Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASL Gene

Aliases for ASL Gene

  • Argininosuccinate Lyase 2 3 5
  • Arginosuccinase 3 4
  • EC 4.3.2.1 4 56
  • ASAL 3 4
  • Argininosuccinase 3

External Ids for ASL Gene

Previous GeneCards Identifiers for ASL Gene

  • GC07P064180
  • GC07P064938
  • GC07P064952
  • GC07P064984
  • GC07P065178
  • GC07P065540
  • GC07P061727

Summaries for ASL Gene

Entrez Gene Summary for ASL Gene

  • This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASL Gene

ASL (Argininosuccinate Lyase) is a Protein Coding gene. Diseases associated with ASL include Argininosuccinic Aciduria and Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include argininosuccinate lyase activity. An important paralog of this gene is ENSG00000249319.

Additional gene information for ASL Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASL Gene

Genomics for ASL Gene

GeneHancer (GH) Regulatory Elements for ASL Gene

Promoters and enhancers for ASL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I066075 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.9 944 3.1 HDGF SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A YY1 POLR2B ZNF143 ASL LOC100996437 VKORC1L1 RABGEF1 TPST1 GC07P066070 ENSG00000249319
GH07I066144 Enhancer 1.3 FANTOM5 Ensembl ENCODE 3 +73.3 73255 9.1 FOXA2 ARID4B RAD21 RARA YY1 RCOR1 ETV6 FOS RUNX3 RXRA LOC100996437 VKORC1L1 GS1-124K5.4 RABGEF1 ENSG00000229180 TPST1 ASL GC07P066141 PIR31229 ENSG00000234185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASL gene promoter:

Genomic Locations for ASL Gene

Genomic Locations for ASL Gene
chr7:66,075,789-66,093,558
(GRCh38/hg38)
Size:
17,770 bases
Orientation:
Plus strand
chr7:65,540,776-65,558,545
(GRCh37/hg19)

Genomic View for ASL Gene

Genes around ASL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASL Gene

Proteins for ASL Gene

  • Protein details for ASL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04424-ARLY_HUMAN
    Recommended name:
    Argininosuccinate lyase
    Protein Accession:
    P04424
    Secondary Accessions:
    • E7EMI0
    • E9PE48
    • Q6LDS5
    • Q96HS2

    Protein attributes for ASL Gene

    Size:
    464 amino acids
    Molecular mass:
    51658 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA51786.1; Type=Frameshift; Positions=387, 452; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASL Gene

    Alternative splice isoforms for ASL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASL Gene

Selected DME Specific Peptides for ASL Gene

P04424:
  • HTGRSRN
  • LNSMDATSERDF
  • RSRNDQVVTD
  • DAYSTGSS
  • QGSKAYSRGLEKAGLLTKAEM
  • RLKELIG
  • LSHAVAL
  • ATGVISTL
  • KLWGGRF
  • GVISTLQI
  • YTHLQRA
  • HTANERRL
  • DEDIHTA
  • MTLKGLP
  • HLSRMAE
  • MPQKKNPD
  • AEFLFWASLCMTHLS
  • LPLGSGA
  • GSSLMPQKKN
  • ALSPDMLATD
  • DLQEDKE
  • PQKKNPDSLELIRSKAGRVFGR

Post-translational modifications for ASL Gene

  • Acetylation modifies enzyme activity in response to alterations of extracellular nutrient availability. Acetylation increased with trichostin A (TSA) or with nicotinamide (NAM). Glucose increases acetylation by about a factor of 3 with decreasing enzyme activity. Acetylation on Lys-288 is decreased on the addition of extra amino acids resulting in activation of enzyme activity.

Domains & Families for ASL Gene

Gene Families for ASL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ASL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04424

UniProtKB/Swiss-Prot:

ARLY_HUMAN :
  • Belongs to the lyase 1 family. Argininosuccinate lyase subfamily.
Family:
  • Belongs to the lyase 1 family. Argininosuccinate lyase subfamily.
genes like me logo Genes that share domains with ASL: view

Function for ASL Gene

Molecular function for ASL Gene

GENATLAS Biochemistry:
argininosuccinate lyase,cytosolic,urea cycle
UniProtKB/Swiss-Prot CatalyticActivity:
2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is regulated by acetylation.

Enzyme Numbers (IUBMB) for ASL Gene

Phenotypes From GWAS Catalog for ASL Gene

Gene Ontology (GO) - Molecular Function for ASL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004056 argininosuccinate lyase activity IBA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity IEA --
GO:0042802 identical protein binding IPI 21988832
genes like me logo Genes that share ontologies with ASL: view
genes like me logo Genes that share phenotypes with ASL: view

Human Phenotype Ontology for ASL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASL Gene

MGI Knock Outs for ASL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ASL Gene

Localization for ASL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASL gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 282632
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with ASL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASL Gene

Pathways & Interactions for ASL Gene

genes like me logo Genes that share pathways with ASL: view

UniProtKB/Swiss-Prot P04424-ARLY_HUMAN

  • Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 3/3.
  • Pathway: Nitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1.

