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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASL Gene

protein-coding   GIFtS: 64
GCID: GC07P065540

argininosuccinate lyase

 Explore 26 diseases affiliated with
ASL via our new
 Human Malady Compendium 
Biological research products
for ASL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Argininosuccinate Lyase1 2
ASAL2 3
EC 4.3.2.13 8
Argininosuccinase1
Arginosuccinase3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASL:
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)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ASL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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: Q6LDS5 Q96HS2

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04424

  • 4/22 DME Specific Peptides for ASL (P04424) (see all 22)
     HTGRSRN  DEDIHTA  MTLKGLP  HLSRMAE 

    ASL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
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    Uscn Proteins for ASL

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS282632
    GO:0005829cytosol TAS--


    ASL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ASL for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR008948 L-Aspartase-like
     IPR022761 Fumarate_lyase_N
     IPR003031 D_crystallin
     IPR000362 Fumarate_lyase
     IPR009049 Argininosuccinate_lyase

    Graphical View of Domain Structure for InterPro Entry P04424

    ProtoNet protein and cluster: P04424

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ASL:
    hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmidASL 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004056argininosuccinate lyase activity EXP--


    ASL for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Asltm1Wjc for ASL
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Asl):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  normal 
     renal/urinary system 

    ASL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1glutamate degradation X
    arginine biosynthesis IV0.33
    Urea cycle0.00
    urea cycle0.00
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism1.00
    Urea cycle and metabolism of amino groups0.36
    4superpathway of citrulline metabolism
    superpathway of citrulline metabolism1.00
    citrulline-nitric oxide cycle0.40
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6 BioSystems Pathways for ASL (see all 6
        citrulline-nitric oxide cycle
    Alanine and aspartate metabolism
    superpathway of citrulline metabolism
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups

    3        Reactome Pathways for ASL
        Metabolism
    Metabolism of amino acids and derivatives
    Urea cycle


    3         Kegg Pathways  (Kegg details for ASL):
        Alanine, aspartate and glutamate metabolism
    Arginine and proline metabolism
    Metabolic pathways

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASL

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

    5/100 Interacting proteins for ASL (P044243 ENSP000003071884) via UniProtKB, MINT, STRING, and/or I2D (see all 100)

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0034641cellular nitrogen compound metabolic process TAS--
    GO:0042450arginine biosynthetic process via ornithine IEA--


    ASL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASL

    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

    10/20 Novoseek 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
    Drug/compound PharmGKB Annotation
    phenylacetic acidDL  
    sodium benzoateDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ASL / ARLY 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    11 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 ENST00000485657
    ENST00000493708 ENST00000488343 ENST00000464970

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    Additional cDNA 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 

    24/206 AceView cDNA sequences (see all 206):

    CR619700 BX328836 BU844469 AU279395 CR591306 CR618289 CR591307 BQ954569 
    BM826643 BE018013 BQ582256 AI186427 CR612547 AF073792 BX383545 BP372476 
    BU633176 CR613134 BQ652339 AA651919 CR626571 CA307983 BG324715 AA193592 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGAGACCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ASL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASL

    SOURCE GeneReport for Unigene cluster: Hs.632015
        SABiosciences Expression via Pathway-Focused PCR Array including ASL: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ASL gene from 8/32 species (see all 32)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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_135413.21  NP_609257.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG4(YHR018C)4
    ARG41
    Argininosuccinate lyase, catalyzes the final step in more4
    Arg4p1
    51.13(n)1
    54.68(a)1
      8(141402-140011)4
    8564111, 4  NP_011882.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G109206
    argininosuccinate lyase
    37(a)
    possible ortholog
    5(3441752-3444142)
    rice
    (Oryza sativa)
    Liliopsida --
    argininosuccinate lyase, putative, expressed
    38(a)
    possible ortholog
    3(10841946-10846379)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria argH6
    argininosuccinate lyase
    45(a)
    possible ortholog
    Chromosome(4154873-4156246) b3960


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/362 NCBI SNPs in ASL are shown (see all 362    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405851,2
    C,H,pathogenic64884935(+) CAGGTA/C/G/
            
    GCACT
    16 S R G C mis12NA 4
    rs289414731,2
    Cpathogenic64889240(+) ACGCCA/GTGGCA 7 M V int1 mis10--------
    rs289414721,2
    Cpathogenic64891601(+) GCCCCA/GGAAGA 8 Q R mis11Minor allele frequency- G:0.00NA 2
    rs289402871,2
    Cpathogenic64894562(+) TGGTCC/TGCAAA 8 R C mis11Minor allele frequency- T:0.00NA 4552
    rs289402861,2
    Cpathogenic64895050(+) CATTCC/TGCCAG 8 R C mis10--------
    rs1497906151,2
    C--61743396(+) CCCAA-/AACAACAA 4 -- int10--------
    rs561571131,2
    C--64876449(+) ACATTA/GAAGAC 4 -- us2k10--------
    rs1130013081,2
    --64876755(+) AGTACT/CCAACA 4 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs102477081,2
    C,--64877640(+) ctgagA/Tagcta 4 -- us2k10--------
    rs1165583591,2
    C,F,--64878960(+) ACACCA/CCATCC 4 -- int11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for ASL (65540776 - 65558545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASL: --
    Human Gene Mutation Database (HGMD): ASL

    Locus Specific Mutation Databases (LSDB): ASL

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    ASL for disorders           About GeneDecksing

    OMIM gene information: 608310   
    OMIM disorders: 207900  
    UniProtKB/Swiss-Prot: ARLY_HUMAN, P04424
  • Defects in ASL are the cause of arginosuccinic 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

    20/26 diseases for ASL (see all 26):    About MalaCards
    argininosuccinic aciduria    lysinuric protein intolerance    ornithine carbamoyltransferase deficiency    urea cycle disorder
    propionic acidemia    citrullinemia    hyperargininemia    type 2 diabetes mellitus
    orofacial cleft    amyotrophic lateral sclerosis    lateral sclerosis    diabetes mellitus
    liver disease    convulsions    pulmonary hypertension    hypertension
    hepatocellular carcinoma    hepatitis    fibrosis    cerebritis

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

    10/13 Novoseek 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

    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)
    About This Section

    PubMed articles for ASL gene, integrated from 9 sources (see all 130):
    (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. (1990)
    2. Human argininosuccinate lyase: a structural basis for intragenic complementation. (PubMed id 9256435)1, 2, 9 Turner M.A.... Howell P.L. (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. (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. (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. (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. (1991)
    7. 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. (2004)
    8. cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase. (PubMed id 2644168)1, 2 Todd S....Naylor S.L. (1989)
    9. Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence. (PubMed id 3391281)1, 2 Matuo S.... Miyata T. (1988)
    10. Gene sharing by delta-crystallin and argininosuccinate lyase. (PubMed id 3368457)1, 2 Piatigorsky J.... Wawrousek E.F. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 435 HGNC: 746 AceView: ASLandRCP9 Ensembl:ENSG00000126522 euGenes: HUgn435
    ECgene: ASL Kegg: 435 H-InvDB: ASL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASL

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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