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Aliases for ASL Gene

Aliases for ASL Gene

  • Argininosuccinate Lyase 2 3
  • Arginosuccinase 3 4
  • EC 4.3.2.1 4 63
  • 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 lysinuric protein intolerance. Among its related pathways are Metabolism and Carbon metabolism. An important paralog of this gene is ENSG00000249319.

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

Genomics for ASL Gene

Regulatory Elements for ASL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ASL Gene

Start:
66,075,789 bp from pter
End:
66,093,558 bp from pter
Size:
17,770 bases
Orientation:
Plus strand

Genomic View for ASL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ASL Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASL Gene

Domains for ASL Gene

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 :
  • P04424
Family:
  • Belongs to the lyase 1 family. Argininosuccinate lyase subfamily.
genes like me logo Genes that share domains with ASL: view

No data available for Gene Families for ASL Gene

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

Gene Ontology (GO) - Molecular Function for ASL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004056 argininosuccinate lyase activity EXP --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ASL: view
genes like me logo Genes that share phenotypes with ASL: view

Animal Models for ASL Gene

MGI Knock Outs for ASL:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASL

In Situ Assay Products

Flow Cytometry Products

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

Localization for ASL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASL Gene COMPARTMENTS Subcellular localization image for ASL gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

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 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 for ASL Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006475 internal protein amino acid acetylation IDA 20167786
GO:0006527 arginine catabolic process TAS 282632
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042450 arginine biosynthetic process via ornithine IEA --
genes like me logo Genes that share ontologies with ASL: view

Compounds for ASL Gene

(4) HMDB Compounds for ASL Gene

Compound Synonyms Cas Number PubMed IDs
Argininosuccinic acid
  • Argininosuccinate
2387-71-5
Canavaninosuccinate
  • Canavaninosuccinic acid
56073-32-6
Fumaric acid
  • (2E)-But-2-enedioate
110-17-8
L-Arginine
  • (S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate
74-79-3

(3) Drugbank Compounds for ASL Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-(N-Morpholino)-Ethanesulfonic Acid
target
Argininosuccinate
target
L-Arginine
  • (S)-2-Amino-5-guanidinovaleric acid
74-79-3 target

(20) Novoseek inferred chemical compound relationships for ASL Gene

Compound -log(P) Hits PubMed IDs
argininosuccinic acid 94.1 4
asal 89.4 11
citrulline 87.2 17
carbamoyl phosphate 79.6 9
ornithine 73.7 11

(2) PharmGKB related drug/compound annotations for ASL Gene

Drug/compound Annotation
phenylacetic acid
sodium benzoate
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASL

Primer Products

Flow Cytometry 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 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 (14.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASL Gene

SOURCE GeneReport for Unigene cluster for ASL Gene Hs.632015

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

In Situ Assay 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 35
  • 99.71 (n)
  • 99.57 (a)
ASL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 93 (a)
OneToMany
ASL 35
  • 90.93 (n)
  • 95.68 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 90 (a)
OneToMany
LOC479704 35
  • 88.72 (n)
  • 93.53 (a)
mouse
(Mus musculus)
Mammalia Asl 35
  • 86.97 (n)
  • 94.17 (a)
Asl 16
Asl 36
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Asl 35
  • 85.43 (n)
  • 90.22 (a)
chicken
(Gallus gallus)
Aves ASL1 36
  • 65 (a)
ManyToMany
ASL2 35
  • 69.83 (n)
  • 69.55 (a)
CRYD2 36
  • 68 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asl 35
  • 67.39 (n)
  • 73.38 (a)
zebrafish
(Danio rerio)
Actinopterygii asl 35
  • 67.39 (n)
  • 70.13 (a)
asl 36
  • 69 (a)
OneToMany
zgc63532 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008141 35
  • 60.89 (n)
  • 52.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9510 35
  • 57.7 (n)
  • 53.11 (a)
CG9510 36
  • 51 (a)
OneToMany
CG9510 37
  • 52 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL019W 35
  • 57.39 (n)
  • 55.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG4 35
  • 51.16 (n)
  • 54.57 (a)
ARG4 36
  • 54 (a)
OneToMany
ARG4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08404g 35
  • 54.41 (n)
  • 55.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G10920 35
  • 48.12 (n)
  • 42.35 (a)
rice
(Oryza sativa)
Liliopsida Os03g0305500 35
  • 48.2 (n)
  • 42.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08162 35
  • 59.81 (n)
  • 54.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1539.03c 35
  • 53.23 (n)
  • 55.99 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4270 35
Species with no ortholog for ASL:
  • 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 Sequence Context AA Info Type MAF
rs160543 -- 66,090,098(+) ccagg(C/T)gtgat intron-variant
rs160642 -- 66,093,386(+) GTAGA(C/T)GGGAA downstream-variant-500B
rs160643 -- 66,093,235(+) cactt(A/G)tgccc utr-variant-3-prime
rs160644 -- 66,093,199(+) atagt(C/T)ccagc utr-variant-3-prime
rs160645 -- 66,091,320(+) tgaga(A/G)gctga intron-variant

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

Variant ID Type Subtype PubMed ID
esv2664145 CNV Deletion 23128226
nsv888325 CNV Loss 21882294

Relevant External Links for ASL Gene

HapMap Linkage Disequilibrium report
ASL
Human Gene Mutation Database (HGMD)
ASL
Locus Specific Mutation Databases (LSDB)
ASL

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

Disorders for ASL Gene

(1) OMIM Diseases for ASL Gene (608310)

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:2263616, ECO:0000269 PubMed:24166829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ASL Gene

(13) Novoseek inferred disease relationships for ASL Gene

Disease -log(P) Hits PubMed IDs
argininosuccinate lyase deficiency 99.2 62
aciduria argininosuccinic 96.7 9
citrullinemia 88 7
hyperammonemia 79.6 3
lysinuric protein intolerance 74.9 1

Genatlas disease for ASL Gene

argininosuccinicaciduria with neonatal distress and hyperammonemia

Relevant External Links for ASL

Genetic Association Database (GAD)
ASL
Human Genome Epidemiology (HuGE) Navigator
ASL
genes like me logo Genes that share disorders with ASL: view

Publications for ASL Gene

  1. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. (PMID: 1705937) Barbosa P. … O'Brien W.E. (J. Biol. Chem. 1991) 3 4 23
  2. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. (PMID: 2263616) Walker D.C. … McInnes R.R. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  3. Human argininosuccinate lyase: a structural basis for intragenic complementation. (PMID: 9256435) Turner M.A. … Howell P.L. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23
  4. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. (PMID: 17326097) Trevisson E. … Burlina A.B. (Hum. Mutat. 2007) 3 4 23
  5. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. (PMID: 11747432) Sampaleanu L.M. … Howell P.L. (Biochemistry 2001) 3 4 23

Products for ASL Gene

Sources for ASL Gene

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