406802 (ADSL)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Disease Associations

Adenylosuccinase 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:0000269PubMed:10090474, ECO:0000269PubMed:10888601, ECO:0000269PubMed:12368987, ECO:0000269PubMed:12833398, ECO:0000269PubMed:1302001, ECO:0000269PubMed:9266401, ECO:0000269PubMed:9545543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.

Comments

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:0016829	lyase activity
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006167	AMP biosynthetic process
GO:0006189	'de novo' IMP biosynthetic process
GO:0008152	metabolic process
GO:0009152	purine ribonucleotide biosynthetic process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process
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:0005737	cytoplasm
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000362 Fumarate lyase family
IPR004769 Adenylosuccinate lyase
IPR008948 L-Aspartase-like
IPR019468 Adenylosuccinate lyase C-terminal
IPR022761 Fumarate lyase, N-terminal

PFAM

PF10397
PF00206

PRINTS

PR00149

PIRSF

SMART

SM00998

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt