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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ASS1
argininosuccinate synthase 1
Chromosome 9 Β· 9q34.11
NCBI Gene: 445Ensembl: ENSG00000130707.19HGNC: HGNC:758UniProt: P00966
179PubMed Papers
21Diseases
0Drugs
229Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingcircadian rhythmpositive regulation of nitric oxide biosynthetic processextracellular exosomecitrullinemia type Icitrullinemiagenetic disorderIntellectual disability
✦AI Summary

ASS1 (argininosuccinate synthase 1) is a key urea cycle enzyme catalyzing the conversion of citrulline, aspartate, and ATP into argininosuccinate, thereby detoxifying ammonia produced during protein catabolism and enabling arginine biosynthesis in tissues 1. Beyond classical urea cycle function, ASS1 plays critical roles in immune regulation and cellular metabolism. In macrophages, ASS1-mediated citrulline depletion is required for proinflammatory activation through JAK2-STAT1 signaling, with citrulline acting as an innate immune-signaling metabolite 2. ASS1 expression increases following inflammatory stimuli, supporting an aspartate-argininosuccinate metabolic shunt that influences interferon responses 3. In cancer biology, ASS1 downregulation contributes to poor prognosis by diverting aspartate toward pyrimidine synthesis; conversely, ASS1 supports p53-mediated DNA damage responses through nuclear succination of chr9 remodeling complexes and cytosolic nucleotide restriction 4. ASS1 also confers ferroptosis resistance in lung cancer through glutamine reductive carboxylation and de novo fatty acid synthesis 5. Loss-of-function mutations in ASS1 cause citrullinemia type 1, an autosomal recessive urea cycle disorder with variable phenotypes ranging from neonatal hyperammonemia to asymptomatic presentations; residual ASS1 activity reliably predicts disease severity 16. Recent evidence suggests ASS1 inhibition may benefit inflammatory conditions including ulcerative colitis 7.

Sources cited
1
ASS1 catalyzes argininosuccinate formation in the urea cycle; mutations cause citrullinemia type 1 with variable phenotypes from neonatal hyperammonemia to asymptomatic disease
PMID: 28111830
2
ASS1-mediated citrulline depletion is required for proinflammatory macrophage activation via JAK2-STAT1 signaling; citrulline is an innate immune-signaling metabolite
PMID: 35016033
3
ASS1 expression increases following LPS stimulation and supports an aspartate-argininosuccinate shunt that influences macrophage interferon responses
PMID: 36890227
4
ASS1 loss promotes DNA damage and mutagenesis through aspartate diversion; ASS1 supports p53-mediated DNA damage responses via nuclear succination and cytosolic nucleotide restriction
PMID: 38858597
5
ASS1 confers ferroptosis resistance in lung cancer through reductive carboxylation of glutamine and de novo monounsaturated fatty acid synthesis
PMID: 36892426
6
Residual enzymatic ASS1 activity reliably predicts phenotypic severity in citrullinemia type 1, with ≀8% activity associated with more severe hyperammonemia and lower cognitive function
PMID: 31469252
7
ASS1 is elevated in ulcerative colitis patients; ASS1 inhibition alleviates experimental colitis through suppression of mTOR and iNOS activation
PMID: 40739098
Disease Associationsβ“˜21
citrullinemia type IOpen Targets
0.85Strong
citrullinemiaOpen Targets
0.75Strong
genetic disorderOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.37Weak
acute neonatal citrullinemia type IOpen Targets
0.37Weak
adult-onset citrullinemia type IOpen Targets
0.37Weak
disturbances of sensation of smell and tasteOpen Targets
0.35Weak
citrullinemia type IIOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.34Weak
neuroinflammatory disorderOpen Targets
0.33Weak
partial epilepsyOpen Targets
0.32Weak
muscular diseaseOpen Targets
0.32Weak
Pathologic fractureOpen Targets
0.31Weak
cardiac arrhythmiaOpen Targets
0.27Weak
glycogen storage disease due to glucose-6-phosphatase deficiency type IAOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
liver diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.23Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
Citrullinemia 1UniProt
Pathogenic Variants229
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)Likely pathogenic
Citrullinemia|Citrullinemia type I|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 96
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)Pathogenic
Citrullinemia type I|not provided|Citrullinemia|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 390
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)Pathogenic
Citrullinemia type I|Citrullinemia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 86
NM_054012.4(ASS1):c.773+4A>CPathogenic
Citrullinemia|Citrullinemia type I|ASS1-related disorder
β˜…β˜…β˜†β˜†2026
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)Pathogenic
Citrullinemia type I|not provided|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 363
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)Likely pathogenic
Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 258
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)Pathogenic
Citrullinemia type I|Citrullinemia|not provided|ASS1-related disorder|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2026β†’ Residue 324
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)Pathogenic
not provided|Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 283
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)Pathogenic
not provided|Citrullinemia|Citrullinemia type I|ASS1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 363
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)Pathogenic
Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 157
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)Likely pathogenic
Citrullinemia|Citrullinemia type I
β˜…β˜…β˜†β˜†2026β†’ Residue 304
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)Pathogenic
Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 344
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)Pathogenic
Citrullinemia type I|Citrullinemia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 14
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)Pathogenic
Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 191
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)Pathogenic
Citrullinemia type I|not provided|Citrullinemia
β˜…β˜…β˜†β˜†2026β†’ Residue 279
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)Pathogenic
Citrullinemia, mild|not provided|Citrullinemia type I|Citrullinemia|ASS1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 179
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)Pathogenic
Citrullinemia type I|Citrullinemia|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 118
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)Pathogenic
Citrullinemia type I|Citrullinemia
β˜…β˜…β˜†β˜†2025β†’ Residue 272
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)Pathogenic
Citrullinemia type I|not provided|Citrullinemia
β˜…β˜…β˜†β˜†2025β†’ Residue 304
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)Pathogenic
Citrullinemia|Citrullinemia type I
β˜…β˜…β˜†β˜†2025β†’ Residue 124
View on ClinVar β†—
Related Genes
ACY1Protein interaction100%ARG1Protein interaction100%ARG2Protein interaction100%ASLProtein interaction100%OATProtein interaction99%AZIN2Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
4%
Heart
4%
Lung
3%
Brain
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASS1ACY1ARG1ARG2ASLOATAZIN2
PROTEIN STRUCTURE
Preparing viewer…
PDB2NZ2 Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.74–1.14]
RankingsWhere ASS1 stands among ~20K protein-coding genes
  • #2,425of 20,598
    Most Researched179 Β· top quartile
  • #281of 5,498
    Most Pathogenic Variants229 Β· top 10%
  • #11,824of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedASS1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma.
PMID: 35256934
Acta Pharm Sin B Β· 2022
1.00
2
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
PMID: 28111830
Hum Mutat Β· 2017
0.90
3
Macrophage fumarate hydratase restrains mtRNA-mediated interferon production.
PMID: 36890227
Nature Β· 2023
0.80
4
Citrulline depletion by ASS1 is required for proinflammatory macrophage activation and immune responses.
PMID: 35016033
Mol Cell Β· 2022
0.70
5
Role of Argininosuccinate Synthase 1 -Dependent L-Arginine Biosynthesis in the Protective Effect of Endothelial Sirtuin 3 Against Atherosclerosis.
PMID: 38233193
Adv Sci (Weinh) Β· 2024
0.64