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ADSS Gene

protein-coding   GIFtS: 68
GCID: GC01M244571

Adenylosuccinate Synthase

  See ADSS-related disease
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
Adenylosuccinate Synthase1 2     L-Type Adenylosuccinate Synthetase2 3
Adenylosuccinate Synthetase, Acidic Isozyme2 3     EC 6.3.4.43 8
Adenylosuccinate Synthetase, Liver Isozyme2 3     ADEH2
AdSS 22 3     Adenylosuccinate Synthetase (Ade(-)H-Complementing)2
AMPSase 22 3     Adenylosuccinate Synthetase Isozyme 22
IMP--Aspartate Ligase 22 3     ADSS23

External Ids:    HGNC: 2921   Entrez Gene: 1592   Ensembl: ENSG000000356877   OMIM: 1030605   UniProtKB: P305203   

Export aliases for ADSS gene to outside databases

Previous GC identifers: GC01M242457 GC01M239817 GC01M240773 GC01M241518 GC01M240897 GC01M242638 GC01M214954


(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 ADSS Gene:
This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the
conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome
17.(provided by RefSeq, Nov 2010)

GeneCards Summary for ADSS Gene:
ADSS (adenylosuccinate synthase) is a protein-coding gene. Diseases associated with ADSS include relapsing fever. GO annotations related to this gene include phosphate ion binding and GTP binding. An important paralog of this gene is ADSSL1.

UniProtKB/Swiss-Prot: PURA2_HUMAN, P30520
Function: Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide
biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP




(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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADSS gene promoter:
         USF1   Pax-5   NRSF form 1   USF2   CUTL1   NRSF form 2   Roaz   FOXC1   STAT3   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADSS promoter sequence
   Search Chromatin IP Primers for ADSS

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


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

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M244571:  view genomic region     (about GC identifiers)

Start:
244,571,794 bp from pter      End:
244,615,436 bp from pter
Size:
43,643 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PURA2_HUMAN, P30520 (See protein sequence)
Recommended Name: Adenylosuccinate synthetase isozyme 2  
Size: 456 amino acids; 50097 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Subunit: Homodimer (By similarity)
1 PDB 3D structure from and Proteopedia for ADSS:
2V40 (3D)    
Secondary accessions: B1AQM5 Q96EG7

Explore the universe of human proteins at neXtProt for ADSS: NX_P30520

Explore proteomics data for ADSS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys173, Lys403, Lys419, Lys441
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADSS (P30520) (see all 20)
     RRCGWLD  GDEGKGK  QWGDEGK  NAGHTVV 


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

    REFSEQ proteins: NP_001117.2  
    ENSEMBL proteins: 
     ENSP00000355493  
    Reactome Protein details: P30520

    ADSS Human Recombinant Protein Products:

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    Novus Biologicals ADSS Proteins
    Novus Biologicals ADSS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADSS

     
    Search eBioscience for Proteins for ADSS 

     
    antibodies-online proteins for ADSS (11 products) 

     
    antibodies-online peptides for ADSS

    ADSS Antibody Products:

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    antibodies-online antibodies for ADSS (14 products) 

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    Cloud-Clone Corp. ELISAs for ADSS
    Cloud-Clone Corp. CLIAs for ADSS
    Search eBioscience for ELISAs for ADSS 
    antibodies-online kits for ADSS (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR018220 Adenylosuccinate_synthase_AS
     IPR001114 Adenylosuccinate_synthetase
     IPR027417 P-loop_NTPase
     IPR027529 AdSS_2_vert

    Graphical View of Domain Structure for InterPro Entry P30520

    ProtoNet protein and cluster: P30520

    1 Blocks protein domain: IPB001114 Adenylosuccinate synthetase

    UniProtKB/Swiss-Prot: PURA2_HUMAN, P30520
    Similarity: Belongs to the adenylosuccinate synthetase family


    Find genes that share domains with ADSS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PURA2_HUMAN, P30520
    Function: Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide
    biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP
    Catalytic activity: GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP

         Genatlas biochemistry entry for ADSS:
    adenylosuccinate synthase,purine nucleotide cycle

         Enzyme Number (IUBMB): EC 6.3.4.41 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004019adenylosuccinate synthase activity NAS1592113
    GO:0005515protein binding IPI--
    GO:0005525GTP binding NAS15786719
    GO:0042301phosphate ion binding NAS15786719
         
    Find genes that share ontologies with ADSS           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ADSS:
     Cell cycle / mitosis defect  Upregulation of Wnt/beta-caten 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ADSS

    miRNA
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    miRTarBase miRNAs that target ADSS:
    hsa-mir-20a-5p (MIRT050584), hsa-mir-96-5p (MIRT027907), hsa-mir-16-5p (MIRT001480)

