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ADSSL1 Gene

protein-coding   GIFtS: 64
GCID: GC14P105190

Adenylosuccinate Synthase Like 1

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(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 Synthase Like 11 2     M-Type Adenylosuccinate Synthetase2 3
Adenylosuccinate Synthetase, Basic Isozyme2 3     EC 6.3.4.43 8
Adenylosuccinate Synthetase, Muscle Isozyme2 3     Adenylosuccinate Synthetase Isozyme 12
AdSS 12 3     ADSS13
AMPSase 12 3     ADSL15
IMP--Aspartate Ligase 12 3     

External Ids:    HGNC: 200931   Entrez Gene: 1226222   Ensembl: ENSG000001851007   OMIM: 6124985   UniProtKB: Q8N1423   

Export aliases for ADSSL1 gene to outside databases

Previous GC identifers: GC14P099181 GC14P103162 GC14P104261 GC14P085387


(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 ADSSL1 Gene:
ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the
conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 (PubMed
15786719)).(supplied by OMIM, Dec 2008)

GeneCards Summary for ADSSL1 Gene:
ADSSL1 (adenylosuccinate synthase like 1) is a protein-coding gene. GO annotations related to this gene include phosphate ion binding and GTP binding. An important paralog of this gene is ADSS.

UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
Function: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the
nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first
committed step in the biosynthesis of AMP from IMP (By similarity)




(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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADSSL1 gene promoter:
         USF1   p53   USF-1   USF2   USF-1:USF-2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADSSL1 promoter sequence
   Search Chromatin IP Primers for ADSSL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADSSL1


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

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

ADSSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADSSL1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105190:  view genomic region     (about GC identifiers)

Start:
105,190,523 bp from pter      End:
105,213,662 bp from pter
Size:
23,140 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PURA1_HUMAN, Q8N142 (See protein sequence)
Recommended Name: Adenylosuccinate synthetase isozyme 1  
Size: 457 amino acids; 50208 Da
Cofactor: Binds 1 magnesium ion per subunit (By similarity)
Subunit: Homodimer (By similarity)
Sequence caution: Sequence=AAH32039.1; Type=Frameshift; Positions=1; Sequence=CAD62614.1; Type=Erroneous
initiation;
1 PDB 3D structure from and Proteopedia for ADSSL1:
2GJO (3D)    
Secondary accessions: Q86TT6 Q8N714
Alternative splicing: 2 isoforms:  Q8N142-1   Q8N142-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADSSL1: NX_Q8N142

Explore proteomics data for ADSSL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADSSL1 (Q8N142) (see all 20)
     RRCGWLD  GDEGKGK  QWGDEGK  NAGHTVV 


    See ADSSL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_689541.1  NP_954634.1  

    ENSEMBL proteins: 
     ENSP00000331260   ENSP00000473778   ENSP00000333019   ENSP00000450759   ENSP00000452303  
     ENSP00000450433  
    Reactome Protein details: Q8N142

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    (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:
     IPR027509 AdSS_1_vert
     IPR018220 Adenylosuccinate_synthase_AS
     IPR001114 Adenylosuccinate_synthetase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8N142

    ProtoNet protein and cluster: Q8N142

    1 Blocks protein domain: IPB001114 Adenylosuccinate synthetase

    UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
    Similarity: Belongs to the adenylosuccinate synthetase family


    Find genes that share domains with ADSSL1           About GenesLikeMe


    (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, 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: PURA1_HUMAN, Q8N142
    Function: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the
    nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first
    committed step in the biosynthesis of AMP from IMP (By similarity)
    Catalytic activity: GTP + IMP + L-aspartate = GDP + phosphate + N(6)-(1,2-dicarboxyethyl)-AMP

         Enzyme Number (IUBMB): EC 6.3.4.41 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0003924GTPase activity IEA--
    GO:0004019adenylosuccinate synthase activity IDA15786719
    GO:0005515protein binding ----
    GO:0005525GTP binding NAS15786719
         
    Find genes that share ontologies with ADSSL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ADSSL1:
     Increased G1 DNA content 

         1 MGI phenotypic allele for Adssl1 (no phenotypes)

    Find genes that share phenotypes with ADSSL1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADSSL1
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    (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
    PURA1_HUMAN, Q8N142: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15786719
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ADSSL1           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 ADSSL1 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 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
    5Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism


