Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Adsl. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of June 14, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Adsl
  • is located in the following cellular components:
    • mitochondrion ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Adsl:
  • participates in the following biological processes:
    • aerobic respiration
    • AMP biosynthetic process
    • protein tetramerization
    • purine nucleotide metabolic process
    • response to nutrient
    • ribonucleoside monophosphate biosynthetic process
  • performs the following molecular functions:
    • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
    • N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity
  • is located in the following cellular components:
    • cytoplasm
    • cytosol

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Summary text based on GO annotations supported by structural data

• Adsl encodes a protein or proteins that contain the following InterPro domains: Adenylosuccinate lyase, Adenylosuccinate lyase C-terminal, Delta crystallin, Fumarate lyase, Fumarate lyase, conserved site, L-Aspartase-like, L-Aspartase-like, N-terminal, Lyase 1, N-terminal, indicating that the gene product:
  • participates in the following biological processes:
    • purine ribonucleotide biosynthetic process
  • performs the following molecular functions:
    • catalytic activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Adsl indicates that it:
  • participates in the following biological processes:
    • purine nucleotide biosynthetic process
  • performs the following molecular functions:
    • lyase activity

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References

1. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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