Property Summary

NCBI Gene PubMed Count 38
Grant Count 198
R01 Count 130
Funding $39,803,988.19
PubMed Score 1721.14
PubTator Score 254.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.100 0.000
glioblastoma 1.200 0.005
medulloblastoma, large-cell 1.300 0.000
lung cancer 1.700 0.001
sonic hedgehog group medulloblastoma 1.500 0.000
acute myeloid leukemia -1.300 0.040
ovarian cancer 2.100 0.000

Synonym

Accession P30566 B0QY76 O75495 Q5TI34 ADSL
Symbols ASL
AMPS
ASASE

Gene

PANTHER Protein Class (1)

PDB

2J91   2VD6   4FFX   4FLC  

 GO Component (2)

Gene RIF (16)

PMID Text
23714113 Missense mutations in the adenylosuccinate lyase is associated with Adenylosuccinate lyase deficiency, an inborn error of purine metabolism characterized by neurological and physiological symptoms.
22812634 structural and biochemical characterization data of WT and mutant R303C ADSL by enzyme kinetics, product binding by isothermal titration calorimetry and X-ray crystallography to reveal the effects of the R303C mutation that results in a nonparallel reduction in enzyme activity
22180458 Results proved in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency that various mutations of ADSL destabilize to various degrees purinosome assembly and found that the ability to form purinosomes correlates with clinical phenotypes of individual ADSL patients.
20933180 the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency
20877624 Observational study of gene-disease association. (HuGE Navigator)
20177786 Case Report: Malaysian patient compound heterozygous for two novel ADSL mutations giving rise to adenylosuccinate lyase deficiency.
19405474 Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
18649008 D-ribose administration in Polish patients with adenylosuccinate lyase deficiency was accompanied by neither reduction in seizure frequency nor growth enhancement.
18524658 Analysis of the ADSL gene showed a R426H mutation in four unrelated patients with metabolic diseases.
17188615 ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy.
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AA Sequence

MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLE      1 - 70
NIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVIS     71 - 140
RLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQ    141 - 210
LFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEE    211 - 280
PFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADT    281 - 350
ILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD    351 - 420
NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL          421 - 484
//

Text Mined References (44)

PMID Year Title
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23714113 2013 Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22812634 2012 Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
22180458 2012 Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
21269460 2011 Initial characterization of the human central proteome.
20933180 2010 Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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