Version 5.4
Homo sapiens Gene: ASS1
Summary
InnateDB Gene IDBG-89475.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASS1
Gene Name argininosuccinate synthase 1
Synonyms ASS; CTLN1
Species Homo sapiens
Ensembl Gene ENSG00000130707
Encoded Proteins
IDBP-89477
argininosuccinate synthase 1
IDBP-89479
argininosuccinate synthase 1
IDBP-89483
argininosuccinate synthase 1
IDBP-382519
argininosuccinate synthase 1
IDBP-382521
argininosuccinate synthase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:130444929-130501274
Strand Forward strand
Band q34.11
Transcripts
ENST00000352480 ENSP00000253004
ENST00000372394 ENSP00000361471
ENST00000372393 ENSP00000361469
ENST00000372386
ENST00000422569 ENSP00000394212
ENST00000443588 ENSP00000397785
ENST00000467695
ENST00000493984
ENST00000492400
ENST00000470849
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:0004066 asparagine synthase (glutamine-hydrolyzing) 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:0006529 asparagine 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
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_847
Urea cycle pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00330
Arginine and proline metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Arginine Proline metabolism pathway
INOH website
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt P00966
TrEMBL Q5T6L4 Q5T6L5 Q5T6L6 Q8NFZ7
UniProt Splice Variant
Entrez Gene 445
UniGene Hs.160786 Hs.605582
RefSeq NM_000050 NM_054012 XM_005272199 XM_005272200
HUGO HGNC:758
OMIM 603470
CCDS CCDS6933
HPRD
IMGT
EMBL AF363662 AK027126 AK315093 AL354898 AY034076 BC009243 BC021676 CH471090 L00079 L00080 L00081 L00082 L00083 L00084 M34903 X01630
GenPept AAA51782 AAA51783 AAH09243 AAH21676 AAK67487 AAM60751 BAG37558 CAA25771 EAW87932 EAW87935
RNA Seq Atlas 445

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca