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ADSL Gene

protein-coding   GIFtS: 69
GCID: GC22P040742

Adenylosuccinate 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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adenylosuccinate Lyase1 2     adenylosuccinase2
AMPS2 3     ASase3
ASL2 3     Adenylosuccinase3
EC 4.3.2.23 8     EC 4.3.28
ASASE2     

External Ids:    HGNC: 2911   Entrez Gene: 1582   Ensembl: ENSG000002399007   OMIM: 6082225   UniProtKB: P305663   
ORGUL members:         

Export aliases for ADSL gene to outside databases

Previous GC identifers: GC22P037357 GC22P038985 GC22P039067 GC22P023705


(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 ADSL Gene:
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate
from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from
succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and
removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic
autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and
epilepsy. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ADSL Gene:
ADSL (adenylosuccinate lyase) is a protein-coding gene. Diseases associated with ADSL include adenylosuccinate lyase deficiency, and adenylosuccinase deficiency. GO annotations related to this gene include (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity and N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity.

UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
Function: Catalyzes two non-sequential steps in de novo AMP synthesis: converts
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus
5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis,
and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate




(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_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADSL gene promoter:
         E2F-4   E2F-3a   E2F-5   Olf-1   Nkx2-5   E2F-2   E2F   E2F-1   c-Myb   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADSL promoter sequence
   Search Chromatin IP Primers for ADSL

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


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P040742:  view genomic region     (about GC identifiers)

Start:
40,742,504 bp from pter      End:
40,786,467 bp from pter
Size:
43,964 bases      Orientation:
plus strand

(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: PUR8_HUMAN, P30566 (See protein sequence)
Recommended Name: Adenylosuccinate lyase  
Size: 484 amino acids; 54889 Da
Subunit: Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to
each active site
Sequence caution: Sequence=AAC60603.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA46697.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
4 PDB 3D structures from and Proteopedia for ADSL:
2J91 (3D)        2VD6 (3D)        4FFX (3D)        4FLC (3D)    
Secondary accessions: B0QY76 O75495 Q5TI34
Alternative splicing: 2 isoforms:  P30566-1   P30566-2   (Lacks enzymatic activity)

Explore the universe of human proteins at neXtProt for ADSL: NX_P30566

Explore proteomics data for ADSL at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys134, Lys170, Lys276, Lys415
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADSL (P30566) (see all 18)
     HCCPKAA  THFQPAQ  SYRSPLA  RFLEEEV 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000017.1  NP_001116850.1  

    ENSEMBL proteins: 
     ENSP00000216194   ENSP00000341429   ENSP00000476535   ENSP00000390107  
    Reactome Protein details: P30566

    ADSL Human Recombinant Protein Products:

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    ADSL Assay Products:

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    Cloud-Clone Corp. CLIAs for ADSL


    (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 7):
     IPR022761 Fumarate_lyase_N
     IPR004769 Pur_lyase
     IPR020557 Fumarate_lyase_CS
     IPR008948 L-Aspartase-like
     IPR019468 AdenyloSucc_lyase_C

    Graphical View of Domain Structure for InterPro Entry P30566

    ProtoNet protein and cluster: P30566

    1 Blocks protein domain: IPB000362 Fumarate lyase

    UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
    Similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily


    ADSL 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: PUR8_HUMAN, P30566
    Function: Catalyzes two non-sequential steps in de novo AMP synthesis: converts
    (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus
    5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis,
    and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate
    Catalytic activity: N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP
    Catalytic activity: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate +
    5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
    Enzyme regulation: The enzyme reaction kinetics indicate cooperativity between subunits

         Genatlas biochemistry entry for ADSL:
    adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of a bifunctional
    enzyme also catalyzing the eight step of the de novo purine biosynthesis,i.e,the conversion of SAICAR to AICAR
    (amino-imidazole carboxamide ribonucleotide),also involved in the purine nucleotide cycle

         Enzyme Numbers (IUBMB): EC 4.3.2.21 2 EC 4.3.22

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004018N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity TAS--
    GO:0070626(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity IEA--
         
    ADSL for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Adsl (no phenotypes)