    Block miRNA regulation of human, mouse, rat ADSS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADSS (see all 10):
    hsa-miR-548a-3p hsa-miR-217 hsa-miR-659 hsa-miR-19b hsa-miR-1323 hsa-miR-593* hsa-miR-548e hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidADSS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADSS
    Predesigned siRNA for gene silencing in human, mouse, rat ADSS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ADSS (NM_001126)
    Sino Biological Human cDNA Clone for ADSS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADSS

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSS


    (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 UniProtKB/Swiss-Prot
    PURA2_HUMAN, P30520: Cytoplasm. Note=Partially associated with particulate fractions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    mitochondrion3
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with ADSS           About GenesLikeMe


    (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 ADSS About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    4Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    5Nucleotide Metabolism
    Nucleotide Metabolism


    Find genes that share SuperPaths with ADSS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    4 BioSystems Pathways for ADSS
        purine nucleotides de novo biosynthesis
    Nucleotide Metabolism
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 Reactome Pathway for ADSS
        Purine ribonucleoside monophosphate biosynthesis


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

    UniProtKB/Swiss-Prot: PURA2_HUMAN, P30520
    Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2

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

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ADSS

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

    Selected Interacting proteins for ADSS (P305201, 3 ENSP000003554934) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    ATG10Q9H0Y03, ENSP000002821854I2D: score=2 STRING: ENSP00000282185
    DDA1Q9BW613I2D: score=1 
    GBASO753233I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002376immune system process NAS15786719
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006167AMP biosynthetic process NAS15786719
    GO:0006184GTP catabolic process IEA--

    Find genes that share ontologies with ADSS           About GenesLikeMe



    (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 ADSS (PURA2)

    7 HMDB Compounds for ADSS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenylsuccinic acid6-Succino-5'-adenylate (see all 14)19046-78-7--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 DrugBank Compound for ADSS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17139284 2544615 17016423 6703692 1657607

    10 Novoseek inferred chemical compound relationships for ADSS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylosuccinate 98.6 66 9486871 (3), 10218106 (3), 8757283 (3), 8790347 (3) (see all 33)
    hadacidin 90.6 2 1657607 (1)
    l-alanosine 86.6 4 7825060 (2), 16778103 (1)
    prpp 77.6 6 8207962 (1), 16204483 (1), 10597272 (1), 15566465 (1)
    purine 72.9 9 8207962 (1), 2004783 (1), 1807901 (1), 1529104 (1) (see all 8)
    gtp 56.2 4 1939181 (1), 10218106 (1), 9218429 (1)
    aspartate 48.9 4 16981730 (1), 10597272 (1), 1657607 (1), 9218429 (1)
    adenine 41.3 1 2004783 (1)
    adenylate 36.7 2 9486871 (1), 8790347 (1)
    atp 28.8 1 1657607 (1)



    Find genes that share compounds with ADSS           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADSS gene: 
    NM_001126.3  

    Unigene Cluster for ADSS:

    Adenylosuccinate synthase
    Hs.498313  [show with all ESTs]
    Unigene Representative Sequence: NM_001126
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366535(uc001iaj.3 uc009xgr.2) ENST00000468215 ENST00000462358

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADSS (see all 10):
    hsa-miR-548a-3p hsa-miR-217 hsa-miR-659 hsa-miR-19b hsa-miR-1323 hsa-miR-593* hsa-miR-548e hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidADSS 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ADSS

    Additional mRNA sequence: 

    AK025514.1 AK303886.1 AK308749.1 BC012356.1 

    14 DOTS entries:

    DT.418616  DT.100015261  DT.75106335  DT.91749155  DT.95153819  DT.95331535  DT.120912379  DT.121461357 
    DT.121461371  DT.121461372  DT.91749156  DT.95331537  DT.95342256  DT.403819 

    Selected AceView cDNA sequences (see all 221):

    CD105193 AA665826 AA971200 AA662499 CR626347 BQ574089 AI302318 AU133215 
    AA628948 BX645474 NM_001126 AA158988 BX363688 AU131151 AU131472 BM799201 
    AL599492 CA420638 N66269 AA664339 BI905818 AI926930 BM984527 AW945158 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADSS (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16
    SP1:        -                 -           -     -                                         -                       -         
    SP2:        -                             -     -                                                                           
    SP3:        -                 -                                                                                             
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for ADSS

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


    ADSS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Metanephros
     
     Testis (Reproductive System)
    ADSS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADSS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498313
        Pathway & Disease-focused RT2 Profiler PCR Array including ADSS: 
              Amino Acid Metabolism II in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADSS

