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ASL Gene

protein-coding   GIFtS: 66
GCID: GC07P065540

Argininosuccinate Lyase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Argininosuccinate Lyase1 2
ASAL2 3
EC 4.3.2.13 8
argininosuccinase2
arginosuccinase2
Arginosuccinase3

External Ids:    HGNC: 7461   Entrez Gene: 4352   Ensembl: ENSG000001265227   OMIM: 6083105   UniProtKB: P044243   

Export aliases for ASL gene to outside databases

Previous GC identifers: GC07P064180 GC07P064938 GC07P064952 GC07P064984 GC07P065178 GC07P061727


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperargininemia. An important paralog of this gene is ENSG00000249319.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASL gene promoter:
         AML1a   COMP1   FOXO4   Lmo2   Olf-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ASL promoter sequence
   Search Chromatin IP Primers for ASL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.21   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7q11.21

ASL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASL gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P065540:  view genomic region     (about GC identifiers)

Start:
65,540,776 bp from pter      End:
65,558,545 bp from pter
Size:
17,770 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 64,878,281-64,895,827     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424 (See protein sequence)
Recommended Name: Argininosuccinate lyase  
Size: 464 amino acids; 51658 Da
Subunit: Homotetramer
Sequence caution: Sequence=AAA51786.1; Type=Frameshift; Positions=387, 452;
2 PDB 3D structures from and Proteopedia for ASL:
1AOS (3D)        1K62 (3D)    
Secondary accessions: E7EMI0 E9PE48 Q6LDS5 Q96HS2
Alternative splicing: 3 isoforms:  P04424-1   P04424-2   P04424-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ASL: NX_P04424

Explore proteomics data for ASL at MOPED

Post-translational modifications: 

  • 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 activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ASL (P04424) (see all 22)
     HTGRSRN  DEDIHTA  MTLKGLP  HLSRMAE 


    See ASL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000039.2  NP_001020114.1  NP_001020115.1  NP_001020117.1  

    ENSEMBL proteins: 
     ENSP00000307188   ENSP00000370219   ENSP00000378741   ENSP00000354710   ENSP00000378740  
    Reactome Protein details: P04424

    ASL Human Recombinant Protein Products:

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    Novus Biologicals ASL Proteins
    Novus Biologicals ASL Lysates
    Sino Biological Recombinant Protein for ASL
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    ProSpec Recombinant Protein for ASL
    Cloud-Clone Corp. Proteins for ASL

    ASL Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ASL

    ASL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ASL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ASL
    Cloud-Clone Corp. CLIAs for ASL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR022761 Fumarate_lyase_N
     IPR020557 Fumarate_lyase_CS
     IPR008948 L-Aspartase-like
     IPR000362 Fumarate_lyase_fam
     IPR009049 Argininosuccinate_lyase

    Graphical View of Domain Structure for InterPro Entry P04424

    ProtoNet protein and cluster: P04424

    3 Blocks protein domains:
    IPB000362 Fumarate lyase
    IPB003031 Delta crystallin signature
    IPB009049 Argininosuccinate lyase


    UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
    Similarity: Belongs to the lyase 1 family. Argininosuccinate lyase subfamily


    ASL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARLY_HUMAN, P04424
    Catalytic activity: 2-(N(omega)-L-arginino)succinate = fumarate + L-arginine
    Enzyme regulation: Enzyme activity is regulated by acetylation (By similarity)

         Genatlas biochemistry entry for ASL:
    argininosuccinate lyase,cytosolic,urea cycle

         Enzyme Number (IUBMB): EC 4.3.2.11 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004056argininosuccinate lyase activity EXP--
         
    ASL for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Asl):
     behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  normal 
     renal/urinary system 

    ASL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Asltm1Wjc for ASL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ASL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASL

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ASL:
    hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmidASL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ASL
    Predesigned siRNA for gene silencing in human, mouse, rat ASL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ASL

