InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASL

Summary

InnateDB Protein

IDBP-18486.6

Last Modified

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

Gene Symbol

ASL

Protein Name

argininosuccinate lyase

Synonyms

ASAL;

Species

Homo sapiens

Ensembl Protein

ENSP00000307188

InnateDB Gene

IDBG-18570 (ASL)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

Argininosuccinic aciduria (ARGINSA) [MIM:207900]: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. {ECO:0000269PubMed:12408190, ECO:0000269PubMed:1705937, ECO:0000269PubMed:17326097, ECO:0000269PubMed:2263616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004056	argininosuccinate lyase activity

Biological Process

GO:0000050	urea cycle
GO:0006475	internal protein amino acid acetylation
GO:0006527	arginine catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0042450	arginine biosynthetic process via ornithine
GO:0044281	small molecule metabolic process