    Find genes that share SuperPaths with ADSSL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ADSSL1
        ATP/ITP metabolism

    3 BioSystems Pathways for ADSSL1
        purine nucleotides de novo biosynthesis
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 Reactome Pathway for ADSSL1
        Purine ribonucleoside monophosphate biosynthesis


    3 Kegg Pathways  (Kegg details for ADSSL1):
        Purine metabolism
    Alanine, aspartate and glutamate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
    Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADSSL1
    Interactions:

        Search GeneGlobe Interaction Network for ADSSL1

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

    Selected Interacting proteins for ADSSL1 (Q8N1422, 3 ENSP000003330194) via UniProtKB, MINT, STRING, and/or I2D (see all 89)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3319198 I2D: score=1 STRING: ENSP00000309503
    ADSLP305663, ENSP000002161944I2D: score=1 STRING: ENSP00000216194
    NAGSQ8N1593, ENSP000002934044I2D: score=1 STRING: ENSP00000293404
    CADP277083, ENSP000002647054I2D: score=1 STRING: ENSP00000264705
    TUFMP494113, ENSP000003224394I2D: score=3 STRING: ENSP00000322439
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002376immune system process NAS15786719
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006163purine nucleotide metabolic process ----
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006167AMP biosynthetic process IDA15786719

    Find genes that share ontologies with ADSSL1           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 ADSSL1 (PURA1)

    7 HMDB Compounds for ADSSL1    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--

    7 DrugBank Compounds for ADSSL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-O-Phosphoryl Inosine Monophosphate-- --target--17139284 17016423 10592235
    Adenylosuccinic AcidAspartyl adenylate (see all 4)19046-78-7target--17139284 17016423 10592235
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423 10592235
    Guanosine-5'-Triphosphate-- 86-01-1target--17139284 17016423 10592235
    Hadacidin-- --target--17139284 17016423 10592235
    Inosinic Acid-- 131-99-7target--17139284 17016423 10592235
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17139284 17016423



    (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 ADSSL1 gene (2 alternative transcripts): 
    NM_152328.3  NM_199165.1  

    Unigene Cluster for ADSSL1:

    Adenylosuccinate synthase like 1
    Hs.592327  [show with all ESTs]
    Unigene Representative Sequence: AK096124
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330877(uc001ypd.3) ENST00000555486 ENST00000332972(uc001ype.3 uc001ypf.3)
    ENST00000553540 ENST00000557582 ENST00000554281 ENST00000553580 ENST00000555884
    ENST00000557271 ENST00000554657 ENST00000556623 ENST00000555674
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    Additional mRNA sequence: 

    AK054648.1 AK095921.1 AK096124.1 AK096720.1 AY037159.1 BC032039.1 BC047904.1 BX248286.1 

    9 DOTS entries:

    DT.442072  DT.109072  DT.92421616  DT.95169110  DT.100676684  DT.100813902  DT.100748131  DT.91848693 
    DT.95143916 

    Selected AceView cDNA sequences (see all 127):

    BQ946027 BU727813 BM807505 H82735 BX384294 AJ346456 CR617087 AA321069 
    BM700714 R24502 CA391340 NM_152328 F18071 AA194467 BQ067498 AJ346565 
    AK095921 AI934786 AK054648 CF552169 CK903690 BC047904 NM_199165 AK096720 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADSSL1    About this scheme

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


    ECgene alternative splicing isoforms for ADSSL1

    (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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    ADSSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGCGTGTC
    ADSSL1 Expression
    About this image


    ADSSL1 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
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    ADSSL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADSSL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592327

    UniProtKB/Swiss-Prot: PURA1_HUMAN, Q8N142
    Tissue specificity: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell
    lines and solid tumors

