InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASS1

Summary

InnateDB Protein

IDBP-89479.6

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

ENSP00000361471

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:0015643	toxic substance 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:0001101	response to acid
GO:0001822	kidney development
GO:0001889	liver development
GO:0006526	arginine biosynthetic process
GO:0006531	aspartate metabolic process
GO:0006953	acute-phase response
GO:0007494	midgut development
GO:0007568	aging
GO:0007584	response to nutrient
GO:0010043	response to zinc ion
GO:0010046	response to mycotoxin
GO:0014075	response to amine
GO:0032355	response to estradiol
GO:0032496	response to lipopolysaccharide
GO:0034641	cellular nitrogen compound metabolic process
GO:0042493	response to drug
GO:0043200	response to amino acid
GO:0043434	response to peptide hormone
GO:0044281	small molecule metabolic process
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0048545	response to steroid hormone
GO:0051384	response to glucocorticoid
GO:0060416	response to growth hormone
GO:0060539	diaphragm development
GO:0070542	response to fatty acid
GO:0071222	cellular response to lipopolysaccharide
GO:0071230	cellular response to amino acid stimulus
GO:0071242	cellular response to ammonium ion
GO:0071320	cellular response to cAMP
GO:0071346	cellular response to interferon-gamma
GO:0071356	cellular response to tumor necrosis factor
GO:0071377	cellular response to glucagon stimulus
GO:0071400	cellular response to oleic acid
GO:0071418	cellular response to amine stimulus
GO:0071499	cellular response to laminar fluid shear stress
GO:0071549	cellular response to dexamethasone stimulus
GO:1903038	negative regulation of leukocyte cell-cell adhesion

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005741	mitochondrial outer membrane
GO:0005764	lysosome
GO:0005783	endoplasmic reticulum
GO:0005829	cytosol
GO:0043005	neuron projection
GO:0043025	neuronal cell body
GO:0043204	perikaryon
GO:0070062	extracellular vesicular exosome
GO:0070852	cell body fiber