InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASS1

Summary

InnateDB Protein

IDBP-89477.6

Last Modified

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

Gene Symbol

ASS1

Protein Name

argininosuccinate synthase 1

Synonyms

ASS; CTLN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000253004

InnateDB Gene

IDBG-89475 (ASS1)

Protein Structure

UniProt Annotation

Function

Is indirectly involved in the control of blood pressure. {ECO:0000250}.

Subcellular Localization

Disease Associations

Citrullinemia 1 (CTLN1) [MIM:215700]: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269PubMed:11708871, ECO:0000269PubMed:11941481, ECO:0000269PubMed:12815590, ECO:0000269PubMed:14680976, ECO:0000269PubMed:16475226, ECO:0000269PubMed:1943692, ECO:0000269PubMed:2358466, ECO:0000269PubMed:7977368}. 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 42 experimentally validated interaction(s) in this database.

Experimentally validated
Total	42 [view]
Protein-Protein	42 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004055	argininosuccinate synthase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016597	amino acid binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000050	urea cycle
GO:0000052	citrulline metabolic process
GO:0000053	argininosuccinate metabolic process
GO:0006526	arginine biosynthetic process
GO:0006531	aspartate metabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0071499	cellular response to laminar fluid shear stress
GO:1903038	negative regulation of leukocyte cell-cell adhesion