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Tbio
ASS1
Argininosuccinate synthase

Protein Classes
Protein Summary
Description
One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000352480
  • ENSP00000253004
  • ENSG00000130707
  • ENST00000372393
  • ENSP00000361469
  • ENST00000372394
  • ENSP00000361471

Symbol
  • ASS
  • ASS
  • CTLN1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.98
biological process
0.97
transcription factor perturbation
0.97
molecular function
0.96
PubMedID
0.93


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 269.08   (req: < 5)
Gene RIFs: 58   (req: <= 3)
Antibodies: 416   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 269.08   (req: >= 5)
Gene RIFs: 58   (req: > 3)
Antibodies: 416   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 36
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
3
2
4
93.2
bone density
1
1
1
2.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
4
93.2
bone density
1
2.4
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
argininosuccinate synthase 1
VGNC:4621
743223
Macaque
argininosuccinate synthase
702037
Mouse
MGI:88090
11898
Rat
RGD:2163
25698
Dog
argininosuccinate synthase 1
VGNC:38193
480693
Species
Name
OMA
EggNOG
Inparanoid
Chimp
argininosuccinate synthase 1
Macaque
argininosuccinate synthase
Mouse
Rat
Dog
argininosuccinate synthase 1
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P00966-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (22)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Reactome
Urea cycle
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of amino acids and derivatives
Urea cycle
Gene Ontology Terms (46)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Mutant Phenotype (IMP)
BHF-UCL
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (188)
1 – 10 of 188
PC
Tbio
Family: Enzyme
Novelty: 0.00271694
p_int: 0.999515706
p_ni: 0.000484294
Score: 0.66
Data Source: BioPlex,STRINGDB
CA10
Tbio
Family: Enzyme
Novelty: 0.01053152
p_int: 0.998622124
p_ni: 0.001377876
Score: 0.207
Data Source: BioPlex,STRINGDB
TMEM184A
Tbio
Novelty: 0.16408207
p_int: 0.997725303
p_ni: 0.002274697
Score: 0.165
Data Source: BioPlex,STRINGDB
MPC1
Tbio
Novelty: 0.01315849
p_int: 0.985499765
p_ni: 0.014500235
Data Source: BioPlex
SIRT3
Tchem
Family: Epigenetic
Novelty: 0.00101187
p_int: 0.931149838
p_ni: 0.068850162
Score: 0.222
Data Source: BioPlex,STRINGDB
ZNF354C
Tdark
Family: TF
Novelty: 0.09978239
p_int: 0.793796255
p_ni: 0.206203745
Score: 0.187
Data Source: BioPlex,STRINGDB
ASL
Tbio
Family: Enzyme
Novelty: 0.00624709
Score: 0.999
Data Source: STRINGDB
OTC
Tchem
Family: Enzyme
Novelty: 0.00544004
Score: 0.999
Data Source: STRINGDB
CPS1
Tclin
Family: Enzyme
Novelty: 0.00917469
Score: 0.995
Data Source: STRINGDB
ASNS
Tchem
Family: Enzyme
Novelty: 0.00337445
Score: 0.993
Data Source: STRINGDB
Publication Statistics
PubMed Score  269.08

PubMed score by year
PubTator Score  153.69

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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