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

GO curators for mouse genes have assigned the following annotations to the gene product of Asl. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Asl
  • participates in the following biological processes:
    • ammonia assimilation cycle ^[1]
    • cellular amino acid metabolic process ^[1]
    • locomotory behavior ^[1]
    • post-embryonic development ^[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 Asl:
  • participates in the following biological processes:
    • argininosuccinate metabolic process
    • internal protein amino acid acetylation
    • liver development
    • urea cycle
  • performs the following molecular functions:
    • argininosuccinate lyase activity
  • is located in the following cellular components:
    • cell body fiber
    • cytoplasm
    • endoplasmic reticulum
    • mitochondrial outer membrane
    • neuronal cell body
    • nucleus
    • perikaryon
    • perinuclear region of cytoplasm

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Summary text based on GO annotations supported by structural data

• Asl encodes a protein or proteins that contain the following InterPro domains: Argininosuccinate lyase, 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:
    • arginine biosynthetic process via ornithine
  • 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 Asl indicates that it:
  • participates in the following biological processes:
    • arginine biosynthetic process
    • cellular amino acid biosynthetic process
  • performs the following molecular functions:
    • lyase activity

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References

1. Reid Sutton V et al. (2003) A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab, 78:11-6. (PubMed:12559843)

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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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