ASL (argininosuccinate lyase)

2012-01-01  

Identity

HGNC
LOCATION
7q11.21
LOCUSID
ALIAS
ASAL
FUSION GENES

Other Information

Locus ID:

NCBI: 435
MIM: 608310
HGNC: 746
Ensembl: ENSG00000126522

Variants:

dbSNP: 435
ClinVar: 435
TCGA: ENSG00000126522
COSMIC: ASL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126522ENST00000304874P04424
ENSG00000126522ENST00000304874A0A024RDL8
ENSG00000126522ENST00000362000F8W943
ENSG00000126522ENST00000380839P04424
ENSG00000126522ENST00000380839A0A0S2Z316
ENSG00000126522ENST00000395331P04424
ENSG00000126522ENST00000395332P04424
ENSG00000126522ENST00000395332A0A024RDL8
ENSG00000126522ENST00000673518A0A0S2Z316

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Urea cycleKEGGhsa_M00029
Urea cycleKEGGM00029
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166176020sodium benzoate / sodium phenylacetateChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
173260972007Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.16
197039002009Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.16
123847762002Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.13
124081902002Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.12
241668292014Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.11
117474322001Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.6
257789382015Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.5
278409802017Silencing of argininosuccinate lyase inhibits colorectal cancer formation.5
216670912012Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.4
263977372015Argininosuccinate lyase is a potential therapeutic target in breast cancer.4

Citation

Dessen P

ASL (argininosuccinate lyase)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52543/asl