Property Summary

NCBI Gene PubMed Count 72
PubMed Score 169.06
PubTator Score 97.15

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Diabetic Angiopathies 7
Disease Target Count P-value
Duchenne muscular dystrophy 602 1.89130769343186E-10
pituitary cancer 1972 2.96077474682025E-8
posterior fossa group A ependymoma 1511 1.31097568019067E-7
malignant mesothelioma 3163 1.56914508858095E-7
ulcerative colitis 2087 8.87174444263325E-6
ovarian cancer 8492 9.65539281369068E-6
pilocytic astrocytoma 3086 1.83477047627797E-4
Breast cancer 3099 1.89506822162945E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 1.92637675320505E-4
limb girdle muscular dystrophy 2B 74 1.9836428612108E-4
group 3 medulloblastoma 2254 9.39535713576869E-4
lung cancer 4473 0.00101447477958821
active Crohn's disease 918 0.00107898788737211
interstitial cystitis 2299 0.00131883812260064
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00191507912517301
cutaneous lupus erythematosus 1056 0.00368303918494645
astrocytic glioma 2241 0.00451267172966106
oligodendroglioma 2849 0.00869616166705154
nasopharyngeal carcinoma 1056 0.00929936717821981
nephrosclerosis 329 0.0156997361318127
urothelial carcinoma 318 0.0161643374781861
primary pancreatic ductal adenocarcinoma 1271 0.0175154466839911
adult high grade glioma 2148 0.0180275817261607
fibroadenoma 557 0.0330702725239854
esophageal adenocarcinoma 737 0.0347750923834604
pancreatic cancer 2300 0.0398517001760996
Barrett's esophagus 185 0.0421445169137615
acute myeloid leukemia 785 0.0445833157590575
Disease Target Count Z-score Confidence
Citrullinemia 13 0.0 5.0
Disease Target Count
Citrullinemia type I 1
Disease Target Count
Citrullinemia 1 1

Expression

Synonym

Accession P00966 Q6LDL2 Q86UZ0 Q96GT4
Symbols ASS
CTLN1

Gene

PANTHER Protein Class (1)

PDB

2NZ2  

  Ortholog (13)

 OMIM Term (1)

Gene RIF (41)

PMID Text
26982031 results show that ASS1 is elevated at the mRNA and protein levels in mesothelioma 3D spheroids and in human pleural mesotheliomas. We also have uncovered a survival role for ASS1
26895070 ASS1 genomic variants (rs10901080 and rs10793902) can serve as pharmacogenomic biomarkers to predict hydroxyurea treatment efficacy in sickle cell disease/beta-thalassemia compound heterozygous patients.
26560030 results demonstrate that ASS1 downregulation is a novel mechanism supporting cancerous proliferation, and they provide a metabolic link between the urea cycle enzymes and pyrimidine synthesis
25548129 More than 50 % of the high-grade pulmonary neuroendocrine carcinomas tested lack immunohistochemically detectable ASS, suggesting that they are auxotrophic for arginine and potential candidates for arginine deprivation therapy.
25333458 ASS expression in gastric cancer was associated with a poor prognosis.
25179242 Three novel splicing and missense mutations have been identified in the ASS1 gene in classical citrullinemia patients.
24927999 Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia.
24692592 Data indicate that argininosuccinate synthetase 1 (ASS1) abundance is a prognostic factor for overall breast cancer survival.
24508627 we reviewed the English literature on mutations in the ASS and SLC25A13 genes, and their genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia--{REVIEW}
24297925 Together with the observation that AS1 protein and mRNA levels decrease during wild-type infection, this work suggests that reduced AS1 activity is partially responsible for the metabolic program induced by infection.
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AA Sequence

MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVE      1 - 70
EFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIK     71 - 140
VIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKT    141 - 210
QDPAKAPNTPDILEIEFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRG    211 - 280
IYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQ    281 - 350
VSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK            351 - 412
//

Text Mined References (80)

PMID Year Title
26982031 2016 Analysis of Gene Expression in 3D Spheroids Highlights a Survival Role for ASS1 in Mesothelioma.
26895070 2016 Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/?-thalassemia patients.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26560030 2015 Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.
25548129 2015 Argininosuccinate synthetase (ASS) deficiency in high-grade pulmonary neuroendocrine carcinoma: an opportunity for personalized targeted therapy.
25416956 2014 A proteome-scale map of the human interactome network.
25333458 2015 Increased expression of argininosuccinate synthetase protein predicts poor prognosis in human gastric cancer.
25179242 2015 Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
24927999 2014 [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
24692592 2014 Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.
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