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ADSSL1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adssl11 , 5 adenylosuccinate synthetase like 11, 5 89.28(n)1
    96.72(a)1
      12 (61.20 cM)5
    115651  NM_007421.21  NP_031447.11 
     1126200475 
    chicken
    (Gallus gallus)
    Aves ADSSL11 adenylosuccinate synthase like 1 79.08(n)
    91.41(a)
      776127  XM_001235679.3  XP_001235680.3 
    lizard
    (Anolis carolinensis)
    Reptilia ADSSL16
    adenylosuccinate synthase like 1
    81(a)
    1 ↔ 1
    1(3648634-3680637)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX715359.12   -- 78.19(n)    BX715359.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adssl11 adenylosuccinate synthase like 1 74.14(n)
    81.61(a)
      407989  NM_214820.1  NP_999985.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172731 CG17273 64.85(n)
    63.74(a)
      42466  NM_142661.3  NP_650918.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C37H5.61 C37H5.6 55.68(n)
    52.2(a)
      178872  NM_171450.1  NP_741529.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE12(YNL220W)4
    ADE121
    Adenylosuccinate synthase, catalyzes the first step more4
    ADE121
    55.69(n)1
    58.06(a)1
      14(234413-235714)4
    8555011, 4  NP_014179.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ADSS1 ADSS 52.12(n)
    50.84(a)
      824930  NM_115621.4  NP_191320.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06993001 Os03g0699300 54.35(n)
    52.47(a)
      4333815  NM_001057522.1  NP_001050987.1 


    ENSEMBL Gene Tree for ADSSL1 (if available)
    TreeFam Gene Tree for ADSSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADSSL1 gene
    ADSS2  
    1 SIMAP similar gene for ADSSL1 using alignment to 5 protein entries:     PURA1_HUMAN (see all proteins):
    ADSS

    Find genes that share paralogs with ADSSL1           About GenesLikeMe



    (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 ADSSL1 (see all 636)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1466597411,2
    --86185226(+) CAGCTA/GAAGGC 1 -- us2k10--------
    rs596079641,2
    C,F--86185256(+) CTGCCC/TCCTGT 1 -- us2k15Minor allele frequency- T:0.21WA CSA NA EA 362
    rs1894573701,2
    --86185348(+) CTGCCA/GAGGAC 1 -- us2k10--------
    rs1390624231,2
    C--86185369(+) CAGCGC/TGCCCT 1 -- us2k10--------
    rs1807521131,2
    --86185370(+) AGCGCA/GCCCTG 1 -- us2k10--------
    rs49833821,2
    C,F,H--105189504(+) CAAGGA/GGCCTC 1 -- us2k1 tfbs321Minor allele frequency- G:0.13NS EA NA WA CSA 2341
    rs1878295871,2
    --105189510(+) GCCTCC/GTGGCT 1 -- us2k10--------
    rs750194101,2
    --105189640(+) CACCAC/GGGCTG 1 -- us2k10--------
    rs1125067101,2
    C,F--105189772(+) GGCTGG/AGCCGG 1 -- us2k12Minor allele frequency- A:0.07CSA WA 120
    rs1905988701,2
    --105189839(+) GGGGGG/TTGCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADSSL1 (105190523 - 105213662 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADSSL1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1437CNV Insertion18451855
    dgv2013n71CNV Loss21882294
    dgv2008n71CNV Loss21882294
    dgv2011n71CNV Loss21882294
    dgv2015n71CNV Loss21882294
    nsv517038CNV Loss19592680
    dgv265n27CNV Loss19166990
    dgv2014n71CNV Loss21882294
    dgv2012n71CNV Loss21882294
    nsv456455CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADSSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADSSL1

    (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: 612498    OMIM disorders: --


    Find genes that share disorders with ADSSL1           About GenesLikeMe

    Genetic Association Database (GAD): ADSSL1
    Human Genome Epidemiology (HuGE) Navigator: ADSSL1 (1 document)

    Export disorders for ADSSL1 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 ADSSL1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with ADSSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells. (PubMed id 15786719)1, 2, 9 Sun H....Cao X. (Mol. Cell. Biochem. 2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    5. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    6. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)
    7. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Recombinant mouse muscle adenylosuccinate synthetase: overexpression, kinetics, and crystal structure. (PubMed id 11560929)1 Iancu C.V....Honzatko R.B. (J. Biol. Chem. 2001)
    10. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (Nucleic Acids Res. 2000)

    (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: 122622 HGNC: 20093 AceView: ADSSL1 Ensembl:ENSG00000185100 euGenes: HUgn122622
    ECgene: ADSSL1 Kegg: 122622 H-InvDB: ADSSL1

    (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 ADSSL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADSSL1 gene:
    Search GeneIP for patents involving ADSSL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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