    ADSL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADSL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADSL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADSL

    miRNA
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    miRTarBase miRNAs that target ADSL:
    hsa-mir-93-3p (MIRT038883), hsa-let-7a-5p (MIRT052539)

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    Search for qRT-PCR Assays for microRNAs that regulate ADSL
    SwitchGear 3'UTR luciferase reporter plasmidADSL 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ADSL (NM_000026)
    Sino Biological Human cDNA Clone for ADSL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADSL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADSL

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSL


    (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
    extracellular2
    mitochondrion2
    nucleus2
    plasma membrane2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    ADSL 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 ADSL About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    4Nucleotide Metabolism
    Nucleotide Metabolism
    5Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ADSL
        ATP/ITP metabolism

    1 BioSystems Pathway for ADSL
        Nucleotide Metabolism


    1 Reactome Pathway for ADSL
        Purine ribonucleoside monophosphate biosynthesis


    3 Kegg Pathways  (Kegg details for ADSL):
        Purine metabolism
    Alanine, aspartate and glutamate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
    Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2
    Pathway: Purine metabolism; IMP biosynthesis via de novo pathway;
    5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from
    5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2


    ADSL for pathways           About GeneDecksing

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

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ADSL

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

    Selected Interacting proteins for ADSL (P305663 ENSP000002161944) via UniProtKB, MINT, STRING, and/or I2D (see all 129)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3BP558843, ENSP000003541254I2D: score=4 STRING: ENSP00000354125
    SEH1LQ96EE33, ENSP000003827794I2D: score=3 STRING: ENSP00000382779
    PPATQ062033, ENSP000002642204I2D: score=2 STRING: ENSP00000264220
    USP4Q131073, ENSP000002655604I2D: score=2 STRING: ENSP00000265560
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006163purine nucleotide metabolic process ----
    GO:0006164purine nucleotide biosynthetic process IC10888601
    GO:0006167AMP biosynthetic process IDA11428554

    ADSL 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 ADSL (PUR8)

    7 HMDB Compounds for ADSL    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Aminoimidazole-4-carboxamide4-Amino-5-Imidazolecarboxamide (see all 13)360-97-4--
    AICAR5'-P-ribosyl-5-amino-4-imidazole carboxamide (see all 6)3031-94-5--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenylsuccinic acid6-Succino-5'-adenylate (see all 14)19046-78-7--
    Argininosuccinic acidArgininosuccinate (see all 27)2387-71-5--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    SAICAR5-Amino-4-imidazole-N-succinocarboxamide ribonucleotide (see all 22)3031-95-6--

    Selected Novoseek inferred chemical compound relationships for ADSL gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylosuccinate 98.9 228 10673438 (8), 12392914 (7), 10926519 (6), 16973378 (6) (see all 80)
    succinyladenosine 98.5 34 10958654 (4), 15902552 (2), 8412003 (1), 9211192 (1) (see all 13)
    saicar 96.5 17 1872474 (3), 10958654 (2), 15902552 (2), 18830228 (2) (see all 10)
    samp 86.7 11 1872474 (3), 10958654 (2), 9211192 (1), 18524658 (1) (see all 6)
    purine 81.5 35 9211192 (1), 16839792 (1), 8845770 (1), 10727185 (1) (see all 26)
    prpp 72.5 3 15566465 (1), 11098885 (1)
    aicar 72.2 7 9211192 (1), 8412002 (1), 1872474 (1), 18524658 (1) (see all 5)
    fumarate 68 4 12392914 (1), 8530047 (1), 10673438 (1)
    purine nucleoside 52.9 2 16613999 (1), 10759467 (1)
    adenylate 49.7 11 2037296 (1), 8412003 (1), 12392914 (1), 8054268 (1) (see all 8)



    ADSL 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 ADSL gene (2 alternative transcripts): 
    NM_000026.2  NM_001123378.1  

    Unigene Cluster for ADSL:

    Adenylosuccinate lyase
    Hs.75527  [show with all ESTs]
    Unigene Representative Sequence: AK225042
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216194(uc003ayp.4 uc003ays.4) ENST00000466863 ENST00000342312
    ENST00000477111 ENST00000480775 ENST00000498234 ENST00000423176 ENST00000454266(uc010gyb.1)

