ADSL (adenylosuccinate lyase)

2019-04-01  

Identity

HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
AMPS,ASASE,ASL
FUSION GENES

Other Information

Locus ID:

NCBI: 158
MIM: 608222
HGNC: 291
Ensembl: ENSG00000239900

Variants:

dbSNP: 158
ClinVar: 158
TCGA: ENSG00000239900
COSMIC: ADSL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000239900ENST00000216194A0A0A6YY92
ENSG00000239900ENST00000342312P30566
ENSG00000239900ENST00000423176A0A096LP76
ENSG00000239900ENST00000480775A0A096LP92
ENSG00000239900ENST00000498234V9GY96
ENSG00000239900ENST00000623063P30566
ENSG00000239900ENST00000623063X5D8S6
ENSG00000239900ENST00000623287A0A096LP72
ENSG00000239900ENST00000623632A0A096LNY5
ENSG00000239900ENST00000623978A0A096LPA2
ENSG00000239900ENST00000624027A0A096LNT0
ENSG00000239900ENST00000624474A0A096LNY4
ENSG00000239900ENST00000624503B4DEP1
ENSG00000239900ENST00000625194A0A096LNY6
ENSG00000239900ENST00000636265A0A1B0GWF8
ENSG00000239900ENST00000636714A0A1B0GWJ0
ENSG00000239900ENST00000637666A0A1B0GTG9
ENSG00000239900ENST00000637669A0A1B0GTJ7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGhsa_M00048
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGM00048
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGhsa_M00049
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221804582012Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
185246582008Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.13
171886152007Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.10
169733782007Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase.9
125905702003Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role.8
154718762004Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.8
128333982003Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.7
194054742009Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.7
186490082008D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.6

Citation

Dessen P

ADSL (adenylosuccinate lyase)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57969/adsl