Gene Ontology (GO) - Biological Process for ASL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0006526 arginine biosynthetic process IEA --
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0042450 arginine biosynthetic process via ornithine IBA --
genes like me logo Genes that share ontologies with ASL: view

No data available for SIGNOR curated interactions for ASL Gene

Drugs & Compounds for ASL Gene

(19) Drugs for ASL Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Arginine Approved Nutra Full agonist, Agonist, Target 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
2-(N-Morpholino)-Ethanesulfonic Acid Experimental Pharma Target 0
Argininosuccinate Experimental Pharma Target 0
SB-649868 Experimental, Investigational Pharma Antagonist 0

(11) Additional Compounds for ASL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Argininosuccinic acid
  • 2-(N(Omega)-L-arginine)succinate
  • 2-(N(Omega)-L-arginine)succinic acid
  • 2-(N(Omega)-L-arginino)succinate
  • 2-(N(Omega)-L-arginino)succinic acid
  • 2-(Nw-L-arginino)butanedioate
2387-71-5
Canavaninosuccinate
  • Canavaninosuccinic acid
56073-32-6
genes like me logo Genes that share compounds with ASL: view

Transcripts for ASL Gene

Unigene Clusters for ASL Gene

Argininosuccinate lyase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d
SP1: -
SP2: - -
SP3: - -
SP4:
SP5: - - - -

Relevant External Links for ASL Gene

GeneLoc Exon Structure for
ASL
ECgene alternative splicing isoforms for
ASL

Expression for ASL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASL Gene

This gene is overexpressed in Liver (x14.2).

Protein differential expression in normal tissues from HIPED for ASL Gene

This gene is overexpressed in Liver, secretome (34.5) and Liver (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASL Gene



Protein tissue co-expression partners for ASL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASL Gene:

ASL

SOURCE GeneReport for Unigene cluster for ASL Gene:

Hs.632015

Evidence on tissue expression from TISSUES for ASL Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • kidney
  • liver
  • stomach
General:
  • blood
  • hair
  • skin
genes like me logo Genes that share expression patterns with ASL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ASL Gene

Orthologs for ASL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASL 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 93 (a)
OneToMany
ASL 33
  • 90.93 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 90 (a)
OneToMany
LOC479704 33
  • 88.72 (n)
mouse
(Mus musculus)
Mammalia Asl 33 16 34
  • 86.97 (n)
rat
(Rattus norvegicus)
Mammalia Asl 33
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ASL2 33
  • 69.83 (n)
CRYD2 34
  • 68 (a)
ManyToMany
ASL1 34
  • 65 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asl 33
  • 67.39 (n)
zebrafish
(Danio rerio)
Actinopterygii asl 33 34
  • 67.39 (n)
zgc63532 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008141 33
  • 60.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9510 35 33 34
  • 57.7 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL019W 33
  • 57.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08404g 33
  • 54.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG4 33 34 36
  • 51.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G10920 33
  • 48.12 (n)
rice
(Oryza sativa)
Liliopsida Os03g0305500 33
  • 48.2 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08162 33
  • 59.81 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1539.03c 33
  • 53.23 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4270 33
Species where no ortholog for ASL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASL Gene

ENSEMBL:
Gene Tree for ASL (if available)
TreeFam:
Gene Tree for ASL (if available)

Paralogs for ASL Gene

Paralogs for ASL Gene

Pseudogenes.org Pseudogenes for ASL Gene

genes like me logo Genes that share paralogs with ASL: view

Variants for ASL Gene

Sequence variations from dbSNP and Humsavar for ASL Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1027739421 aciduria (ARGINSA) [MIM:207900] 66,082,369(+) T/C coding_sequence_variant, missense_variant
rs1057141162 likely-pathogenic, not provided, aciduria (ARGINSA) [MIM:207900] 66,086,758(+) T/G coding_sequence_variant, intron_variant, missense_variant
rs111407265 benign, likely-benign, not specified, not provided 66,086,775(+) C/A/T coding_sequence_variant, intron_variant, missense_variant, synonymous_variant
rs117035302 benign, likely-benign, not specified, Argininosuccinate lyase deficiency 66,087,805(+) A/T intron_variant
rs12536292 benign, likely-benign, not specified, Argininosuccinate lyase deficiency 66,086,834(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASL Gene

Variant ID Type Subtype PubMed ID
nsv1021186 CNV gain 25217958
esv3613498 CNV gain 21293372
esv3613497 CNV gain 21293372
esv2761079 CNV gain+loss 21179565
esv2664145 CNV deletion 23128226

Variation tolerance for ASL Gene

Residual Variation Intolerance Score: 21.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASL Gene

Human Gene Mutation Database (HGMD)
ASL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASL Gene

Disorders for ASL Gene

MalaCards: The human disease database

(8) MalaCards diseases for ASL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
argininosuccinic aciduria
  • argininosuccinase deficiency
ornithine transcarbamylase deficiency, hyperammonemia due to
  • ornithine carbamoyltransferase deficiency
urea cycle disorder
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
argininemia
  • arginase deficiency
orotic aciduria
  • orotic aciduria i
- elite association - COSMIC cancer census association via MalaCards
Search ASL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARLY_HUMAN
  • Argininosuccinic aciduria (ARGINSA) [MIM:207900]: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. {ECO:0000269 PubMed:12408190, ECO:0000269 PubMed:1705937, ECO:0000269 PubMed:17326097, ECO:0000269 PubMed:19703900, ECO:0000269 PubMed:2263616, ECO:0000269 PubMed:24166829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ASL Gene

argininosuccinicaciduria with neonatal distress and hyperammonemia

Additional Disease Information for ASL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASL: view

Publications for ASL Gene

  1. Regulation of cellular metabolism by protein lysine acetylation. (PMID: 20167786) Zhao S … Guan KL (Science (New York, N.Y.) 2010) 3 4 22 58
  2. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. (PMID: 19703900) Trevisson E … Salviati L (The Journal of biological chemistry 2009) 3 4 22 58
  3. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. (PMID: 17326097) Trevisson E … Burlina AB (Human mutation 2007) 3 4 22 58
  4. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (PMID: 12408190) Kleijer WJ … Koch HG (Journal of inherited metabolic disease 2002) 3 4 22 58
  5. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. (PMID: 11747432) Sampaleanu LM … Howell PL (Biochemistry 2001) 3 4 22 58

Products for ASL Gene

Sources for ASL Gene

Content
Loading form....