    Clone
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    OriGene ORF clones in mouse, rat for ASL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ASL (NM_000639)
    Sino Biological Human cDNA Clone for ASL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ASL 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS282632
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    ASL for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ASL About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    citrulline-nitric oxide cycle0.00
    superpathway of citrulline metabolism0.00
    Urea cycle and metabolism of amino groups0.00
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    urea cycle0.00
    Urea cycle0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Carbon metabolism
    Biosynthesis of amino acids0.38
    5glutamate degradation X
    arginine biosynthesis IV0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for ASL (see all 6)
        Alanine and aspartate metabolism
    citrulline-nitric oxide cycle
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism


    1 Reactome Pathway for ASL
        Urea cycle


    4 Kegg Pathways  (Kegg details for ASL):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
    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


    ASL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ASL: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ASL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ASL (P044243 ENSP000003071884) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASS1P009663, ENSP000002530044I2D: score=1 STRING: ENSP00000253004
    IDH1O758743, ENSP000002609854I2D: score=1 STRING: ENSP00000260985
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    PCP114983, ENSP000003775274I2D: score=2 STRING: ENSP00000377527
    QARSP478973, ENSP000003075674I2D: score=3 STRING: ENSP00000307567
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0006475internal protein amino acid acetylation IDA--
    GO:0006527arginine catabolic process TAS282632
    GO:0007626locomotory behavior ----
    GO:0009791post-embryonic development ----

    ASL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASL (ARLY)

    4 HMDB Compounds for ASL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Argininosuccinic acidArgininosuccinate (see all 27)2387-71-5--
    CanavaninosuccinateCanavaninosuccinic acid 56073-32-6--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--

    3 DrugBank Compounds for ASL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Arginine(S)-2-Amino-5-guanidinovaleric acid (see all 4)74-79-3target--17513437 17651442 17198704 17611150 16809898
    Argininosuccinate-- --target--17139284 17016423 10592235
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ASL gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    argininosuccinic acid 94.1 7 17326097 (1), 10331469 (1), 2263616 (1), 8196062 (1)
    asal 89.4 26 2263616 (6), 8843999 (2), 16941645 (2), 8196062 (1)
    citrulline 87.2 24 19217439 (2), 9195976 (1), 10973788 (1), 12359751 (1) (see all 16)
    carbamoyl phosphate 79.6 12 19092443 (2), 8464164 (1), 15164414 (1), 1720458 (1) (see all 8)
    ornithine 73.7 15 8464164 (1), 9874001 (1), 10869432 (1), 20025860 (1) (see all 11)
    arginine 73.1 50 19217439 (2), 9256435 (1), 10709858 (1), 7795361 (1) (see all 26)
    fumarate 72.3 9 11092456 (2), 11747432 (1), 15362851 (1), 11747433 (1)
    urea 70.9 33 19217439 (3), 2111814 (2), 11486903 (2), 10709858 (1) (see all 16)
    n-acetylglutamate 69.2 1 15164414 (1)
    guanidinoacetate 66.8 5 16580861 (2), 16343968 (2)

    2 PharmGKB related drug/compound annotations for ASL gene    About this table
    Drug/compound PharmGKB Annotation
    phenylacetic acid
    sodium benzoate



    ASL for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ASL gene (4 alternative transcripts): 
    NM_000048.3  NM_001024943.1  NM_001024944.1  NM_001024946.1  

    Unigene Cluster for ASL:

    Argininosuccinate lyase
    Hs.632015  [show with all ESTs]
    Unigene Representative Sequence: NM_001024943
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304874(uc003tuo.3 uc003tup.3 uc003tur.3 uc003tuq.3)
    ENST00000487982(uc011kdu.1 uc011kdv.1) ENST00000496336(uc010kzx.2)
    ENST00000380839 ENST00000395332 ENST00000362000 ENST00000395331 ENST00000493708
    ENST00000488343 ENST00000464970
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ASL:
    hsa-miR-4261
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ASL (NM_000639)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASL
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASL
      QuantiTect SYBR Green Assays in human, mouse, rat ASL
      QuantiFast Probe-based Assays in human, mouse, rat ASL