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      QuantiFast Probe-based Assays in human, mouse, rat ADSL

    Additional mRNA sequence: 

    AF067853.1 AF067854.1 AK225042.1 AK291091.1 AK293722.1 AK298187.1 AK300705.1 AK308662.1 
    BC000253.1 BC018881.2 CR456368.1 S60710.1 X65867.1 

    Selected DOTS entries (see all 35):

    DT.316819  DT.95245346  DT.101957367  DT.120649220  DT.97815882  DT.100885986  DT.95245369  DT.92446407 
    DT.120648885  DT.100885990  DT.120648915  DT.100671417  DT.97779515  DT.97859584  DT.100649322  DT.100730585 
    DT.100726546  DT.100885984  DT.100885992  DT.120649229  DT.95245347  DT.100645360  DT.100885985  DT.100885989 

    Selected AceView cDNA sequences (see all 285):

    BQ671131 CR616911 BU859956 BE795635 BQ071361 CR609122 BG763386 AI192994 
    BQ651784 CR613803 AU102539 AU102543 BQ068001 BQ924128 BQ673030 BX449311 
    BX424662 BU184909 CR614973 AI354260 AU102545 CR594266 AJ709252 BE905619 

    GeneLoc Exon Structure


    (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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    ADSL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAAATCAG
    ADSL Expression
    About this image


    ADSL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    ADSL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADSL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75527

    UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
    Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less
    abundant than isoform 1

        Pathway & Disease-focused RT2 Profiler PCR Array including ADSL: 
              Amino Acid Metabolism II in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSL

    (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 animals and fungi.

    Orthologs for ADSL gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adsl1 , 5 adenylosuccinate lyase1, 5 86.91(n)1
    94.01(a)1
      15 (37.95 cM)5
    115641  NM_009634.61  NP_033764.21 
     809484905 
    chicken
    (Gallus gallus)
    Aves ADSL1 adenylosuccinate lyase 75.53(n)
    84.53(a)
      396540  NM_205529.1  NP_990860.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADSL6
    adenylosuccinate lyase
    76(a)
    1 ↔ 1
    5(25755055-25780035)
    African clawed frog
    (Xenopus laevis)
    Amphibia adsl-prov2 adenylosuccinate lyase 77.29(n)    BC044021.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi60b042 wufi60b04 74.09(n)   334431  AY398306.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35901 , 3 adenylosuccinate lyase3
    CG35901
    67(a)3
    64.67(n)1
    67.88(a)1
      89E83
    420511  NM_142329.41  NP_650586.21 
    worm
    (Caenorhabditis elegans)
    Secernentea R06C7.56
    Protein R06C7.5, isoform a
    46(a)
    1 ↔ 1
    I(7246824-7248687) WBGene00011064
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE13(YLR359W)4
    ADE131
    Adenylosuccinate lyase, catalyzes two steps in the more4
    ADE131
    59.67(n)1
    64.67(a)1
      12(844282-845730)4
    8510731, 4  NP_013463.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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)
    About This Section

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    Selected SNPs for ADSL (see all 577)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1430839471,2,,4
    C,FAdenylosuccinase deficiency (ADSL deficiency)4 --24660055(+) GATGGC/TGGCTG 4 A V mis11Minor allele frequency- T:0.00NA 3772
    VAR_0170884
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170882 R H mis40--------
    VAR_0170814
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170812 R C mis40--------
    VAR_0079724
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0079722 I V mis40--------
    VAR_0170934
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170932 R P mis40--------
    VAR_0169324
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0169322 T S mis40--------
    VAR_0170894
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170892 D Y mis40--------
    VAR_0170834
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170832 L V mis40--------
    VAR_0170824
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0170822 D N mis40--------
    VAR_0079774
    Adenylosuccinase deficiency (ADSL deficiency)4--see VAR_0079772 S R mis40--------

    HapMap Linkage Disequilibrium report for ADSL (40742504 - 40786467 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ADSL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834202CNV Loss17160897