    (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 ADSS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adss1 , 5 adenylosuccinate synthetase, non muscle1, 5 91.96(n)1
    96.71(a)1
      1 (82.81 cM)5
    115661  NM_007422.31  NP_031448.21 
     1777629625 
    chicken
    (Gallus gallus)
    Aves ADSS1 adenylosuccinate synthase 81.08(n)
    90.24(a)
      428579  NM_001031521.1  NP_001026692.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADSS6
    adenylosuccinate synthase
    89(a)
    1 ↔ 1
    GL343285.1(964065-999851)
    African clawed frog
    (Xenopus laevis)
    Amphibia adss-prov2 adenylosuccinate synthetase 2, non muscle 77.91(n)    BC043896.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adss2 adenylosuccinate synthase 73.57(n)   192305  AY099534.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD327883 purine nucleotide biosynthesis
    adenylosuccinate more
    62(a)   93A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea C37H5.66
    Protein C37H5.6, isoform b (C37H5.6) mRNA, complet...
    48(a)
    1 → many
    V(4818627-4823344) WBGene00016509
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE126
    Adenylosuccinate synthase, catalyzes the first ste...
    53(a)
    1 → many
    XIV(234413-235714) YNL220W
    rice
    (Oryza sativa)
    Liliopsida AK120407.12   -- 76.22(n)    AK120407.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADSS gene
    ADSSL12  
    1 SIMAP similar gene for ADSS using alignment to 2 protein entries:     PURA2_HUMAN (see all proteins):
    ADSSL1

    Find genes that share paralogs with ADSS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ADSS
    PGOHUM00000237034


    (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 ADSS (see all 847)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs791950601,2
    F--244571316(+) TACTGC/TAGCAT 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1447724971,2
    C--244571425(+) ACCTA-/GGAAGA 1 -- ds50010--------
    rs1441172531,2
    --244571537(+) AGAATA/GCAGAC 1 -- ds50010--------
    rs1900827931,2
    --244571711(+) GAACTA/TAGTAT 1 -- ds50010--------
    rs1457385801,2
    --244571721(+) TTACAC/GTACAG 1 -- ds50010--------
    rs1155235081,2
    F--244571814(+) TGGTTC/ATTTTA 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs610847831,2
    C--244571936(+) TTTTT-/TCAAGA 1 -- ut310--------
    rs1835956221,2
    --244572352(+) TTTCAC/GCAGAA 1 -- ut310--------
    rs1886433541,2
    --244572366(+) AGACAC/GCCCAA 1 -- ut310--------
    rs1920487041,2
    --244572545(+) GAACAC/TGCAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ADSS (244571794 - 244615436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ADSS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833115CNV Gain17160897
    nsv516557CNV Gain19592680

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 103060    OMIM disorders: --

    1 disease for ADSS:    
    About MalaCards
    relapsing fever

    2 diseases from the University of Copenhagen DISEASES database for ADSS:
    Herpes simplex     Relapsing fever

    Find genes that share disorders with ADSS           About GenesLikeMe

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

    Export disorders for ADSS 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 ADSS gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with ADSS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. (PubMed id 1592113)1, 2, 3, 9 Powell S.M.... Dixon J.E. (FEBS Lett. 1992)
    2. Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population. (PubMed id 19115993)1, 4, 9 Zhang F....Sham P.C. (BMC Med. Genet. 2008)
    3. An association study of ADSS gene polymorphisms with schizophrenia. (PubMed id 18721483)1, 4, 9 Zhang F....Liu P. (Behav Brain Funct 2008)
    4. A gene correcting the defect in the CHO mutant Ade -H, deficient in a branch point enzyme (adenylosuccinate synthetase) of de novo purine biosynthesis, is located on the long arm of chromosome 1. (PubMed id 2004783)1, 3, 9 Lai L.W....Patterson D. (Genomics 1991)
    5. 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)
    6. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PubMed id 15786719)1, 9 Sun H....Cao X. (Mol. Cell. Biochem. 2005)
    7. Inhibition of adenine nucleotide synthesis: effect on tight junction structure and function of clone 4 MDCK cells. (PubMed id 1657607)7, 9 Ladino C....Lynch R.D. (Eur. J. Cell Biol. 1991)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 159 HGNC: 292 AceView: ADSS Ensembl:ENSG00000035687 euGenes: HUgn159
    ECgene: ADSS Kegg: 159 H-InvDB: ADSS

    (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 ADSS Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for ADSS gene:
    Search GeneIP for patents involving ADSS

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



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