    Additional mRNA sequence: 

    AK300519.1 AK310912.1 AK316334.1 BC008195.1 BC033146.1 J03058.1 M14218.1 M57638.1 
    Y00753.1 

    24 DOTS entries:

    DT.92412452  DT.92434976  DT.100826288  DT.92356286  DT.100826271  DT.100826295  DT.92434973  DT.87014302 
    DT.100826282  DT.100826293  DT.100709150  DT.100826292  DT.100826294  DT.100709279  DT.100826286  DT.100826290 
    DT.100028135  DT.100826281  DT.121127505  DT.121127554  DT.91918974  DT.92434980  DT.102834213  DT.40213278 

    Selected AceView cDNA sequences (see all 206):

    BX401300 BQ582256 CR619001 BQ064268 CR603567 BM126868 BM854470 CR596171 
    BE276199 U51134 CR591307 CA396260 BM469369 BM826079 CN485319 CR603715 
    AU279395 CR591306 CR619700 BX328836 AI186427 CR618306 BG111928 BU634268 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ASL    About this scheme

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


    ECgene alternative splicing isoforms for ASL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGAGACCA
    ASL Expression
    About this image


    ASL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Kidney (Urinary System)
    ASL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632015
        Pathway & Disease-focused RT2 Profiler PCR Array including ASL: 
              Amino Acid Metabolism I in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ASL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ASL gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asl1 , 5 argininosuccinate lyase1, 5 86.97(n)1
    94.17(a)1
      5 (68.37 cM)5
    1099001  NM_133768.41  NP_598529.11 
     1300112585 
    chicken
    (Gallus gallus)
    Aves ASL21 argininosuccinate lyase 69.83(n)
    69.55(a)
      417545  NM_001030714.1  NP_001025885.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia CA986689.12   -- 77.3(n)    CA986689.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635322 hypothetical protein MGC63532 74.15(n)   393423  BC055132.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95101 , 3 argininosuccinate lyase3
    CG95101
    52(a)3
    57.7(n)1
    53.11(a)1
      37717381  NM_001032063.11  NP_001027234.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG4(YHR018C)4
    ARG41
    Argininosuccinate lyase, catalyzes the final step in more4
    ARG41
    51.16(n)1
    54.57(a)1
      8(141402-140011)4
    8564111, 4  NP_011882.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G109201 AT5G10920 48.12(n)
    42.35(a)
      830959  NM_121130.2  NP_196653.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03055001 Os03g0305500 48.2(n)
    42.6(a)
      4332596  NM_001056418.1  NP_001049883.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASL gene
    ENSG000002493192  

    ASL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ASL
    PGOHUM00000250321


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ASL (see all 523)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405851,2,,4
    C,F,HArgininosuccinic aciduria (ARGINSA)4 pathogenic169028404(+) CAGGTA/C/G/
            
    GCACT
    8 R C mis127NA NS EA WA CSA 2493
    rs289414731,2,,4
    CArgininosuccinic aciduria (ARGINSA)4 pathogenic169032712(+) ACGCCA/GTGGCA 7 M V mis1 int10--------
    rs289414721,2,,4
    CArgininosuccinic aciduria (ARGINSA)4 pathogenic169035077(+) GCCCCA/GGAAGA 8 Q R mis10--------
    rs289402871,2,,4
    CArgininosuccinic aciduria (ARGINSA)4 pathogenic169038041(+) TGGTCC/TGCAAA 8 R C mis11Minor allele frequency- T:0.00NA 4552
    rs289402861,2,,4
    CArgininosuccinic aciduria (ARGINSA)4 pathogenic169038529(+) CATTCC/TGCCAG 8 R C mis10--------
    VAR_0006784
    Argininosuccinic aciduria (ARGINSA)4--see VAR_0006782 R Q mis40--------
    VAR_0431114
    Argininosuccinic aciduria (ARGINSA)4--see VAR_0431112 M R mis40--------
    VAR_0362824
    A breast cancer sample4--see VAR_0362822 G V mis40--------
    VAR_0431124
    Argininosuccinic aciduria (ARGINSA)4--see VAR_0431122 R W mis40--------
    VAR_0431074
    Argininosuccinic aciduria (ARGINSA)4--see VAR_0431072 R Q mis40--------