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

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

    (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: 608222   
    OMIM disorders: 103050  
    UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
  • Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]: An autosomal recessive disorder characterized
    by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and
    succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or
    autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth
    retardation and muscular wasting are also present. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for ADSL (see all 36):    
    About MalaCards
    adenylosuccinate lyase deficiency    adenylosuccinase deficiency    histidinemia    linitis plastica
    arts syndrome    purine-pyrimidine metabolic disorder    lesch-nyhan syndrome    dihydropyrimidine dehydrogenase deficiency
    rosacea    gout    autistic disorder    phenylketonuria
    homocystinuria    neurologic diseases    hypotonia    endocarditis
    microcephaly    autism spectrum disorder    intellectual disability    labyrinthitis

    5 diseases from the University of Copenhagen DISEASES database for ADSL:
    Rosacea     Atopic dermatitis     Dihydropyrimidine dehydrogenase deficiency     Autistic disorder
    Psoriasis

    ADSL for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ADSL gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    argininosuccinate lyase deficiency 84.1 13 9165520 (4), 7474894 (2), 15471876 (2), 19405474 (1)
    autistic 80.2 15 1302001 (2), 8845770 (1), 11428554 (1), 2111814 (1) (see all 12)
    histidinemia 78.1 2 10360421 (1), 11098885 (1)
    mental retardation 55 8 1302001 (2), 18830228 (2), 10673438 (1), 19405474 (1) (see all 5)
    severe mental retardation 53.6 1 11428554 (1)
    encephalopathy neonatal 52.4 1 17188615 (1)
    epilepsy 50.4 7 9553952 (2), 9266401 (1), 11042421 (1), 18830228 (1) (see all 6)
    lesch-nyhan syndrome 50.2 1 8976090 (1)
    developmental delay 45.7 1 15471876 (1)
    metabolic disorder 43.5 3 10727185 (1), 15902552 (1), 19405474 (1)

    Genatlas disease: ADSL
    mental retardation,severe,with autistic features and succinylpurinemia

    Genetic Association Database (GAD): ADSL
    Human Genome Epidemiology (HuGE) Navigator: ADSL (2 documents)

    Export disorders for ADSL 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 ADSL gene, integrated from 10 sources (see all 151):
    (articles sorted by number of sources associating them with ADSL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PubMed id 8404037)1, 2, 3, 9 Fon E.A.... Rouleau G.A. (Cytogenet. Cell Genet. 1993)
    2. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (PubMed id 10888601)1, 2, 9 Kmoch S....Sebesta I. (Hum. Mol. Genet. 2000)
    3. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (PubMed id 10090474)1, 2, 9 Marie S....van den Berghe G. (Hum. Mutat. 1999)
    4. Expression, purification, and characterization of stable, recombinant human adenylosuccinate lyase. (PubMed id 16973378)1, 2, 9 Lee P. and Colman R.F. (Protein Expr. Purif. 2007)
    5. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PubMed id 12833398)1, 2, 9 Edery P....Tardieu M. (Am. J. Med. Genet. A 2003)
    6. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (PubMed id 10958654)1, 2, 9 Race V.... Van den Berghe G. (Hum. Mol. Genet. 2000)
    7. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. (PubMed id 1302001)1, 2, 9 Stone R.L.... Dixon J.E. (Nat. Genet. 1992)
    8. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (PubMed id 19405474)1, 2, 9 Ariyananda Lde Z.... Colman R.F. (Biochemistry 2009)
    9. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PubMed id 12368987)1, 2, 9 Castro M.... Ugarte M. (Neuropediatrics 2002)
    10. Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. (PubMed id 9545543)1, 2, 9 Verginelli D.... Gross M. (Biochim. Biophys. Acta 1998)

    (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: 158 HGNC: 291 AceView: ADSL Ensembl:ENSG00000239900 euGenes: HUgn158
    ECgene: ADSL Kegg: 158 H-InvDB: ADSL

    (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)
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    NameDescription
    PharmGKB entry for ADSL Pharmacogenomics, SNPs, Pathways
    ADSLdbhttp://www.icp.ucl.ac.be/adsldb/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ADSL[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 ADSL gene:
    Search GeneIP for patents involving ADSL

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



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