    HapMap Linkage Disequilibrium report for ASL (65540776 - 65558545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ASL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664145CNV Deletion23128226
    nsv888325CNV Loss21882294

    Human Gene Mutation Database (HGMD): ASL
    Locus Specific Mutation Databases (LSDB): ASL

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ASL
    DNA2.0 Custom Variant and Variant Library Synthesis for ASL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608310   
    OMIM disorders: 207900  
    UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ASL (see all 26):    
    About MalaCards
    argininosuccinic aciduria    hyperargininemia    urea cycle disorder    lysinuric protein intolerance
    citrullinemia    ornithine carbamoyltransferase deficiency    orotic aciduria    propionic acidemia
    orofacial cleft    liver disease    lateral sclerosis    amyotrophic lateral sclerosis
    breast and colorectal cancer    diabetes mellitus    hypertension    cerebritis
    hepatocellular carcinoma    tuberculosis    endotheliitis    melanoma

    2 diseases from the University of Copenhagen DISEASES database for ASL:
    Argininosuccinic aciduria     Urea cycle disorder

    ASL for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ASL gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    argininosuccinate lyase deficiency 99.2 73 18616627 (4), 11486903 (4), 12384776 (4), 11400762 (3) (see all 38)
    aciduria argininosuccinic 96.7 14 11092456 (2), 1705937 (1), 17326097 (1), 12408190 (1) (see all 8)
    citrullinemia 88 9 10869432 (1), 10331469 (1), 20025860 (1), 15164414 (1) (see all 7)
    hyperammonemia 79.6 4 17326097 (1), 18616627 (1), 12370774 (1)
    lysinuric protein intolerance 74.9 1 12450676 (1)
    orotic aciduria 74.1 1 17513443 (1)
    hyperargininemia 71.4 1 15164414 (1)
    ornithine transcarbamylase deficiency 70.8 2 10869432 (1), 15164414 (1)
    hepatomegaly 58.6 2 16808909 (1), 12370774 (1)
    coagulopathy 6.85 1 1861450 (1)

    Genatlas disease: ASL
    argininosuccinicaciduria with neonatal distress and hyperammonemia

    Genetic Association Database (GAD): ASL
    Human Genome Epidemiology (HuGE) Navigator: ASL (24 documents)

    Export disorders for ASL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASL gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with ASL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. (PubMed id 2263616)1, 2, 9 Walker D.C.... McInnes R.R. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    2. Human argininosuccinate lyase: a structural basis for intragenic complementation. (PubMed id 9256435)1, 2, 9 Turner M.A.... Howell P.L. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. (PubMed id 17326097)1, 2, 9 Trevisson E.... Burlina A.B. (Hum. Mutat. 2007)
    4. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. (PubMed id 11747432)1, 2, 9 Sampaleanu L.M.... Howell P.L. (Biochemistry 2001)
    5. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (PubMed id 12408190)1, 2, 9 Kleijer W.J.... Koch H.G. (J. Inherit. Metab. Dis. 2002)
    6. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. (PubMed id 1705937)1, 2, 9 Barbosa P.... O'Brien W.E. (J. Biol. Chem. 1991)
    7. Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts. (PubMed id 20739017)1, 4 Hozyasz K.K....Jagodzinski P.P. (Arch. Oral Biol. 2010)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase. (PubMed id 2644168)1, 2 Todd S....Naylor S.L. (Genomics 1989)
    10. Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence. (PubMed id 3391281)1, 2 Matuo S.... Miyata T. (FEBS Lett. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 435 HGNC: 746 AceView: ASLandRCP9 Ensembl:ENSG00000126522 euGenes: HUgn435
    ECgene: ASL Kegg: 435 H-InvDB: ASL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ASL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ASL[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASL gene:
    Search GeneIP for patents involving ASL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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